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
FERMT2	10979	broad.mit.edu	37	14	53360117	53360117	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:53360117G>A	ENST00000395631.2	-	4	636	c.420C>T	c.(418-420)ctC>ctT	p.L140L	FERMT2_ENST00000553373.1_Silent_p.L140L|FERMT2_ENST00000341590.3_Silent_p.L140L|FERMT2_ENST00000343279.4_Silent_p.L140L|FERMT2_ENST00000399304.3_Silent_p.L140L			Q96AC1	FERM2_HUMAN	fermitin family member 2	140					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GTTTCTTTAAGAGAGAAAGTT	0.343000													5	62					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618020	89618020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:89618020C>T	ENST00000294671.2	-	5	694	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	186						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AACTTCAGCTCCAGGGTAAAA	0.478000													17	109					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484784	128484784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128484784G>A	ENST00000325888.8	+	21	3526	c.3265G>A	c.(3265-3267)Ggg>Agg	p.G1089R	FLNC_ENST00000346177.6_Missense_Mutation_p.G1089R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1089					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGACACCAAGGGGGCTGGCAC	0.632000													4	64					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55855409	55855409	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:55855409C>T	ENST00000422046.2	-	5	842	c.561G>A	c.(559-561)ggG>ggA	p.G187G	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Silent_p.G188G|CES1_ENST00000361503.4_Silent_p.G187G			P23141	EST1_HUMAN	carboxylesterase 1	187					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GACCCCAGTTCCCCCGGCTGT	0.597000													6	67					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207737283	207737283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:207737283G>A	ENST00000367049.4	+	22	3661	c.3661G>A	c.(3661-3663)Gaa>Aaa	p.E1221K	CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.E771K|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.E771K|CR1_ENST00000367053.1_Missense_Mutation_p.E771K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	771	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCCGGGCAGGAAGTGTTCTA	0.582000													7	107					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259262	89259262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:89259262C>T	ENST00000336596.2	+	3	631	c.406C>T	c.(406-408)Cga>Tga	p.R136*	EPHA3_ENST00000494014.1_Nonsense_Mutation_p.R136*|EPHA3_ENST00000452448.2_Nonsense_Mutation_p.R136*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	136						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)		GGTGAAATTTCGAGAGCATCA	0.418000										TSP Lung(6;0.00050)			18	186					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276615	152276615	+	Missense_Mutation	SNP	C	C	T	rs144652887		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276615C>T	ENST00000368799.1	-	3	10782	c.10747G>A	c.(10747-10749)Gaa>Aaa	p.E3583K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3583	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.557000									Ichthyosis				35	203					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113448259	113448259	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113448259C>T	ENST00000342315.4	+	11	2344	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	OAS2_ENST00000392583.2_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	710					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCATAGAATCCTGAATAATA	0.403000													19	157					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929824	121929824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:121929824C>T	ENST00000265922.3	-	8	2285	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		608					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AAAATGTTTTCCACCGATTGC	0.557000													28	146					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2151282	2151282	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2151282G>A	ENST00000355272.6	-	1	258	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	AP3D1_ENST00000356926.4_Silent_p.L18L|AP3D1_ENST00000350812.6_Silent_p.L18L|AP3D1_ENST00000345016.5_Silent_p.L18L	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	18					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCCTGCAGATTCTTGTCG	0.701000													12	52					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467209	44467209	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:44467209G>A	ENST00000372310.3	-	9	1218	c.1053C>T	c.(1051-1053)caC>caT	p.H351H	SLC6A9_ENST00000372306.3_Silent_p.H351H|SLC6A9_ENST00000357730.2_Silent_p.H370H|SLC6A9_ENST00000475075.2_Silent_p.H240H|SLC6A9_ENST00000537678.1_Silent_p.H286H|SLC6A9_ENST00000372307.3_Silent_p.H286H|SLC6A9_ENST00000360584.2_Silent_p.H424H	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	424						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCACGCCCAGGTGATTGGCCA	0.607000													28	173					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589736	11589736	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11589736T>G	ENST00000294484.6	+	14	3060	c.2922T>G	c.(2920-2922)agT>agG	p.S974R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S974R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	974					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)		TCGTGCCTAGTGAGAAAGGTA	0.627000													7	47					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32211175	32211175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32211175C>T	ENST00000400246.1	+	21	1785	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	DEPDC5_ENST00000535622.1_Missense_Mutation_p.S548F|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S548F|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S548F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S548F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S548F|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S548F|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S520F|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S548F|DEPDC5_ENST00000400242.3_Missense_Mutation_p.S548F			O75140	DEPD5_HUMAN	DEP domain containing 5	548					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTCAGCAGCTCCTTGGGATAC	0.542000													15	113					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:21036450G>A	ENST00000381545.3	+	13	1815	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.R532R|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B3_ENST00000553473.1_Silent_p.R532R|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000													6	61					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379810	88379810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:88379810G>A	ENST00000298699.2	-	11	1123	c.943C>T	c.(943-945)Caa>Taa	p.Q315*	C12orf50_ENST00000550553.1_Nonsense_Mutation_p.Q276*	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	315										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTTATTTTGGGGTCTTGGG	0.423000													4	65					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656186	12656186	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:12656186G>A	ENST00000425538.1	+	10	1781	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	MYOCD_ENST00000343344.4_Silent_p.V527V|MYOCD_ENST00000395988.1_Silent_p.V431V	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	527					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAGAAGGTGATCAATGAAC	0.517000													7	23					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99669977	99669977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:99669977C>T	ENST00000336292.6	+	5	1529	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.S185L|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.S470L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	471	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCCCGCGAGTCGTACCGGGAT	0.522000													5	31					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891306	11891306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11891306C>T	ENST00000357901.4	+	4	769	c.667C>T	c.(667-669)Cca>Tca	p.P223S	ZNF441_ENST00000454339.2_Missense_Mutation_p.P156S	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAGAGAAACCATATGAATA	0.393000													3	49					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98220343	98220343	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:98220343G>A	ENST00000430669.2	-	18	3507	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	PTCH1_ENST00000437951.1_Silent_p.F974F|PTCH1_ENST00000429896.2_Silent_p.F889F|PTCH1_ENST00000331920.6_Silent_p.F1040F|PTCH1_ENST00000375274.2_Silent_p.F1039F|PTCH1_ENST00000421141.1_Silent_p.F889F|PTCH1_ENST00000418258.1_Silent_p.F889F			Q13635	PTC1_HUMAN	patched 1	1040					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1041fs*104(2)|p.I963fs*2(1)|p.L1040fs*104(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGCACACGAGGAATGTGCAGG	0.552000													14	72					0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49318379	49318379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49318379C>T	ENST00000263278.4	-	6	655	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	HSD17B14_ENST00000599157.1_Missense_Mutation_p.R106Q	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	130			R -> W (in dbSNP:rs35299026).		steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TTGACTCTTCCGCAGGTAGGG	0.582000													13	77					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099328	155099328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:155099328C>T	ENST00000392825.3	+	6	1163	c.596C>T	c.(595-597)tCa>tTa	p.S199L	GALNT13_ENST00000409237.1_Missense_Mutation_p.S199L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	199	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCAGCTGCTTCAAAAGGGCAG	0.423000													4	45					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727707	39727707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39727707C>T	ENST00000246662.4	-	1	603	c.538G>A	c.(538-540)Gac>Aac	p.D180N	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	180	Coil 1A.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TTCTCCAGGTCGTTGTTGGCC	0.468000													10	107					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648148	20648148	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20648148C>T	ENST00000219151.4	-	10	1375	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ACSM1_ENST00000307493.4_Silent_p.K404K|ACSM1_ENST00000520010.1_Silent_p.K404K			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	404					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGATGCTGCCCTTGTCATCAA	0.532000													4	67					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682071	127682071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127682071G>A	ENST00000405109.1	+	5	1999	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	KBTBD12_ENST00000407609.3_Missense_Mutation_p.R118Q|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R511Q|KBTBD12_ENST00000343941.4_Missense_Mutation_p.R86Q			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	511										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGCCAGGTTCGAAAATGCCTT	0.527000													5	22					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461933	5461933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5461933G>A	ENST00000380211.1	-	1	811	c.812C>T	c.(811-813)cCa>cTa	p.P271L	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAACAGGTGGAGCACTTTT	0.478000													7	70					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175435	112175435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:112175435C>T	ENST00000457016.1	+	16	4524	c.4144C>T	c.(4144-4146)Ctc>Ttc	p.L1382F	APC_ENST00000257430.4_Missense_Mutation_p.L1382F|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1382F			P25054	APC_HUMAN	adenomatous polyposis coli	1382	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.L1382fs*4(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)|p.L1382fs*33(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAGACCCCACTCATGTTTAG	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	66					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112452237	112452237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:112452237G>A	ENST00000230538.7	-	29	4298	c.3901C>T	c.(3901-3903)Cag>Tag	p.Q1301*	LAMA4_ENST00000522006.1_Nonsense_Mutation_p.Q1294*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.Q1294*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.Q1294*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1301	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTACTGACTGAACTTTGATT	0.443000													5	59					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874839	39874839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:39874839C>T	ENST00000308559.7	-	10	1290	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*	MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Nonsense_Mutation_p.W402*|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373195.3_Nonsense_Mutation_p.W299*|MOCS1_ENST00000425303.2_Nonsense_Mutation_p.W402*|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	402					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGCGGGTCCCAGGAGAAAAT	0.498000													6	64					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46383995	46383995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:46383995C>T	ENST00000256413.3	+	11	1859	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	CTIF_ENST00000382998.4_Missense_Mutation_p.L524F	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	522	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGATGCTGTCCTTTGCTGCTC	0.547000													14	128					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093864	117093864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:117093864G>A	ENST00000355044.3	+	19	3236	c.3110G>A	c.(3109-3111)gGa>gAa	p.G1037E	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1037	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTCACCACAGGAAAGCAGTGT	0.373000													9	53					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966495	132966495	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:132966495G>A	ENST00000275216.1	-	1	647	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	216						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GTTCTTTAGCGATAAGATATA	0.333000													4	41					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633325	49633325	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49633325G>T	ENST00000334186.4	+	6	1006		c.e6+1		PPFIA3_ENST00000602351.1_Splice_Site	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGATGGGCAGGTGAGACATGG	0.547000													10	75					0.00244969	0.00246144	1	1	0
TMEM168	64418	broad.mit.edu	37	7	112407699	112407699	+	Silent	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:112407699T>G	ENST00000312814.5	-	5	2207	c.1647A>C	c.(1645-1647)tcA>tcC	p.S549S	TMEM168_ENST00000454074.1_Silent_p.S549S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	549						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCCAAGGGGTTGAATTTTCGC	0.413000													9	80					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98392449	98392449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98392449G>A	ENST00000186436.5	-	32	4405	c.4177C>T	c.(4177-4179)Cca>Tca	p.P1393S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1393	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTCTTAGGTGGTTTCACCTTG	0.418000													6	47					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153556	37153556	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:37153556T>C	ENST00000262879.6	+	11	2039	c.1755T>C	c.(1753-1755)ttT>ttC	p.F585F	RALGAPB_ENST00000397042.3_Silent_p.F585F|RALGAPB_ENST00000397040.1_Silent_p.F585F|RALGAPB_ENST00000397038.1_Silent_p.F363F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	585					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCCTTACTTTATTTCAGCTC	0.433000													15	146					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78925574	78925574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:78925574G>A	ENST00000545128.1	+	29	4148	c.3610G>A	c.(3610-3612)Gca>Aca	p.A1204T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	859					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATTTCTAGGTGCATATCTTCT	0.498000													4	35					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926503	83926503	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:83926503C>T	ENST00000345382.2	-	5	2761	c.2676G>A	c.(2674-2676)ggG>ggA	p.G892G	BNC1_ENST00000569704.1_Silent_p.G885G|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	892					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTTCACAGTTCCCATCACTGT	0.562000													6	113					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450225	46450225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46450225C>T	ENST00000399036.3	+	2	1007	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	ACKR5_ENST00000400880.3_Missense_Mutation_p.L219F|ACKR5_ENST00000357392.4_Missense_Mutation_p.L231F|ACKR5_ENST00000400882.2_Missense_Mutation_p.L219F	NM_003965.4	NP_003956.2																					TTTTACATTTCTCTATGTGCA	0.403000													20	139					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70775855	70775855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:70775855C>T	ENST00000373719.3	+	8	1193	c.976C>T	c.(976-978)Cat>Tat	p.H326Y	OGT_ENST00000373701.3_Missense_Mutation_p.H316Y	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	326					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTGTCCCACCCATGCAGACTC	0.408000													17	90					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745843	77745843	+	Silent	SNP	G	G	A	rs34870411		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:77745843G>A	ENST00000409088.3	-	3	1566	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	LRRTM4_ENST00000409911.1_Silent_p.I385I|LRRTM4_ENST00000409884.1_Silent_p.I384I|LRRTM4_ENST00000409093.1_Silent_p.I384I|LRRTM4_ENST00000409282.1_Silent_p.I385I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	384						integral to membrane		p.I384I(2)		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)		TAGGTCTAGGGATAATCAGAG	0.488000													4	18					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913419	6913419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6913419G>A	ENST00000299459.2	-	1	411	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAAAAATGAGGAAAAAGAGA	0.473000													4	58					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78131015	78131015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:78131015C>T	ENST00000354212.4	-	5	1097	c.844G>A	c.(844-846)Gag>Aag	p.E282K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E282K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E114K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E282K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E119K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	282	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCTTCAGCTCCTCAGGCTGA	0.488000													5	84					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130368455	130368455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:130368455C>T	ENST00000456951.1	-	4	930	c.79G>A	c.(79-81)Gga>Aga	p.G27R	TSGA13_ENST00000356588.3_Missense_Mutation_p.G27R			Q96PP4	TSG13_HUMAN	testis specific, 13	27										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					ACAACCATTCCTTTCTCACGT	0.388000													7	77					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649195	51649195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51649195C>T	ENST00000317643.6	+	4	913	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.P189S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	282	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGACAGCAATCCCCCTGCCAG	0.572000													32	181					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735141	54735141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:54735141G>A	ENST00000306858.7	+	2	213	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	33										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTAGCCATTGATATTCTGAT	0.378000													12	114					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636081	7636081	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7636081C>T	ENST00000359156.4	-	12	3172	c.2970G>A	c.(2968-2970)ccG>ccA	p.P990P	CD163_ENST00000432237.2_Silent_p.P990P|CD163_ENST00000396620.3_Silent_p.P1023P|CD163_ENST00000541972.1_Silent_p.P978P|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	990	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.P990P(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGAGCCATATCGGTCCAGTCC	0.522000													6	54					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468631	56468631	+	Silent	SNP	G	G	A	rs141688594	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:56468631G>A	ENST00000288221.6	-	2	660	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	135						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)		ACATGGAGGGGACCTGGTGGT	0.507000													15	146					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143567110	143567110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:143567110G>A	ENST00000316549.6	-	1	263	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	SLC9A9_ENST00000498717.2_5'UTR	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	19					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ACCGCTCCCTGATGTTGAAAC	0.408000													6	68					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185423	154185423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154185423G>A	ENST00000360256.4	-	11	1761	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	521	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCAGAATTGGAAAATCCTTC	0.383000													18	60					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617733	237617733	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:237617733C>T	ENST00000366574.2	+	15	1652	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V	RYR2_ENST00000360064.6_Silent_p.V443V|RYR2_ENST00000542537.1_Silent_p.V429V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	445					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V443V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCCACAGTCGATTTGCCTA	0.423000													3	33					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407898	49407898	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:49407898G>A	ENST00000299191.3	+	1	165	c.48G>A	c.(46-48)agG>agA	p.R16R		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	16										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCACAAAGAGGAAATACATGT	0.532000													4	116					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663482	34663482	+	Missense_Mutation	SNP	C	C	T	rs145927354	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34663482C>T	ENST00000488417.1	+	2	1097	c.977C>T	c.(976-978)gCt>gTt	p.A326V	C1orf94_ENST00000373374.3_Missense_Mutation_p.A136V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	136							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGCCCAAGGCTGACCCTGCT	0.607000													5	56					0	0	1	0	0
PCNP	57092	broad.mit.edu	37	3	101311501	101311501	+	Missense_Mutation	SNP	C	C	T	rs17851951		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:101311501C>T	ENST00000296024.5	+	4	405	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	PCNP_ENST00000469941.1_Silent_p.S24S|PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000265260.3_Silent_p.S147S			Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	0					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GACCAAACTCCTTCAATAAAG	0.333000													4	82					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27296617	27296617	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27296617C>T	ENST00000397501.1	+	24	2521	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	PTK2B_ENST00000346049.5_Silent_p.S571S|PTK2B_ENST00000338238.4_Silent_p.S571S|PTK2B_ENST00000397497.4_Silent_p.S317S|PTK2B_ENST00000544172.1_Silent_p.S571S|PTK2B_ENST00000517339.1_Silent_p.S571S|PTK2B_ENST00000420218.2_Silent_p.S571S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	571	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTGGTCTTTCCCGGTACATTG	0.557000													13	99					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175717716	175717716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:175717716C>T	ENST00000443967.1	+	4	1539	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	SIMC1_ENST00000429602.2_Missense_Mutation_p.P397S|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1																		AAGCTGCTCTCCCAGCCCACA	0.507000													33	307					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704528	52704528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52704528C>T	ENST00000287727.3	+	4	1611	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S480F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.S480F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S480F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	480					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGTTGTGATTCCTATGGAATG	0.363000													8	73					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50606768	50606768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:50606768C>T	ENST00000216373.5	-	17	2951	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K	SOS2_ENST00000543680.1_Missense_Mutation_p.E860K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	893	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTTTTCCTTTCCTGCAGTGCC	0.274000													4	32					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567889	223567889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:223567889C>T	ENST00000366875.3	+	1	1175	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	358										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAGCCCGCGCCAGGAGAAGCT	0.692000													3	14					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397950	125397950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:125397950C>T	ENST00000521654.2	+	4	1429	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	RNF217_ENST00000560949.1_Missense_Mutation_p.R242C|RNF217_ENST00000359704.2_Missense_Mutation_p.R185C|RNF217_ENST00000368414.2_Missense_Mutation_p.R39C|RNF217_ENST00000275184.6_Missense_Mutation_p.R121C			Q8TC41	RN217_HUMAN	ring finger protein 217	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGCAAATATCGCTACCTCCC	0.438000													10	112					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221609	47221609	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:47221609C>T	ENST00000319190.5	+	7	1325	c.957C>T	c.(955-957)ttC>ttT	p.F319F	TTC7A_ENST00000409245.1_Silent_p.F285F|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.F319F|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	319							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGTTCTTTCGCCACTCAGG	0.597000													15	125					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371305	76371305	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76371305G>A	ENST00000407242.2	-	3	1574	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	LRRC32_ENST00000260061.5_Silent_p.S444S|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.S444S|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	444						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGCTGCGGAGGGAGGTGATGC	0.647000													3	15					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4539212	4539212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4539212C>T	ENST00000570836.1	-	9	1099	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ALOX15_ENST00000545513.1_Missense_Mutation_p.D357N|ALOX15_ENST00000293761.3_Missense_Mutation_p.D335N|ALOX15_ENST00000574640.1_Missense_Mutation_p.D296N			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	335	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATTGGGGGATCCGTAGGCAAG	0.607000													12	107					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907981	12907981	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12907981G>A	ENST00000317869.6	-	2	387	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CATATTGAACGAAGGCAAAGC	0.473000													9	187					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16248637	16248637	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:16248637G>A	ENST00000205557.7	-	29	4085	c.4056C>T	c.(4054-4056)ttC>ttT	p.F1352F		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1352	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GAGAGCCAGGGAACAGGATGG	0.672000													3	20					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867060	34867060	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34867060C>T	ENST00000360581.1	+	5	654	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	NPSR1_ENST00000381539.3_Silent_p.L176L|NPSR1_ENST00000359791.1_Silent_p.L176L|NPSR1_ENST00000531252.1_Silent_p.L165L|NPSR1_ENST00000381542.1_Silent_p.L110L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	176						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTGTCTTTTCTGTTCTCCAT	0.532000													6	50					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115229433	115229433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115229433G>A	ENST00000369538.3	-	3	448	c.401C>T	c.(400-402)tCa>tTa	p.S134L	AMPD1_ENST00000520113.2_Missense_Mutation_p.S138L|AMPD1_ENST00000353928.6_Missense_Mutation_p.S105L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	105					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGTTGGAGATGAGGAAATGTA	0.453000													14	94					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:130762527G>A	ENST00000392429.1	+	2	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_ENST00000545622.1_Silent_p.R320R|TMEM200A_ENST00000296978.3_Silent_p.R320R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000													7	52					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740699	62740699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:62740699G>A	ENST00000371153.4	-	3	455	c.77C>T	c.(76-78)tCt>tTt	p.S26F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	26										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTCTCCACAGAATAAGGGTG	0.438000													13	113					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043898	35043898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35043898G>A	ENST00000312292.5	+	2	1319	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	C9orf131_ENST00000421362.2_Nonsense_Mutation_p.W376*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.W351*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	424										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAACCTCTGGGCTTTTGAGT	0.532000													8	70					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141414102	141414102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141414102G>A	ENST00000397541.2	+	2	842	c.436G>A	c.(436-438)Gag>Aag	p.E146K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	146					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCAAGGATGAGATGACCTC	0.458000													6	59					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687621	27687621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27687621C>T	ENST00000438700.3	-	4	2023	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	636					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATGTAGGAATCGTCACTTGCC	0.353000													6	90					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													6	87					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13168489	13168489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:13168489G>A	ENST00000319217.7	-	22	3377	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	MPDZ_ENST00000381022.2_Nonsense_Mutation_p.R1044*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.R1044*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.R1044*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.R1044*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.R1044*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.R1044*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1044	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGGCCATCTCGACTAATGGCA	0.443000													13	144					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75505590	75505590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:75505590C>T	ENST00000502798.2	+	4	1233	c.791C>T	c.(790-792)tCg>tTg	p.S264L	SV2C_ENST00000322285.7_Missense_Mutation_p.S264L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	264					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S264*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACTGTGTTCTCGTACTTTGCT	0.557000													6	100					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986345	53986345	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:53986345T>A	ENST00000514921.1	+	2	277	c.164T>A	c.(163-165)tTc>tAc	p.F55Y	MLIP_ENST00000358276.5_Missense_Mutation_p.F49Y|MLIP_ENST00000274897.5_Missense_Mutation_p.F55Y|MLIP_ENST00000502396.1_Missense_Mutation_p.F66Y|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	55						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACCTCTAAATTCCTTGTTAAA	0.363000													7	96					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167590488	167590488	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:167590488T>C	ENST00000366832.2	+	4	495	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	122										endometrium(1)|kidney(2)|lung(3)	6						CTTTTAGGCATTGGAACCTGC	0.388000													7	158					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68139057	68139057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68139057C>T	ENST00000433211.1	-	12	1759	c.1585G>A	c.(1585-1587)Gat>Aat	p.D529N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D529N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	529					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTATCAGCATCCTGGTCTCTT	0.458000													7	51					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324551	62324551	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:62324551C>T	ENST00000318100.4	+	30	3734	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I969I|RTEL1_ENST00000370003.1_Silent_p.I214I|RTEL1_ENST00000370018.3_Silent_p.I969I|RTEL1_ENST00000508582.2_Silent_p.I993I|RTEL1_ENST00000360203.5_Silent_p.I969I			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	969					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGTCTGTATCCAGCTGACAG	0.602000													22	185					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284000													6	49					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111851963	111851963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111851963C>T	ENST00000308910.4	-	1	189	c.5G>A	c.(4-6)gGa>gAa	p.G2E	GCSAM_ENST00000484193.1_Missense_Mutation_p.G2E	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		CAGAGAATTTCCCATCCTCTC	0.502000													12	131					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691306	39691306	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39691306C>T	ENST00000339852.4	+	6	760	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	246	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TTATCCACTTCCTGCACAAGG	0.627000													42	393					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883216	66883216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:66883216G>A	ENST00000269080.2	-	24	3388	c.3251C>T	c.(3250-3252)tCc>tTc	p.S1084F	ABCA8_ENST00000586539.1_Missense_Mutation_p.S1124F|ABCA8_ENST00000430352.2_Missense_Mutation_p.S1124F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1084						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGATGAAGGAAATCACGTA	0.333000													5	75					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810344	123810344	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:123810344C>T	ENST00000307033.2	+	1	95	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAAATCATTCCCAGGTGGCAG	0.418000													14	90					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882788	228882788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228882788C>T	ENST00000392056.3	-	7	2828	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D928N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	928						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)		TCCGCAAAGTCTGTAATGCAG	0.478000													6	132					0	0	1	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058325	152058325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:152058325C>T	ENST00000408960.3	-	1	454	c.369G>A	c.(367-369)atG>atA	p.M123I	MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000463374.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	123						integral to membrane				lung(1)	1						TTTAATTCTTCATGAGTCCAA	0.343000													5	83					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3686406	3686406	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:3686406C>T	ENST00000294600.2	+	11	1887	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	601										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGACCAAGTCCTTGGCCAACG	0.547000													11	156					0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24123214	24123214	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24123214C>T	ENST00000374497.3	-	9	859	c.768G>A	c.(766-768)agG>agA	p.R256R		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	256					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTTTCAGCTTCCTTAAGGCTG	0.592000													5	38					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23371420	23371420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23371420G>A	ENST00000359890.3	-	11	1297	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	RBM23_ENST00000542016.2_Nonsense_Mutation_p.Q198*|RBM23_ENST00000555209.1_Nonsense_Mutation_p.Q118*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.Q334*|RBM23_ENST00000399922.2_Nonsense_Mutation_p.Q352*	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	368					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCCATGAGCTGAAAACGTCCA	0.498000													6	104					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231359	6231359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6231359G>A	ENST00000316375.2	+	2	402	c.352G>A	c.(352-354)Gga>Aga	p.G118R		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	118										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTTGGATGGACAGCCCTG	0.582000													8	116					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176916	8176916	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8176916C>T	ENST00000600128.1	-	31	4320	c.3906G>A	c.(3904-3906)ggG>ggA	p.G1302G	FBN3_ENST00000601739.1_Silent_p.G1302G|FBN3_ENST00000270509.2_Silent_p.G1302G			Q75N90	FBN3_HUMAN	fibrillin 3	1302	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGAAACTCCCCGGGATGT	0.592000													6	194					0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17117965	17117965	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:17117965C>T	ENST00000426585.1	+	0	265																											TCAATTATATCATCCTTTGCA	0.343000													4	36					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727789	35727789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35727789G>A	ENST00000440995.2	+	21	2912	c.2912G>A	c.(2911-2913)gGa>gAa	p.G971E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G976E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	976					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCTAAAGGAAAATCATCA	0.383000													4	64					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127821182	127821182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:127821182C>T	ENST00000316724.5	-	9	1150	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	BIN1_ENST00000393041.3_Missense_Mutation_p.G216S|BIN1_ENST00000259238.4_Missense_Mutation_p.G216S|BIN1_ENST00000357970.3_Missense_Mutation_p.G247S|BIN1_ENST00000351659.3_Missense_Mutation_p.G247S|BIN1_ENST00000346226.3_Missense_Mutation_p.G216S|BIN1_ENST00000393040.3_Missense_Mutation_p.G216S|BIN1_ENST00000409400.1_Missense_Mutation_p.G216S|BIN1_ENST00000352848.3_Missense_Mutation_p.G216S|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Missense_Mutation_p.G216S|BIN1_ENST00000376113.2_Missense_Mutation_p.G216S	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	247	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTCCAGGCCCGCGATGCTC	0.612000													4	35					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824896	162824896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:162824896C>T	ENST00000367912.1	-	4	739	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	C1orf110_ENST00000367911.2_Missense_Mutation_p.E185K|C1orf110_ENST00000367910.1_Missense_Mutation_p.E190K|C1orf110_ENST00000524691.1_Intron			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	190										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGACCTTGTTCTATGGTGTTG	0.478000													8	141					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911713	23911713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:23911713G>A	ENST00000382298.3	-	10	6890	c.6302C>T	c.(6301-6303)tCc>tTc	p.S2101F	SACS_ENST00000402364.1_Missense_Mutation_p.S1351F|SACS_ENST00000382292.3_Missense_Mutation_p.S2101F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2101					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCCTCCAAGGAACAAGGAAT	0.398000													3	41					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125276	6125276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6125276C>T	ENST00000261405.5	-	31	5688	c.5434G>A	c.(5434-5436)Gct>Act	p.A1812T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1812	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCGGCATCAGCTGCTGCATCC	0.527000													4	55					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186394974	186394974	+	Missense_Mutation	SNP	G	G	A	rs140336956	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:186394974G>A	ENST00000232003.4	+	7	960	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	294	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.E294K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAAGCCACACGAACATGGACC	0.547000													4	74					0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576594	115576594	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115576594G>A	ENST00000256592.1	+	3	231	c.162_splice	c.e3-1	p.D55_splice	TSHB_ENST00000369517.1_Splice_Site_p.D55_splice	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	55					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTTTCCCCAGGATATCAATGG	0.368000													17	165					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50902647	50902647	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50902647G>A	ENST00000374111.3	+	3	293	c.281G>A	c.(280-282)tGa>tAa	p.*94*	C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				AATGCCTACTGATCTCCTCAT	0.512000													8	75					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70573452	70573452	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:70573452G>A	ENST00000310961.5	+	26	4741	c.4323G>A	c.(4321-4323)agG>agA	p.R1441R	LRRC7_ENST00000415775.2_Silent_p.R767R|LRRC7_ENST00000035383.5_Silent_p.R1483R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1483						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGTTACTAGGGTTCAGCCTG	0.408000													7	100					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529220	57529220	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:57529220C>T	ENST00000420713.1	+	4	1165	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGGAGAAACTCTACACATGTG	0.398000													3	25					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40107251	40107251	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40107251C>T	ENST00000591658.1	+	0	1230							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGAGAGACTTCGAGTCAGCCG	0.542000													4	25					0	0	1	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193258	90193258	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:90193258C>T	ENST00000390275.2	+	0	365																											CAGCAGAAACCAGGGAAAGCT	0.527000													7	207					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39222561	39222561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39222561C>T	ENST00000333039.2	-	3	1165	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	348	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTACAATCTCGTTGGCCTGC	0.672000													12	157					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739297	72739297	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72739297C>T	ENST00000340415.3	+	4	1264	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RAB37_ENST00000392610.1_Silent_p.F92F|RAB37_ENST00000528438.1_Silent_p.F65F|RAB37_ENST00000392613.5_Silent_p.F92F|RAB37_ENST00000392614.4_Silent_p.F97F|RAB37_ENST00000392615.5_Silent_p.F60F|RAB37_ENST00000402449.4_Silent_p.F85F|RAB37_ENST00000392612.3_Silent_p.F55F	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	92					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGGAACGGTTCCGAAGCGTCA	0.602000													19	216					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125617604	125617604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125617604G>A	ENST00000373670.1	-	14	3274	c.2674C>T	c.(2674-2676)Cca>Tca	p.P892S	RC3H2_ENST00000423239.2_Missense_Mutation_p.P892S|RC3H2_ENST00000357244.2_Missense_Mutation_p.P892S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	892						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGAATTATTGGATCTTCTTCT	0.413000													11	72					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111274599	111274599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:111274599C>T	ENST00000309957.2	+	2	151	c.137C>T	c.(136-138)tCg>tTg	p.S46L	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron|CARKD_ENST00000397191.4_Missense_Mutation_p.S28L	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	46										NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AAAGCACATTCGATAAAGGAT	0.363000													6	29					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538775	9538775	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:9538775G>A	ENST00000352665.5	+	11	1443	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Silent_p.K468K|WDR16_ENST00000396219.3_Silent_p.K390K	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	458						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.K458K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGCCCTGAAGGAACACAAGT	0.532000													8	82					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728998	15728998	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15728998G>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAGAACATTGGAGGGCTTCT	0.527000													13	91					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810754	123810754	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:123810754T>C	ENST00000307033.2	+	1	505	c.431T>C	c.(430-432)cTt>cCt	p.L144P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGTGCACTCCTTATGGCAGCC	0.517000													5	75					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161216977	161216977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:161216977G>A	ENST00000327928.4	+	2	383	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	128	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGAGAGGCTGGAAATTTGGGG	0.393000													3	10					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112510	44112510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:44112510C>T	ENST00000361807.3	+	5	1213	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZNF485_ENST00000374437.2_Missense_Mutation_p.S249F|ZNF485_ENST00000374435.3_Missense_Mutation_p.S340F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TATAGCTCATCCTTTGCTGGT	0.428000													12	127					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702165	23702165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23702165G>A	ENST00000256797.4	-	22	3080	c.2912C>T	c.(2911-2913)gCc>gTc	p.A971V	ERN2_ENST00000457008.2_Missense_Mutation_p.A871V	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	923					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTCCCTGTGGCCCCAGGGCA	0.647000													3	27					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95076677	95076677	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:95076677T>A	ENST00000545558.1	-	7	2722	c.2230A>T	c.(2230-2232)Aat>Tat	p.N744Y	NOL8_ENST00000535387.1_Missense_Mutation_p.N744Y|NOL8_ENST00000442668.2_Missense_Mutation_p.N744Y|NOL8_ENST00000358855.4_Missense_Mutation_p.N676Y|NOL8_ENST00000542053.1_Missense_Mutation_p.N676Y			Q76FK4	NOL8_HUMAN	nucleolar protein 8	744					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTGACGAATTACTAATAGAA	0.438000													3	32					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128694744	128694744	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128694744C>T	ENST00000393245.1	-	1	454	c.81G>A	c.(79-81)aaG>aaA	p.K27K	TNPO3_ENST00000471166.1_Silent_p.K27K|TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471234.1_Silent_p.K27K|TNPO3_ENST00000265388.5_Silent_p.K27K	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	27					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGGCGCGCTCCTTTCCGCTGG	0.652000													5	30					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768962	57768962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57768962G>A	ENST00000371030.2	+	1	2888	c.2888G>A	c.(2887-2889)aGc>aAc	p.S963N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	963						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAAGGCACAGCCAGGACTCT	0.607000													18	207					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416162	178416162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:178416162C>T	ENST00000408939.2	-	1	1580	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	444					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AAGATCTTTTCCACCATTGGA	0.383000													9	569					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261862	160261862	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160261862G>A	ENST00000241704.7	-	29	3316	c.3087C>T	c.(3085-3087)ttC>ttT	p.F1029F	COPA_ENST00000368069.3_Silent_p.F1038F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1029					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGGAACGGAATTTTTCCA	0.512000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	208					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236168	21236168	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21236168C>T	ENST00000233242.1	-	25	4207	c.4080G>A	c.(4078-4080)acG>acA	p.T1360T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1360					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTAGACATTCGTGGAGAGGT	0.512000													9	183					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076964	41076964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:41076964C>T	ENST00000373198.3	-	9	1691	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	PTPRT_ENST00000356100.2_Missense_Mutation_p.G486R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G486R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G486R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G486R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G486R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G486R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	486	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAACAGCTCCTGGAACTACA	0.483000													7	49					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010315	24010315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:24010315G>A	ENST00000496398.1	+	4	775	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RPSAP58_ENST00000354585.4_Missense_Mutation_p.E118K|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA														p.E118K(2)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						AGCCTTCTGGGAGCCACGGCT	0.562000													5	68					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36556777	36556777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36556777C>T	ENST00000349314.2	-	1	200	c.163G>A	c.(163-165)Gga>Aga	p.G55R	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	55					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGTGTGGATCCCACCTCCAGC	0.512000													10	131					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476056	80476056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:80476056C>T	ENST00000265080.4	+	18	2816	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	917					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGCTACCAATCGAGTTCTGAA	0.398000													15	132					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238007	69238007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:69238007G>A	ENST00000310673.3	+	2	288	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	45					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AACCTAGTACGAAGTGTTCCC	0.353000													5	90					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63018492	63018492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:63018492G>A	ENST00000251157.5	-	22	2710	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	DOCK7_ENST00000340370.5_Missense_Mutation_p.R893C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	893					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTCGAGAACGATTTAAATTA	0.443000													9	64					0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284743	47284743	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:47284743C>T	ENST00000511277.1	-	3	221	c.42G>A	c.(40-42)gaG>gaA	p.E14E	GNGT2_ENST00000515635.1_Silent_p.E14E|GNGT2_ENST00000503070.1_Silent_p.E14E|GNGT2_ENST00000511673.1_Silent_p.E14E|GNGT2_ENST00000300406.2_Silent_p.E14E|GNGT2_ENST00000507680.1_Silent_p.E14E	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	14					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GCTGCTCCACCTCCATCTTCA	0.537000													21	260					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16720940	16720940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:16720940G>A	ENST00000443824.1	-	2	829	c.86C>T	c.(85-87)tCa>tTa	p.S29L	CTPS2_ENST00000380241.3_Missense_Mutation_p.S29L|CTPS2_ENST00000359276.4_Missense_Mutation_p.S29L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	29					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAGTCCACATGATTTTAGAAT	0.458000													21	77					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350306	100350306	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100350306C>T	ENST00000542585.1	+	0	2726				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCACAGAAAA	0.488000													6	131					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149363	34149363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:34149363G>A	ENST00000346193.3	-	1	1084	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	345										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACCCCCGACGAGTCTTGGAA	0.667000													4	23					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55168407	55168407	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55168407T>C	ENST00000414150.2	+	21	3831	c.3553T>C	c.(3553-3555)Tgc>Cgc	p.C1185R	MROH7_ENST00000421030.2_Missense_Mutation_p.C1185R|MROH7_ENST00000409996.1_Missense_Mutation_p.C753R|MROH7_ENST00000454855.2_Missense_Mutation_p.C703R					maestro heat-like repeat family member 7																		GGCCAAAATTTGCAAGTGCCT	0.502000													17	105					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087876	86087876	+	Silent	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:86087876A>C	ENST00000330753.4	+	2	785	c.18A>C	c.(16-18)acA>acC	p.T6T	FLRT2_ENST00000554746.1_Silent_p.T6T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	6					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TACAGACCACAAAGTGGCCCA	0.433000													12	51					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78931467	78931467	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:78931467C>T	ENST00000306801.3	+	29	3776	c.3414C>T	c.(3412-3414)ctC>ctT	p.L1138L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.L980L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1138					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGGCCTCCTCATGAGCTCAG	0.627000													20	154					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629015	47629015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47629015G>A	ENST00000546455.1	+	4	900	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E57K					PC-esterase domain containing 1B																		GCTGAACTTCGAACAAGATGA	0.607000													6	46					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30926546	30926546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:30926546G>A	ENST00000597505.1	-	29	4269	c.4270C>T	c.(4270-4272)Cgt>Tgt	p.R1424C	DCDC1_ENST00000339794.5_Missense_Mutation_p.R503C|DCDC1_ENST00000406071.2_Missense_Mutation_p.R159C			P59894	DCDC1_HUMAN	doublecortin domain containing 1	186					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCCCATTACGATACCCATCC	0.458000													8	69					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41006556	41006556	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41006556G>A	ENST00000308423.2	+	2	1852	c.1692G>A	c.(1690-1692)gtG>gtA	p.V564V	AOC3_ENST00000591562.1_Silent_p.V21V	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	564					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGCTGCAGGTGACCCGGAAGC	0.642000													6	62					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45618069	45618069	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:45618069A>G	ENST00000267430.5	+	4	874	c.789A>G	c.(787-789)ctA>ctG	p.L263L	FANCM_ENST00000556036.1_Silent_p.L263L|FANCM_ENST00000542564.2_Silent_p.L237L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	263	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTAACCTGCTAATTGGGCAGA	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	57					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81213265	81213265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81213265G>A	ENST00000599697.1	-	13	2244	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	749	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTCTGATTCGGATGACCTCT	0.498000													7	102					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123779751	123779751	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:123779751G>A	ENST00000223642.1	-	14	1784	c.1755C>T	c.(1753-1755)ggC>ggT	p.G585G		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	585					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACACAGTTTGGCCTGGAGAAT	0.418000													8	44					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15175054	15175054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:15175054C>T	ENST00000355694.2	-	19	1957	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	TTC39B_ENST00000297615.5_Missense_Mutation_p.E572K|TTC39B_ENST00000512701.1_Missense_Mutation_p.E641K|TTC39B_ENST00000507285.1_Missense_Mutation_p.E476K|TTC39B_ENST00000380850.4_Missense_Mutation_p.E628K|TTC39B_ENST00000507993.1_Missense_Mutation_p.E476K	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	575							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTGTCAATTTCCCCCTGGCTT	0.408000													5	84					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101833451	101833451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:101833451G>A	ENST00000376196.3	-	15	2161	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	NALCN_ENST00000251127.6_Intron|NALCN_ENST00000470333.1_5'UTR			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	0						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTACTTATCGAAGATTGTGA	0.473000													13	192					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105139435	105139435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:105139435C>T	ENST00000428173.2	+	7	802	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	NRK_ENST00000243300.9_Missense_Mutation_p.H167Y			Q7Z2Y5	NRK_HUMAN	Nik related kinase	167	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGGCTTAGCTCACCTTCACGC	0.353000										HNSCC(51;0.14)			3	26					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295971	29295971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29295971G>A	ENST00000331664.5	-	1	1156	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	386					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCTGTGTGGGGTGAAGTCAC	0.597000													5	72					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171795	67171795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67171795G>A	ENST00000312390.5	+	2	151	c.122G>A	c.(121-123)gGa>gAa	p.G41E	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.G41E|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.G41E	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	41						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCGCTATGGATTCATTGGG	0.652000													4	59					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791161	49791161	+	Missense_Mutation	SNP	C	C	G	rs137922552		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:49791161C>G	ENST00000249601.4	-	2	367	c.71G>C	c.(70-72)cGg>cCg	p.R24P	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R30P|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R24P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	24					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCAGGGCTCCGGCTCTGCTC	0.637000													24	244					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536740	4536740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4536740C>T	ENST00000570836.1	-	10	1313	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E	ALOX15_ENST00000545513.1_Missense_Mutation_p.G428E|ALOX15_ENST00000293761.3_Missense_Mutation_p.G406E|ALOX15_ENST00000574640.1_Missense_Mutation_p.G367E			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	406	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGAGACCAGCCCAGTCCTGGC	0.527000													15	177					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554580	140554580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140554580C>T	ENST00000231137.3	+	1	2338	c.2164C>T	c.(2164-2166)Cgc>Tgc	p.R722C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		722					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGTGGGTCGCTGCTCGGT	0.667000													13	608					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124978440	124978440	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124978440G>A	ENST00000522917.1	+	5	500	c.294G>A	c.(292-294)gaG>gaA	p.E98E	FER1L6_ENST00000399018.1_Silent_p.E98E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	98	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGTGGGTGAGAACATTGACC	0.498000													4	27					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48764954	48764954	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48764954C>T	ENST00000285238.8	+	30	4418	c.4338C>T	c.(4336-4338)atC>atT	p.I1446I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1446	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGAGCCGCATCCTGGTTTTAG	0.627000													15	84					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807513	66807513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66807513G>A	ENST00000393946.2	+	7	1622	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	SYT12_ENST00000525457.1_Missense_Mutation_p.G154S|SYT12_ENST00000527043.1_Missense_Mutation_p.G154S|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	154						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTTCACACTGGGCCAGGTGGA	0.642000													9	102					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60903661	60903661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:60903661G>A	ENST00000321731.3	-	18	1825	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	556										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AATGAAAATGGAAAACTAAAA	0.338000													17	145					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945401	55945401	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55945401C>T	ENST00000394256.2	+	1	419	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTGCATTACCTGACTATTAT	0.453000													6	125					0	0	1	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199217	107199217	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:107199217C>T	ENST00000433072.2	-	0	151																											CCCCAGACTCCACCAGCTGCA	0.572000													20	247					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876135	10876135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:10876135G>A	ENST00000379491.4	-	4	718	c.571C>T	c.(571-573)Cga>Tga	p.R191*	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	191					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCGGATTCTCGAATTCTCTTT	0.448000													8	78					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600332	54600332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54600332G>A	ENST00000284648.6	-	4	387	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	OSCAR_ENST00000351806.4_Missense_Mutation_p.L53F|OSCAR_ENST00000359649.4_Missense_Mutation_p.L68F|OSCAR_ENST00000391761.1_Missense_Mutation_p.L53F|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000358375.4_Missense_Mutation_p.L64F|OSCAR_ENST00000356532.3_Missense_Mutation_p.L68F			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	64	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGCTTGAAAAGTCCAAATCTC	0.592000													12	138					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239257	100239257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100239257C>T	ENST00000305046.8	-	3	272	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_Missense_Mutation_p.E29K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	69					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCGGCTGCCTCATGGCCTAAA	0.522000													11	197					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137041714	137041714	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:137041714C>T	ENST00000359015.4	-	2	822	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	154					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CGCTCATCTCCACCACCGCAA	0.443000													8	36					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91660864	91660864	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:91660864C>T	ENST00000359028.2	+	17	4545	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I	AKAP9_ENST00000356239.3_Silent_p.I1428I|AKAP9_ENST00000358100.2_Silent_p.I1440I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1440					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAACAAATATCGTTAAGTTGC	0.289000			T	BRAF	papillary thyroid								5	84					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168907	44168907	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:44168907C>T	ENST00000262726.7	-	4	469	c.216G>A	c.(214-216)ggG>ggA	p.G72G	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000356087.4_Intron|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	72	EF-hand 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCAACTCATCCCCTCTGTCGG	0.408000													4	117					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552346	75552346	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:75552346A>G	ENST00000603114.1	+	11	2206		c.e11-1		ZSWIM8_ENST00000398706.2_Silent_p.T683T|ZSWIM8_ENST00000605216.1_Silent_p.T683T|ZSWIM8_ENST00000604524.1_Silent_p.T683T|ZSWIM8_ENST00000604729.1_Silent_p.T683T|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242488.1	NP_001229417.1			zinc finger, SWIM-type containing 8																		AGCCTCCCACAGCCTCTGTTG	0.582000													4	62					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877696	2877696	+	Missense_Mutation	SNP	G	G	A	rs146297141		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2877696G>A	ENST00000586426.1	+	4	824	c.737G>A	c.(736-738)cGc>cAc	p.R246H	ZNF556_ENST00000307635.2_Missense_Mutation_p.R247H			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R247H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATCCTTTCGCGCACATGTG	0.512000													8	59					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826983	96826983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96826983C>T	ENST00000371270.3	-	3	557	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CYP2C8_ENST00000535898.1_Missense_Mutation_p.E53K|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E69K	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	155					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTCTCAACTCCTCCACAAGG	0.512000													9	148					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44877836	44877836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:44877836C>T	ENST00000355387.2	+	2	517	c.67C>T	c.(67-69)Cca>Tca	p.P23S	RNF220_ENST00000372247.2_Missense_Mutation_p.P23S|RNF220_ENST00000361799.2_Missense_Mutation_p.P23S			Q5VTB9	RN220_HUMAN	ring finger protein 220	23					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TCTGGCATCCCCAGCACTGAT	0.572000													3	86					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90167455	90167455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90167455C>T	ENST00000268138.7	+	20	4019	c.3914C>T	c.(3913-3915)cCt>cTt	p.P1305L	TICRR_ENST00000560985.1_Missense_Mutation_p.P1304L|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		TCTTCCCCACCTGTTACGCCA	0.448000													15	196					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124329689	124329689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124329689C>T	ENST00000338354.3	+	3	209	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	DMBT1_ENST00000368955.3_Missense_Mutation_p.P35S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P35S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P35S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P35S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P35S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P35S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	35					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTCACTGATTCCCTCGGAGGT	0.547000													15	148					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36026303	36026303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:36026303G>A	ENST00000400445.3	+	40	6913	c.6379G>A	c.(6379-6381)Gaa>Aaa	p.E2127K	NBEA_ENST00000379939.2_Missense_Mutation_p.E2124K|NBEA_ENST00000310336.4_Missense_Mutation_p.E2127K|NBEA_ENST00000540320.1_Missense_Mutation_p.E2127K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2127						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCAGAGACAGAACTTATGCT	0.343000													3	16					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111503492	111503492	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:111503492G>A	ENST00000428084.1	-	23	2681	c.2409C>T	c.(2407-2409)tcC>tcT	p.S803S	DOCK4_ENST00000437633.1_Silent_p.S803S|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	803					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGCCTGCAGGGAATCATCCA	0.522000													3	65					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37336780	37336780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:37336780C>T	ENST00000373479.4	+	3	954	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RNF8_ENST00000469731.1_Missense_Mutation_p.S254F|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	254					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GTGACCATGTCCAGGATTCTG	0.438000													8	59					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088404	57088404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57088404C>T	ENST00000330619.8	+	6	1293	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	ZNF470_ENST00000391709.3_Missense_Mutation_p.H203Y|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H203Y(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATTTAATTTTCATACAGATAA	0.289000													6	32					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113831782	113831782	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113831782C>T	ENST00000257549.4	-	7	815	c.693G>A	c.(691-693)caG>caA	p.Q231Q		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	231					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTTCAGGGCCTGAGCCCCCA	0.582000													8	78					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4810403	4810403	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:4810403C>T	ENST00000302640.8	+	45	6239	c.5889C>T	c.(5887-5889)ctC>ctT	p.L1963L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.L1963L|ITPR1_ENST00000456211.2_Silent_p.L1915L|ITPR1_ENST00000443694.2_Silent_p.L1963L|ITPR1_ENST00000423119.2_Silent_p.L1930L|ITPR1_ENST00000357086.4_Silent_p.L1930L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1978					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)		AGCCCATCCTCCGCTTCCTTC	0.642000													18	115					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37681010	37681010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37681010C>T	ENST00000447079.4	+	12	3212	c.3179C>T	c.(3178-3180)cCa>cTa	p.P1060L	CDK12_ENST00000430627.2_Missense_Mutation_p.P1060L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1060					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTCGAAGAGCCACCTCCATCC	0.532000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			11	116					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390417	8390417	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:8390417C>T	ENST00000471889.1	+	5	1249	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC45A1_ENST00000377479.2_Silent_p.I322I|SLC45A1_ENST00000289877.8_Silent_p.I288I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	288					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCAGCATCCCTGAGAGGC	0.687000													20	65					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57094720	57094720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:57094720G>A	ENST00000376149.3	-	20	2766	c.1957C>T	c.(1957-1959)Cga>Tga	p.R653*	TRIM37_ENST00000393065.2_Nonsense_Mutation_p.R741*|TRIM37_ENST00000262294.7_Nonsense_Mutation_p.R775*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.R775*			O94972	TRI37_HUMAN	tripartite motif containing 37	775						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTGCTCTTCGAAGTGATAGA	0.448000									Mulibrey Nanism				11	122					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800820	185800820	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:185800820T>A	ENST00000302277.6	+	4	1291	c.697T>A	c.(697-699)Ttc>Atc	p.F233I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	233						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCTGCAGCCTTCTCTGAATA	0.453000													5	76					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472088	71472088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71472088C>T	ENST00000322937.6	+	13	1088	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S	AMBN_ENST00000449493.2_Missense_Mutation_p.P314S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	329					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CTCCCCTATGCCGGAGGCCAA	0.567000													3	16					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900113	4900113	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4900113C>T	ENST00000404991.1	-	1	1512	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	442					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GCTTTTTTAGCCCTAACCCAA	0.378000													11	143					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105926419	105926419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:105926419C>T	ENST00000357060.3	-	23	2981	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	WDR96_ENST00000428666.1_Missense_Mutation_p.E957K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	956										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCATCCTCTTCATGACGCTGT	0.388000													7	119					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423397	27423397	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:27423397T>C	ENST00000358918.3	-	5	780	c.581A>G	c.(580-582)gAc>gGc	p.D194G	APP_ENST00000439274.2_Missense_Mutation_p.D138G|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.D194G|APP_ENST00000359726.3_Missense_Mutation_p.D194G|APP_ENST00000354192.3_Missense_Mutation_p.D138G|APP_ENST00000348990.5_Missense_Mutation_p.D194G|APP_ENST00000440126.3_Missense_Mutation_p.D189G|APP_ENST00000448388.2_Missense_Mutation_p.D159G|APP_ENST00000346798.3_Missense_Mutation_p.D194G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	194					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ATCCACATTGTCACTTTCTTC	0.527000													8	100					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953379	56953379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56953379G>A	ENST00000504904.3	-	7	1704	c.985C>T	c.(985-987)Cct>Tct	p.P329S	ZNF667_ENST00000292069.6_Missense_Mutation_p.P329S|ZNF667_ENST00000342634.3_Missense_Mutation_p.P457S|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P329T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATTTAAAAGGATTCTCTAAA	0.368000													4	96					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508226	37508226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37508226G>A	ENST00000374660.1	+	40	3874	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1140K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1140K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGAAATTGAATCACACCA	0.393000													3	39					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154250708	154250708	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154250708G>A	ENST00000360256.4	-	1	320	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	40	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCAGCTCACCGAGATCACTTT	0.522000													39	159					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800233	67800233	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:67800233A>C	ENST00000544246.1	-	2	3031	c.2340T>G	c.(2338-2340)aaT>aaG	p.N780K	PCDH9_ENST00000377865.2_Missense_Mutation_p.N780K|PCDH9_ENST00000328454.5_Missense_Mutation_p.N780K|PCDH9_ENST00000377861.3_Missense_Mutation_p.N780K|PCDH9_ENST00000456367.1_Missense_Mutation_p.N780K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	780	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATAGGAGGCATTTCCAGCAG	0.458000													5	99					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236751	42236751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42236751G>A	ENST00000541110.1	-	5	1146	c.578C>T	c.(577-579)cCa>cTa	p.P193L	TRERF1_ENST00000354325.2_Missense_Mutation_p.P193L|TRERF1_ENST00000340840.2_Missense_Mutation_p.P193L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P193L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P193L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	193					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCGGTGCTGGGGGCTCCAT	0.622000													13	71					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211158520	211158520	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211158520T>A	ENST00000352451.3	-	5	630	c.483A>T	c.(481-483)gaA>gaT	p.E161D	MYL1_ENST00000341685.4_Missense_Mutation_p.E117D|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	161	EF-hand 2.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CTTTCATCTTTTCACCTGATG	0.438000													7	109					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538365	55538365	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55538365A>G	ENST00000220676.1	+	4	2071	c.1923A>G	c.(1921-1923)agA>agG	p.R641R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	641					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCACTGCAAGAATTGACAGAC	0.353000													5	39					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177244	153177244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:153177244C>T	ENST00000368747.1	+	2	171	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	21	Cys/Pro-rich.							p.P21S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACTGCGATCCCAAGTGTGA	0.443000													11	111					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683756	6683756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6683756G>A	ENST00000321535.4	+	2	699	c.569G>A	c.(568-570)aGg>aAg	p.R190K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	190										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGCTACATGAGGAATGAGAAT	0.488000													5	55					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318229	30318229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30318229G>A	ENST00000375377.1	-	3	949	c.848C>T	c.(847-849)cCa>cTa	p.P283L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	283	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGGGGAAATGGGGCTGAGCA	0.547000													4	60					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466432	68466432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:68466432G>A	ENST00000478136.1	+	3	611	c.121G>A	c.(121-123)Gga>Aga	p.G41R	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.G41R	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	41						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTTGCCAGAAGGAGGGACGTG	0.468000													4	24					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23749924	23749924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:23749924C>T	ENST00000355870.3	+	1	139	c.20C>T	c.(19-21)tCt>tTt	p.S7F	STK31_ENST00000433467.2_Missense_Mutation_p.S7F	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	7							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGGGTCACTCTTCTAGAGCT	0.582000													5	40					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57597906	57597906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57597906G>A	ENST00000217133.1	+	2	333	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	22					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TCAGTTCTGGGAGATGATTGG	0.547000													6	49					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312205	113312205	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:113312205G>A	ENST00000401783.2	-	2	1047	c.711C>T	c.(709-711)acC>acT	p.T237T	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.T214T|SVEP1_ENST00000374461.1_Silent_p.T214T|SVEP1_ENST00000302728.8_Silent_p.T237T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	237	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTCCTTTGGGGTGGAAGCCA	0.483000													3	21					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98602800	98602800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:98602800C>T	ENST00000359863.4	+	68	10749	c.10540C>T	c.(10540-10542)Cgg>Tgg	p.R3514W	TRRAP_ENST00000355540.3_Missense_Mutation_p.R3485W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R3503W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3514					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACCGCAGCCCGGCGGCTGTA	0.587000													23	156					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241715278	241715278	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:241715278C>T	ENST00000498729.2	-	11	1194	c.948G>A	c.(946-948)cgG>cgA	p.R316R	KIF1A_ENST00000320389.7_Silent_p.R316R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	316	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)		CCAGGTTTTCCCGGAGGAGCC	0.572000													4	66					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126249424	126249424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126249424G>A	ENST00000339582.2	-	8	2294	c.1486C>T	c.(1486-1488)Cat>Tat	p.H496Y	GRM8_ENST00000444921.2_Missense_Mutation_p.H496Y|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.H496Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	496					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTTTTAGATGAAGCTGATTG	0.363000										HNSCC(24;0.065)			16	186					0	0	1	0	0
LOC102723335	102723335	broad.mit.edu	37	15	101098935	101098935	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:101098935G>A	ENST00000559349.1	+	0	54				RP11-526I2.1_ENST00000557839.1_RNA																							ACTTGAGGGCGAAGAAATGCT	0.617000													5	72					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563245	75563245	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:75563245C>T	ENST00000336257.3	-	3	2432	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	CHST5_ENST00000541075.1_Silent_p.R352R|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	346					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGCGCGCATTCCTAGACGAAG	0.662000													13	117					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31879718	31879718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31879718C>T	ENST00000253354.1	+	6	682	c.521C>T	c.(520-522)tCc>tTc	p.S174F		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	174						extracellular space	lipid binding										GAAAGGCTCTCCTTCCTGGTG	0.527000											OREG0025868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	80					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124545	142124545	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142124545G>A	ENST00000390376.2	-	0	20																											AGGCCGCACAGCACAGGAGCC	0.602000													5	143					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268923	1268923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1268923G>A	ENST00000447027.1	+	31	10880	c.10822G>A	c.(10822-10824)Gga>Aga	p.G3608R	MUC5B_ENST00000529681.1_Missense_Mutation_p.G3605R|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3605	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGTGCGGCCGGAGGGGCAGT	0.682000													8	73					0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32124957	32124957	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:32124957C>T	ENST00000054950.3	+	5	1112	c.819C>T	c.(817-819)atC>atT	p.I273I	RCN1_ENST00000532942.1_Silent_p.I222I|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	273	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GCCACTGGATCCTCCCTCAAG	0.458000													6	87					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594960	41594960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41594960G>A	ENST00000330436.3	+	2	307	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	103					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.E103*(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CGGGCGAGGCGAGCAGGCCAC	0.652000													8	51					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859071	105859071	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:105859071G>A	ENST00000258456.1	+	1	872	c.756G>A	c.(754-756)caG>caA	p.Q252Q		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	252						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCAGCGGCAGCAACAGGTCA	0.652000													6	156					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153956	37153956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:37153956C>T	ENST00000331299.5	-	8	1293	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SLC25A21_ENST00000555449.1_Missense_Mutation_p.E260K	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	260					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TACCCTTCTTCCTGATAGACT	0.393000													7	154					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40759030	40759030	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40759030G>A	ENST00000216194.7	+	10	1112	c.1056G>A	c.(1054-1056)ttG>ttA	p.L352L	ADSL_ENST00000454266.2_Silent_p.L366L|ADSL_ENST00000342312.6_Silent_p.L352L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	352					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATACTATATTGAATACGCTGC	0.398000													23	255					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39864652	39864652	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:39864652C>T	ENST00000538976.1	+	20	2588	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Silent_p.I802I|DAAM2_ENST00000398904.2_Silent_p.I802I	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	802	FH2.				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)					TAGAGGTCATCCTAGCCATAG	0.612000													6	30					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38899578	38899578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:38899578C>T	ENST00000487273.2	+	12	1322	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	415	Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.P415L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TATAGTGCTCCCTCCTGTGGT	0.413000													3	86					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55798596	55798596	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55798596C>T	ENST00000309383.1	+	3	523	c.246C>T	c.(244-246)atC>atT	p.I82I	BRSK1_ENST00000590333.1_Silent_p.I98I|BRSK1_ENST00000585418.1_Silent_p.I82I	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	82	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCGGGAGATCGCCATCCTGA	0.607000													11	205					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97045402	97045402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:97045402C>T	ENST00000524981.3	+	3	262	c.262C>T	c.(262-264)Cag>Tag	p.Q88*				Q6ZTY8	CL063_HUMAN		62										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GACTCTGCTTCAGAACTGCTG	0.393000													9	113					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395297	154395297	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:154395297G>A	ENST00000435029.4	+	1	2038	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	626					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAACTAAAGGAATCCACAG	0.458000													6	125					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95201837	95201837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:95201837G>A	ENST00000354268.4	+	20	2586	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R408Q|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R840Q			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	838					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAACAGTACCGACACATTAAT	0.353000													14	140					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613330	121613330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121613330C>T	ENST00000489711.1	+	1	395	c.7C>T	c.(7-9)Cct>Tct	p.P3S	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P3S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	3					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.P3A(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AGCCATGAATCCTTTCCAGAA	0.493000													9	94					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52912969	52912969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:52912969G>A	ENST00000373980.4	+	2	774	c.357G>A	c.(355-357)atG>atA	p.M119I	PRKG1_ENST00000401604.2_Missense_Mutation_p.M104I|PRKG1_ENST00000373985.1_Missense_Mutation_p.M92I	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	104					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATGACTTTATGAAGAACTTGG	0.448000													6	71					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80543889	80543889	+	Silent	SNP	C	C	T	rs148172805	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:80543889C>T	ENST00000335255.5	+	7	1563	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	463					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCTCGACCTCCCAGCCACCCG	0.627000													9	69					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147902871	147902871	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:147902871T>C	ENST00000360693.3	-	5	530	c.392A>G	c.(391-393)aAc>aGc	p.N131S	HTR4_ENST00000377888.3_Missense_Mutation_p.N131S|HTR4_ENST00000521735.1_Missense_Mutation_p.N131S|HTR4_ENST00000517929.1_Missense_Mutation_p.N131S|HTR4_ENST00000520514.1_Missense_Mutation_p.N131S|HTR4_ENST00000362016.2_Missense_Mutation_p.N131S|HTR4_ENST00000314512.6_Missense_Mutation_p.N131S|HTR4_ENST00000521530.1_Missense_Mutation_p.N131S|HTR4_ENST00000354217.2_Missense_Mutation_p.N131S	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	131					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGTCATCTTGTTCCTATAGAC	0.498000													4	23					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36760865	36760865	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:36760865G>A	ENST00000361475.2	-	11	1826	c.1653C>T	c.(1651-1653)taC>taT	p.Y551Y	TGM2_ENST00000536701.1_Silent_p.Y470Y|TGM2_ENST00000536724.1_Silent_p.Y491Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	551					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGCAGTCACGGTATTTCTCAT	0.547000													37	318					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232321448	232321448	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:232321448G>A	ENST00000322723.4	-	11	1839	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	533	RRM 3.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TAGCGTCTTCGAATGAAGCAA	0.438000													10	66					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388965	20388965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20388965C>T	ENST00000315915.4	+	1	225	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAACCTTTCCTTTGTTGAC	0.433000													10	132					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74275204	74275204	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:74275204G>A	ENST00000295897.4	+	5	704	c.615_splice	c.e5+1	p.K205_splice	ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Splice_Site_p.K90_splice|ALB_ENST00000509063.1_Splice_Site_p.K205_splice|ALB_ENST00000503124.1_Splice_Site_p.K55_splice	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	205	Albumin 1.	Not glycated.			bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGTTGCCAAAGGTATTATGCA	0.383000													3	62					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21775302	21775302	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:21775302C>T	ENST00000328843.6	+	47	7537	c.7506C>T	c.(7504-7506)ttC>ttT	p.F2502F	DNAH11_ENST00000409508.3_Silent_p.F2495F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2502	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAGATATTTCATGGAGTTGT	0.443000									Kartagener syndrome				3	5					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189918898	189918898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:189918898G>A	ENST00000374866.3	-	36	2706	c.2432C>T	c.(2431-2433)cCt>cTt	p.P811L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	811				PT -> LL (in Ref. 1; CAA75002 and 9; CAA28454).	axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCTCCAGTAGGACCTGCCGG	0.388000													8	74					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538399	27538399	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27538399C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGCCCCAAATCCAAAGGTTGA	0.507000													32	279					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6692979	6692979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6692979C>T	ENST00000245907.6	-	26	3438	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1116					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1116R(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGAAGACCCCGTCGGGCTTC	0.557000													12	165					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43269030	43269030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:43269030C>T	ENST00000290650.4	-	39	4332	c.4254G>A	c.(4252-4254)tgG>tgA	p.W1418*	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1418					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAGGGTCATCCCAATACAAGG	0.388000													7	26					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140261919	140261919	+	Silent	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140261919A>C	ENST00000289272.2	+	1	66	c.66A>C	c.(64-66)gcA>gcC	p.A22A	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.A22A|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCCTCGCAGCCTGGGAGA	0.602000													7	241					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687892	60687892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:60687892C>T	ENST00000335712.6	-	4	2382	c.2155G>A	c.(2155-2157)Gga>Aga	p.G719R	BCL11A_ENST00000358510.4_Missense_Mutation_p.G685R|BCL11A_ENST00000356842.4_Missense_Mutation_p.G719R|BCL11A_ENST00000538214.1_Missense_Mutation_p.G685R|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.G388R|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	719					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCTCCCTCCACTTCCCGTG	0.647000			T	IGH@	B-CLL								8	75					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265822	89265822	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:89265822C>T	ENST00000464162.1	-	0	338																											GTTGCAAAATCTTCAGGCTGC	0.498000													12	189					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100151725	100151725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100151725C>T	ENST00000300176.4	+	5	717	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	199					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCCGTCAGTCAGTCTCACGC	0.602000													11	131					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117120199	117120199	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117120199C>T	ENST00000003084.6	+	1	183	c.51C>T	c.(49-51)ttC>ttT	p.F17F	CFTR_ENST00000454343.1_Silent_p.F17F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	17					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACTTTTTTTCAGGTGAGAAG	0.567000									Cystic Fibrosis				7	78					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486642	70486642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:70486642G>A	ENST00000433351.2	+	2	291	c.263G>A	c.(262-264)gGa>gAa	p.G88E	PCYOX1_ENST00000505044.2_Missense_Mutation_p.G11E|PCYOX1_ENST00000264441.5_Missense_Mutation_p.G88E|PCYOX1_ENST00000545138.1_Missense_Mutation_p.G10E	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	88					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TACGAGGCAGGAGGTTCTGTC	0.468000													16	404					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304166	3304166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3304166G>A	ENST00000219596.1	-	2	941	c.902C>T	c.(901-903)tCg>tTg	p.S301L	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	301					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	accggtgacCGAATGTTCTGG	0.562000													3	47					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069779	114069779	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:114069779G>A	ENST00000462705.1	-	11	1748	c.927C>T	c.(925-927)tcC>tcT	p.S309S	ZBTB20_ENST00000471418.1_Silent_p.S309S|ZBTB20_ENST00000481632.1_Silent_p.S309S|ZBTB20_ENST00000393785.2_Silent_p.S309S|ZBTB20_ENST00000464560.1_Silent_p.S309S|ZBTB20_ENST00000474710.1_Silent_p.S382S|ZBTB20_ENST00000357258.3_Silent_p.S309S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCTATGGAGGAGCTGA	0.652000													5	53					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755512	10755512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10755512G>A	ENST00000416569.2	-	3	1902	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	XKR6_ENST00000304437.2_Nonsense_Mutation_p.R347*	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	626						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGTCCGTCTCGATATCGAATG	0.473000													13	114					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090919	32090919	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32090919G>A	ENST00000438447.1	+	20	7753	c.7365G>A	c.(7363-7365)acG>acA	p.T2455T	PDZD2_ENST00000282493.3_Silent_p.T2455T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2455					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCACCCCAACGATGACCCTGG	0.567000													13	96					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7679270	7679270	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:7679270G>A	ENST00000256861.6	-	5	651	c.573C>T	c.(571-573)atC>atT	p.I191I	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I191I|ITIH5_ENST00000397145.2_Silent_p.I191I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	191					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I191I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTCTCCAGGATATTCACGT	0.652000													7	98					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10391803	10391803	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:10391803C>T	ENST00000397077.1	-	15	2837	c.2262G>A	c.(2260-2262)ctG>ctA	p.L754L	ATP2B2_ENST00000360273.2_Silent_p.L799L|ATP2B2_ENST00000352432.4_Silent_p.L799L|ATP2B2_ENST00000343816.4_Silent_p.L785L|ATP2B2_ENST00000383800.4_Silent_p.L754L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	799					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TACCTTTAACCAGGGTATGCT	0.597000													8	67					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112641098	112641098	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:112641098A>G	ENST00000393104.2	+	4	478	c.118A>G	c.(118-120)Aac>Gac	p.N40D	PDCD4_ENST00000280154.7_Missense_Mutation_p.N51D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	51					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATCCTCCATTAACGAAGCTAG	0.443000													12	89					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895590	42895590	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:42895590A>T	ENST00000399770.2	+	1	307	c.307A>T	c.(307-309)Aat>Tat	p.N103Y		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	103					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAAGCAAAAATGGCACAGT	0.428000													5	87					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891299	18891299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18891299G>A	ENST00000317658.3	+	1	255	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	33					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCCTTTGATGATCTCTGTCT	0.458000													3	43					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15888703	15888703	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:15888703C>T	ENST00000375847.3	+	9	1385	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Silent_p.S407S|DNAJC16_ENST00000375838.1_Silent_p.S407S	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	407					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTTTCCTGTCCTTTGCCCTGG	0.458000													20	197					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038272	34038272	+	Missense_Mutation	SNP	C	C	T	rs142478967		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:34038272C>T	ENST00000382499.2	-	17	2242	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	SYNJ1_ENST00000433931.2_Missense_Mutation_p.R748Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R704Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R709Q|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R709Q	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	709	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACTCAATTTTCGTGCTATTTC	0.363000													3	41					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042224	86042224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:86042224C>T	ENST00000414626.2	+	10	2526	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	LRRCC1_ENST00000360375.3_Missense_Mutation_p.S566F			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	566					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTAGAACTTCCCTTCATCGA	0.368000													12	88					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346528	71346528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71346528C>T	ENST00000413702.1	+	4	355	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MUC7_ENST00000456088.1_Nonsense_Mutation_p.R23*|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Nonsense_Mutation_p.R23*	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	23						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAGTGAAGGTCGAGAAAGGGA	0.403000													3	64					0	0	1	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76681113	76681113	+	RNA	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:76681113T>C	ENST00000459742.1	+	0	58																											GCACAAATGGTTCCTCTCCTC	0.517000													7	122					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971536	57971536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57971536G>A	ENST00000302592.6	-	1	117	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCACAAAGAGGAGGTTTTGA	0.448000													7	67					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105798220	105798220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:105798220C>T	ENST00000353479.5	-	45	3304	c.3014G>A	c.(3013-3015)gGc>gAc	p.G1005D	COL17A1_ENST00000369733.3_Missense_Mutation_p.G960D	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1005	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)		GCTGATAGAGCCCGGAGGCCC	0.607000													29	184					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152720830	152720830	+	Silent	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152720830T>G	ENST00000367255.5	-	48	7759	c.7158A>C	c.(7156-7158)atA>atC	p.I2386I	SYNE1_ENST00000448038.1_Silent_p.I2393I|SYNE1_ENST00000265368.4_Silent_p.I2386I|SYNE1_ENST00000423061.1_Silent_p.I2393I|SYNE1_ENST00000341594.5_Silent_p.I2423I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2386					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATGTTTCTTTATCAGACCAG	0.507000										HNSCC(10;0.0054)			12	120					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688698	131688698	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131688698G>A	ENST00000409359.1	+	3	3934	c.2736G>A	c.(2734-2736)agG>agA	p.R912R	ARHGEF4_ENST00000525839.1_Silent_p.R56R|ARHGEF4_ENST00000428230.2_Silent_p.R56R|ARHGEF4_ENST00000409303.1_Silent_p.R56R|ARHGEF4_ENST00000326016.5_Silent_p.R56R|ARHGEF4_ENST00000392953.3_Silent_p.R56R			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	56					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CACAGCCTAGGGGCATCCCTC	0.607000													3	30					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531841	75531841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:75531841G>A	ENST00000297785.3	-	9	1084	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	344					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTACCTGAGGGCCTTGAGTG	0.398000													4	66					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242046057	242046057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242046057C>T	ENST00000405260.1	-	18	4594	c.3896G>A	c.(3895-3897)gGg>gAg	p.G1299E	PASK_ENST00000358649.4_Missense_Mutation_p.G1306E|PASK_ENST00000234040.4_Missense_Mutation_p.G1299E|PASK_ENST00000544142.1_Missense_Mutation_p.G1113E|PASK_ENST00000539818.1_Missense_Mutation_p.G1083E	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1299					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AACGGGGCCCCCACAAAGCTC	0.567000													9	93					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541875	187541875	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187541875G>A	ENST00000441802.2	-	10	6074	c.5865C>T	c.(5863-5865)tcC>tcT	p.S1955S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1955	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTGCCATCGGAAGCTCTAA	0.453000										HNSCC(5;0.00058)			4	75					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874242	36874242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36874242G>A	ENST00000429976.2	-	21	6947	c.6700C>T	c.(6700-6702)Cat>Tat	p.H2234Y	TRANK1_ENST00000301807.6_Missense_Mutation_p.H1684Y|TRANK1_ENST00000428977.2_Missense_Mutation_p.H1684Y			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2234					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTCTCTGATGGAAATGCTTA	0.373000													13	87					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448906	27448906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:27448906G>A	ENST00000337929.3	+	4	723	c.250G>A	c.(250-252)Gat>Aat	p.D84N	IL21R_ENST00000564089.1_Missense_Mutation_p.D84N|IL21R_ENST00000395754.4_Missense_Mutation_p.D84N|IL21R_ENST00000395755.1_Missense_Mutation_p.D84N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	84					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCCACATGGATGTATTCCA	0.557000			T	BCL6	NHL								8	110					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247836167G>A	ENST00000359688.2	-	1	198	c.177C>T	c.(175-177)ttC>ttT	p.F59F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000													4	28					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027575	9027575	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9027575C>T	ENST00000383836.3	-	22	3355	c.2928G>A	c.(2926-2928)cgG>cgA	p.R976R	SRGAP3_ENST00000360413.3_Silent_p.R952R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	976					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCGAGTTCCCGCAACTCGT	0.642000			T	RAF1	pilocytic astrocytoma								5	72					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53431199	53431199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53431199G>A	ENST00000262056.9	+	11	1639	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	EIF4B_ENST00000416762.3_Missense_Mutation_p.R399Q|EIF4B_ENST00000420463.3_Missense_Mutation_p.R443Q|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	438					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACAGATGCACGAAGGAGAGAG	0.448000													5	22					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057221	95057221	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95057221C>T	ENST00000329597.7	+	5	1236	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SERPINA5_ENST00000553780.1_Silent_p.I342I|SERPINA5_ENST00000554866.1_Silent_p.I342I|SERPINA5_ENST00000554276.1_Silent_p.I342I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	342					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACTCAAATATCCAGGTGTCTG	0.488000													15	89					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82431795	82431795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:82431795C>T	ENST00000370728.1	+	14	2704	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	LPHN2_ENST00000370721.1_Missense_Mutation_p.P612S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P674S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P674S|LPHN2_ENST00000370715.1_Missense_Mutation_p.P674S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P687S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P674S|LPHN2_ENST00000370713.1_Missense_Mutation_p.P674S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.P687S|LPHN2_ENST00000370717.2_Missense_Mutation_p.P687S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P687S|LPHN2_ENST00000370730.1_Missense_Mutation_p.P687S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P674S|LPHN2_ENST00000370727.1_Missense_Mutation_p.P687S			O95490	LPHN2_HUMAN	latrophilin 2	687					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P674S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTAAATTTCCTCTGGGCAT	0.438000													13	94					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162624	48162624	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:48162624G>C	ENST00000311303.3	-	9	1606	c.1261C>G	c.(1261-1263)Cca>Gca	p.P421A	ABCC12_ENST00000416054.1_Missense_Mutation_p.P421A|ABCC12_ENST00000448542.1_Missense_Mutation_p.P421A	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	421						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTAAGATGGGGGGCTTTTA	0.403000													7	106					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286504	240286504	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:240286504C>T	ENST00000319653.9	+	2	1871	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	547					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAGCTGTTCAGCCAGCAGG	0.547000													10	70					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188777	63188777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:63188777C>T	ENST00000399298.3	-	4	880	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	TMEM26_ENST00000399293.1_Missense_Mutation_p.R171Q	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	171						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGTTGATCTCGAGTGATCCC	0.443000													4	39					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10088126	10088126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10088126G>A	ENST00000264828.3	-	43	3234	c.3149C>T	c.(3148-3150)cCc>cTc	p.P1050L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1050	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)			TTTGCCAGTGGGGCCAGGGGG	0.657000													5	75					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199120	24199120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24199120G>A	ENST00000265769.4	+	16	1790	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	ADAM28_ENST00000397649.3_Missense_Mutation_p.M307I|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	560	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGATACCATGTGTGGGAAGT	0.383000													13	200					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179587780	179587780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:179587780G>A	ENST00000444136.1	+	5	1128	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TDRD5_ENST00000294848.8_Missense_Mutation_p.G293E|TDRD5_ENST00000367614.1_Missense_Mutation_p.G293E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	293					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGACCTGGAGGAACTATCAGT	0.313000													4	48					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16126992	16126992	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:16126992C>T	ENST00000399408.2	+	6	817	c.642C>T	c.(640-642)tcC>tcT	p.S214S	ABCC1_ENST00000351154.5_Silent_p.S214S|ABCC1_ENST00000349029.5_Silent_p.S214S|ABCC1_ENST00000345148.5_Silent_p.S214S|ABCC1_ENST00000346370.5_Silent_p.S214S|ABCC1_ENST00000399410.3_Silent_p.S214S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	214					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAGCGCTTCCTTCCTGTCGA	0.522000													7	89					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239094	3239094	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3239094C>T	ENST00000217939.6	-	5	4786	c.4632G>A	c.(4630-4632)gtG>gtA	p.V1544V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1544						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCATTGTTCACTGGGGTTG	0.418000													18	75					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127645737	127645737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:127645737C>T	ENST00000508053.1	-	46	6112	c.5138G>A	c.(5137-5139)gGa>gAa	p.G1713E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1713E			P35556	FBN2_HUMAN	fibrillin 2	1713	EGF-like 28; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTGTAATTTCCCAGGGTGTT	0.433000													4	88					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364134	23364134	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23364134C>T	ENST00000343070.2	+	3	500	c.324C>T	c.(322-324)atC>atT	p.I108I	SCNN1B_ENST00000568923.1_Silent_p.I108I|SCNN1B_ENST00000307331.5_Silent_p.I153I|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Silent_p.I108I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	108					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATTCCAAAATCAAGCATTTGC	0.502000													11	114					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765281	19765281	+	Silent	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:19765281A>C	ENST00000405844.1	-	3	1010	c.315T>G	c.(313-315)ctT>ctG	p.L105L	TMEM196_ENST00000493519.1_Silent_p.L37L|TMEM196_ENST00000433641.1_Silent_p.L37L|TMEM196_ENST00000422233.1_Silent_p.L37L|TMEM196_ENST00000405764.3_Silent_p.L105L			Q5HYL7	TM196_HUMAN	transmembrane protein 196	111						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACATGGAGGCAAGGTGCAGTG	0.522000													9	71					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865355	57865355	+	Silent	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:57865355A>C	ENST00000228682.2	+	12	2923	c.2832A>C	c.(2830-2832)ccA>ccC	p.P944P	GLI1_ENST00000543426.1_Silent_p.P816P|GLI1_ENST00000546141.1_Silent_p.P903P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	944					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAAAGCTCCAGTGAACACAT	0.562000													15	83					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746097	110746097	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110746097C>T	ENST00000368919.3	-	8	1779	c.1713G>A	c.(1711-1713)agG>agA	p.R571R	SLC22A16_ENST00000330550.4_Silent_p.R537R	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	571					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GACCAGAATCCCTGGGGGTAA	0.408000													16	147					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913700	39913700	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39913700G>A	ENST00000393931.3	-	12	2131	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	JUP_ENST00000310706.5_Silent_p.S671S|JUP_ENST00000393930.1_Silent_p.S671S|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	671					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCTTGAAGAGGGAGTTGGTGA	0.592000													8	151					0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76429781	76429781	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:76429781C>T	ENST00000238682.3	-	5	1101	c.804G>A	c.(802-804)aaG>aaA	p.K268K	TGFB3_ENST00000556285.1_Silent_p.K268K	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	268					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CCTTCTGCTTCTTGAGGCGCC	0.572000													15	136					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19431801	19431801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19431801C>T	ENST00000392313.5	+	1	179	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	MAU2_ENST00000262815.8_Missense_Mutation_p.R45C	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	45	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCCCAAAATCCGCCTGTGCGT	0.687000													3	19					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106737216	106737216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:106737216G>A	ENST00000369701.3	+	4	1146	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	307						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCCAAGCAAGAGGACTGGGT	0.453000													4	48					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228524724	228524724	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:228524724G>A	ENST00000570156.2	+	76	19502	c.19428G>A	c.(19426-19428)aaG>aaA	p.K6476K	OBSCN_ENST00000366709.4_Silent_p.K2638K|OBSCN_ENST00000422127.1_Silent_p.K5519K|OBSCN_ENST00000366707.4_Silent_p.K3153K|OBSCN_ENST00000284548.11_Silent_p.K5519K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5519	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCTGCCAAGGAGGCCCTCG	0.607000													4	17					0	0	1	0	0
PSMB2	5690	broad.mit.edu	37	1	36096883	36096883	+	Missense_Mutation	SNP	G	G	A	rs150552802		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:36096883G>A	ENST00000373237.3	-	3	688	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	ACCCGACTCCGAAGACAGTCA	0.393000													12	77					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828496	61828496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61828496G>A	ENST00000280772.1	-	37	12334	c.12143C>T	c.(12142-12144)tCg>tTg	p.S4048L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4048					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGTTGTAACCGAAGGCTGGCC	0.473000													11	105					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572837	11572837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11572837C>T	ENST00000262442.3	+	17	3147	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q1027*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1027	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCTGGGTCAGTTTCTGCT	0.522000													8	81					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285582	238285582	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:238285582A>G	ENST00000295550.4	-	7	3355	c.2903T>C	c.(2902-2904)gTt>gCt	p.V968A	COL6A3_ENST00000409809.1_Missense_Mutation_p.V762A|COL6A3_ENST00000347401.3_Missense_Mutation_p.V767A|COL6A3_ENST00000472056.1_Missense_Mutation_p.V361A|COL6A3_ENST00000392003.2_Missense_Mutation_p.V561A|COL6A3_ENST00000392004.3_Missense_Mutation_p.V762A|COL6A3_ENST00000346358.4_Missense_Mutation_p.V768A|COL6A3_ENST00000353578.4_Missense_Mutation_p.V762A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	968	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAAAGGCACAACCCCACTCTG	0.562000													8	158					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878025	44878025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:44878025C>T	ENST00000355387.2	+	2	706	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RNF220_ENST00000372247.2_Missense_Mutation_p.R86C|RNF220_ENST00000361799.2_Missense_Mutation_p.R86C			Q5VTB9	RN220_HUMAN	ring finger protein 220	86					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTTTGCCAATCGTGATTTCCC	0.507000													53	495					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570582	43570582	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43570582G>A	ENST00000216129.6	-	7	1020	c.957C>T	c.(955-957)acC>acT	p.T319T		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	319	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				AGCGCGGGTGGGTGAGGCTGC	0.647000													8	109					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107618514	107618514	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107618514G>A	ENST00000393561.1	-	7	1234	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	LAMB1_ENST00000393560.1_Silent_p.G326G|LAMB1_ENST00000222399.6_Silent_p.G326G			P07942	LAMB1_HUMAN	laminin, beta 1	326	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTGTTTCGGCCTTCAGCAG	0.438000													9	93					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10260313	10260313	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10260313T>C	ENST00000340748.4	-	25	2589	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	DNMT1_ENST00000359526.4_Missense_Mutation_p.D801G|DNMT1_ENST00000540357.1_Missense_Mutation_p.D785G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	785	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTTGCTGCTGTCCTCCCACAG	0.592000													22	194					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114089932	114089932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:114089932G>A	ENST00000374428.1	-	1	868	c.869C>T	c.(868-870)cCt>cTt	p.P290L	OR2K2_ENST00000302681.1_Missense_Mutation_p.P261L			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGATGAAGAAGGCTTTAGGTA	0.413000													9	42					0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10562080	10562080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10562080G>A	ENST00000309384.1	-	1	276	c.95C>T	c.(94-96)tCa>tTa	p.S32L	KLRC4-KLRK1_ENST00000539300.1_Silent_p.F23F	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	32					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TTTGGTTCCTGAAATGGAGAT	0.403000													16	161					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30492628	30492628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:30492628C>T	ENST00000355904.4	-	3	461	c.179G>A	c.(178-180)gGa>gAa	p.G60E		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	60					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GTTAAATGATCCATTGCTATG	0.323000													4	45					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995601	68995601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:68995601C>T	ENST00000288368.4	+	18	2282	c.2005C>T	c.(2005-2007)Ctt>Ttt	p.L669F	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	669	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTAAGAGTTCTTGTGAGCAC	0.318000													6	50					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37331557	37331557	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37331557G>A	ENST00000394303.3	-	14	1893	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	562					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCCGGTTCCGGTTGTCGGTCA	0.662000											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	273					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005547	25005547	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25005547G>A	ENST00000382114.4	-	8	1349	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	388						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCTGGACAGGATGAGATGCG	0.502000													4	102					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640552	131640552	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131640552G>A	ENST00000368648.3	-	13	1245	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	EBF3_ENST00000355311.5_Silent_p.I400I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	400					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCTTCAAGATGATCTCCTGCA	0.672000													9	101					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726433	67726433	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:67726433C>T	ENST00000433211.1	-	17	2511	c.2337G>A	c.(2335-2337)ctG>ctA	p.L779L	CTNNA3_ENST00000373744.4_Silent_p.L779L|CTNNA3_ENST00000373735.1_Silent_p.L118L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	779					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCAGATTTTCAGTTGGTGGG	0.428000													4	70					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349582	233349582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:233349582C>T	ENST00000304546.1	-	5	1198	c.988G>A	c.(988-990)Gac>Aac	p.D330N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D330N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	330					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCCGTAGGTCGTCATGCTCT	0.617000													10	124					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444500	138444500	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138444500C>T	ENST00000310018.2	-	8	918	c.636G>A	c.(634-636)gtG>gtA	p.V212V	ATP6V0A4_ENST00000393054.1_Silent_p.V212V|ATP6V0A4_ENST00000353492.4_Silent_p.V212V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	212					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTCCCACCGTCACAGGATCCT	0.527000													5	61					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970103	123970103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:123970103C>T	ENST00000369005.1	+	9	6503	c.6163C>T	c.(6163-6165)Cgt>Tgt	p.R2055C	TACC2_ENST00000360561.3_Missense_Mutation_p.R133C|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.R201C|TACC2_ENST00000513429.1_Missense_Mutation_p.R201C|TACC2_ENST00000515273.1_Missense_Mutation_p.R2059C|TACC2_ENST00000515603.1_Missense_Mutation_p.R2010C|TACC2_ENST00000334433.3_Missense_Mutation_p.R2055C|TACC2_ENST00000369004.3_Missense_Mutation_p.R133C|TACC2_ENST00000453444.2_Missense_Mutation_p.R2059C|TACC2_ENST00000260733.3_Missense_Mutation_p.R133C|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000368999.1_Missense_Mutation_p.R133C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2055						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)				CTTGGAGCCTCGTGCCTCAGA	0.527000													10	82					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018402	161018402	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:161018402C>T	ENST00000368013.3	-	12	2729	c.2409G>A	c.(2407-2409)agG>agA	p.R803R	ARHGAP30_ENST00000368015.1_Silent_p.R626R|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	803	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCCCTTCTCCCTCTGTCCTT	0.527000													8	185					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303560	22303560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:22303560C>T	ENST00000337107.6	+	1	47	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	10					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGTTCCCTCCTCCTTGTGGC	0.527000													41	393					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139732	142139732	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142139732G>A	ENST00000390374.3	-	0	83																											CTGTCCCTAGGAAACCCAGGA	0.532000													9	80					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888154	34888154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34888154C>T	ENST00000360581.1	+	8	1032	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	NPSR1_ENST00000381539.3_Missense_Mutation_p.L302F|NPSR1_ENST00000359791.1_Missense_Mutation_p.L302F|NPSR1_ENST00000531252.1_Missense_Mutation_p.L291F|NPSR1_ENST00000381542.1_Missense_Mutation_p.L236F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	302						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTTCAACCTCCTTCCAGACAC	0.493000													37	243					0	0	1	0	0
SLC31A1	1317	broad.mit.edu	37	9	116021091	116021091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:116021091C>T	ENST00000374212.4	+	4	472	c.320C>T	c.(319-321)cCt>cTt	p.P107L	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.P107L	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	107						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						AATTCCATGCCTGTCCCAGGA	0.453000													15	76					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100442	110100442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110100442G>A	ENST00000518632.1	+	2	1052	c.701G>A	c.(700-702)tGg>tAg	p.W234*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W234*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	234						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTAAGACATGGAAAAATGAT	0.378000													4	20					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015056	53015056	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53015056G>A	ENST00000421239.2	+	6	1666	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAGACACAAGATAATTCATA	0.408000													15	67					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751273	19751273	+	Missense_Mutation	SNP	C	C	T	rs146654670		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:19751273C>T	ENST00000400113.3	-	4	954	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	284					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.E284K(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACAGCTGCTCGTGGTAGGCC	0.607000													29	279					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918586	47918586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47918586G>A	ENST00000285116.3	+	7	948	c.737G>A	c.(736-738)gGg>gAg	p.G246E	SKA1_ENST00000398452.2_Missense_Mutation_p.G246E|SKA1_ENST00000488454.1_Missense_Mutation_p.G95E|SKA1_ENST00000417656.2_Missense_Mutation_p.G200E	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	246					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GAGGTCCGAGGGGGAGGACTT	0.403000													6	102					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72067053	72067053	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:72067053C>T	ENST00000265381.4	-	9	2175	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	651					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TACAGTTTTCCGACTTGGAGA	0.532000													18	183					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857226	9857226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857226G>A	ENST00000396573.2	-	14	4484	c.4175C>T	c.(4174-4176)cCa>cTa	p.P1392L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1392L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1392L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H1278Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H1278Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H1121Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1392					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCCTGGGATGGCAACGAGTG	0.547000													10	76					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724778	71724778	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:71724778G>A	ENST00000393695.3	-	15	4102	c.3771C>T	c.(3769-3771)gcC>gcT	p.A1257A	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.A1257A	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1257					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTCTGACTCGGCCATCACCA	0.607000			T	RARA	APL								8	112					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250839	190250839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:190250839C>T	ENST00000367462.3	-	3	509	c.278G>A	c.(277-279)aGa>aAa	p.R93K	FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		93						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAAATTTCTTCTCTCAACTGC	0.398000													5	30					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515271	54515271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54515271G>A	ENST00000252729.2	+	4	1201	c.611G>A	c.(610-612)aGc>aAc	p.S204N	CACNG6_ENST00000352529.1_Missense_Mutation_p.S133N|CACNG6_ENST00000346968.2_Missense_Mutation_p.S158N	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	204						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGAGAGTCAGCCCGGAGCCT	0.706000													18	75					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958711	49958711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:49958711G>A	ENST00000376056.2	-	5	776	c.626C>T	c.(625-627)tCc>tTc	p.S209F	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S209F|AKAP4_ENST00000358526.2_Missense_Mutation_p.S218F|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	218					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACGTAGAAGGAAAGGTCATC	0.438000													11	64					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20033087G>A	ENST00000377340.2	-	2	414	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F|CRNKL1_ENST00000536226.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000													20	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074058	9074058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9074058G>A	ENST00000397910.4	-	3	13591	c.13388C>T	c.(13387-13389)aCc>aTc	p.T4463I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4465	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						AGGAGGTATGGTTGTGACCAA	0.507000													5	59					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447216	43447216	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43447216G>A	ENST00000395891.1	+	8	1292	c.687G>A	c.(685-687)ctG>ctA	p.L229L	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.L229L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	229	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCTTATCTGAAGATTTCCA	0.443000													6	48					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350423	30350423	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:30350423G>A	ENST00000359358.4	-	2	570	c.132C>T	c.(130-132)ttC>ttT	p.F44F	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.F44F	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	44	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTGGCAATGGAACTGCTGGC	0.672000													5	87					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643546	94643546	+	Silent	SNP	G	G	A	rs139806754	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:94643546G>A	ENST00000260526.6	-	21	2840	c.2658C>T	c.(2656-2658)ttC>ttT	p.F886F	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	886	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGGACCCATCGAAGATCTTCT	0.443000													9	94					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004434	44004434	+	Missense_Mutation	SNP	C	C	T	rs147806364		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:44004434C>T	ENST00000262726.7	-	22	2862	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R718Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	870	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTTATGTCCCGGCGTCGAAG	0.438000													17	62					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288855	107288855	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107288855G>A	ENST00000277216.3	-	1	635	c.636C>T	c.(634-636)ctC>ctT	p.L212L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAAAATCACGAGCAGAGGAA	0.418000													10	63					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499528	103499528	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:103499528C>T	ENST00000372588.4	-	1	86	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	1					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GAAGAGACTCCATGCTTCAAG	0.587000													32	145					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485521	52485521	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52485521G>A	ENST00000232975.3	-	5	394	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	114	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	AGCTCATCCAGGTCGATGTAG	0.612000													7	83					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60886789	60886789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60886789G>A	ENST00000347785.3	+	5	713	c.547G>A	c.(547-549)Ggt>Agt	p.G183S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCCTGGGGGGTACCATCAG	0.617000													10	90					0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471596	39471596	+	Missense_Mutation	SNP	C	C	T	rs76002044		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39471596C>T	ENST00000334202.3	-	1	351	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	103						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CATTTTGTGTCGCATATAGGT	0.612000													5	47					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510979	4510979	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4510979C>T	ENST00000307632.3	+	1	871	c.849C>T	c.(847-849)ctC>ctT	p.L283L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTTTCTATCTCCTTTTCCCAC	0.478000													15	173					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21444710	21444710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:21444710G>A	ENST00000425654.2	+	2	640	c.160G>A	c.(160-162)Gat>Aat	p.D54N	CNKSR2_ENST00000279451.4_Missense_Mutation_p.D54N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.D54N|CNKSR2_ENST00000379510.3_Missense_Mutation_p.D54N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	54	SAM.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGAGCTAGAAGATCTGGGGGT	0.478000													9	28					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127961426	127961426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:127961426G>A	ENST00000223073.1	-	14	1570	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.R345*|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	486					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGCCTGGTTCGGGAGACAAAG	0.473000													5	71					0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644918	644918	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:644918G>A	ENST00000246104.6	-	2	898	c.321C>T	c.(319-321)tcC>tcT	p.S107S	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AGGCGTCCATGGAGTAGCTGT	0.781000													3	26					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369306	86369306	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:86369306G>A	ENST00000400286.2	-	2	1936	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	446						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCTTAATGGCATTGTATT	0.333000													4	42					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515886	101515886	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101515886G>A	ENST00000553692.1	+	0	28				MIR655_ENST00000362159.2_RNA																							TTTCGTTTCAGAACTATGCAA	0.443000													13	135					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935574	94935574	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94935574G>A	ENST00000337425.5	-	2	732	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	SERPINA9_ENST00000380365.3_Silent_p.L202L|SERPINA9_ENST00000546329.1_Silent_p.L184L|SERPINA9_ENST00000424550.2_Silent_p.L71L|SERPINA9_ENST00000448305.2_Silent_p.L122L|SERPINA9_ENST00000298845.7_Silent_p.L120L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	202					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGTTCACCAGAACCATGGCC	0.388000													17	100					0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104391300	104391300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:104391300C>T	ENST00000360814.4	-	7	821	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	GLT8D2_ENST00000548660.1_Missense_Mutation_p.R139Q|GLT8D2_ENST00000546436.1_Missense_Mutation_p.R139Q	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	139						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAGATAAAATCGAACAAAGTT	0.438000													5	91					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661409	50661409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:50661409C>T	ENST00000371824.1	+	5	942	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	ELAVL4_ENST00000371823.4_Missense_Mutation_p.P229S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P246S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P229S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P232S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.P234S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P234S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	229					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTACCAGTCCCCCAACCGGCG	0.602000													15	107					0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10464126	10464126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10464126C>T	ENST00000381908.3	+	4	487	c.227C>T	c.(226-228)tCc>tTc	p.S76F	KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000350274.5_Missense_Mutation_p.S45F|KLRD1_ENST00000543420.1_Missense_Mutation_p.S76F|KLRD1_ENST00000543777.1_Missense_Mutation_p.S55F|KLRD1_ENST00000336164.4_Missense_Mutation_p.S76F|KLRD1_ENST00000381907.4_Missense_Mutation_p.S76F			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	76	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TACTTCATTTCCAGTGAACAG	0.448000													11	91					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749488	142749488	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142749488C>T	ENST00000418316.1	+	1	72	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCTTCTCCTCCTTTGGTGAGC	0.507000													5	133					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002468	69002468	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:69002468C>T	ENST00000295381.3	+	2	596	c.177C>T	c.(175-177)atC>atT	p.I59I	ARHGAP25_ENST00000467265.1_Silent_p.I59I|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Silent_p.I33I|ARHGAP25_ENST00000409030.3_Silent_p.I52I|ARHGAP25_ENST00000497079.1_Silent_p.I52I|ARHGAP25_ENST00000409220.1_Silent_p.I52I|ARHGAP25_ENST00000409202.3_Silent_p.I59I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	59	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAGGTCCATCGTGAAGAACT	0.582000													24	192					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135309544	135309544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:135309544G>A	ENST00000316077.9	-	12	2153	c.1933C>T	c.(1933-1935)Caa>Taa	p.Q645*	MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q610*|MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q627*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	645						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTGCTTGGCCTCCAACT	0.403000													23	50					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071234	104071234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:104071234G>A	ENST00000388887.2	+	25	2854	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	884	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGCAGGCAGAATGCATCAA	0.502000													12	141					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128248	56128248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56128248C>T	ENST00000303039.3	+	1	558	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TATAATCAATCATTTTTACTG	0.368000													4	34					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114301	117114301	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117114301G>A	ENST00000310357.3	-	6	1806	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	GPRC6A_ENST00000530250.1_Silent_p.I420I|GPRC6A_ENST00000368549.3_Silent_p.I524I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	595					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCAGGAGTAGGATGGCCAAGG	0.438000													6	74					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082322	16082322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:16082322G>A	ENST00000281043.3	+	2	433	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	46					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GACCCCCCCGGGGGAGGACAT	0.652000			A		neuroblastoma								7	46					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15190649	15190649	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:15190649G>A	ENST00000355694.2	-	11	1044	c.810C>T	c.(808-810)ctC>ctT	p.L270L	TTC39B_ENST00000297615.5_Silent_p.L267L|TTC39B_ENST00000512701.1_Silent_p.L336L|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507285.1_Silent_p.L171L|TTC39B_ENST00000380850.4_Silent_p.L336L|TTC39B_ENST00000507993.1_Silent_p.L171L	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	270							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GTAACTGCAGGAGGCCCAACT	0.388000													3	27					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083119	152083119	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152083119C>T	ENST00000368804.1	-	2	2573	c.2574G>A	c.(2572-2574)gaG>gaA	p.E858E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	858					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGATCCTCCTGGAGGC	0.627000													8	109					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967994	93967994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:93967994C>T	ENST00000369303.4	-	11	2117	c.1933G>A	c.(1933-1935)Ggt>Agt	p.G645S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	645	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGACTTCACCGAATTCTCCT	0.348000													14	97					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177547340	177547340	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:177547340C>T	ENST00000274605.5	+	3	851	c.492C>T	c.(490-492)gcC>gcT	p.A164A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	164						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCCGGGCCAGCCAGGCCC	0.701000													3	11					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561341	9561341	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:9561341C>T	ENST00000378429.3	-	5	987	c.441G>A	c.(439-441)agG>agA	p.R147R	PAK7_ENST00000353224.5_Silent_p.R147R|PAK7_ENST00000378423.1_Silent_p.R147R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	147	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GACTCTTCTCCCTGTACTTTT	0.517000													10	146					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603768	219603768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219603768C>T	ENST00000392102.1	+	3	1709	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	TTLL4_ENST00000442769.1_Missense_Mutation_p.P457S|TTLL4_ENST00000457313.1_Missense_Mutation_p.P292S|TTLL4_ENST00000258398.4_Missense_Mutation_p.P457S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	457					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCCCCTTTTCCTCAAACTCT	0.567000													4	45					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32298412	32298412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:32298412G>A	ENST00000217398.3	-	3	446	c.344C>T	c.(343-345)cCt>cTt	p.P115L	PXMP4_ENST00000344022.3_Intron|PXMP4_ENST00000409299.3_Silent_p.A108A			Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	0						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCCCGAGGAAGGCCGCCAGGA	0.562000													16	142					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274811	29274811	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29274811G>A	ENST00000377160.2	+	1	409	c.345G>A	c.(343-345)gtG>gtA	p.V115V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCTCACAGTGATGTCTTATG	0.448000													6	82					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90152080	90152080	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90152080C>T	ENST00000268138.7	+	15	2874	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S	TICRR_ENST00000560985.1_Silent_p.S922S|KIF7_ENST00000558928.1_5'UTR					TOPBP1-interacting checkpoint and replication regulator																		AATTGCTTTCCCCTTCAAAGA	0.378000													5	46					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55174698	55174698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55174698C>T	ENST00000414150.2	+	23	3957	c.3679C>T	c.(3679-3681)Ccc>Tcc	p.P1227S	MROH7_ENST00000421030.2_Missense_Mutation_p.P1227S|MROH7_ENST00000409996.1_Missense_Mutation_p.P795S|MROH7_ENST00000454855.2_Missense_Mutation_p.P745S					maestro heat-like repeat family member 7																		GTCCCTGGTCCCCTGCATGGA	0.527000													22	175					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918926	16918926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16918926G>A	ENST00000524140.2	+	18	4684	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	NWD1_ENST00000523826.1_Nonsense_Mutation_p.W1216*|NWD1_ENST00000552788.1_Nonsense_Mutation_p.W1422*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.W1380*|NWD1_ENST00000339803.6_Nonsense_Mutation_p.W1287*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.W1422*	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1422							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACGCAAGTGGAAATTCGAGA	0.567000													4	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062362	9062362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9062362C>T	ENST00000397910.4	-	3	25287	c.25084G>A	c.(25084-25086)Gga>Aga	p.G8362R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8364	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						GATTCATGTCCAGAAATGGAG	0.493000													4	77					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242492	87242492	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:87242492C>T	ENST00000297524.3	-	1	118	c.15G>A	c.(13-15)gaG>gaA	p.E5E	SLC7A13_ENST00000419776.2_Silent_p.E5E|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	5						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GCTGTATTTTCTCCCCTCTAT	0.358000													5	58					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585683	82585683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82585683C>T	ENST00000423517.2	-	5	4923	c.4586G>A	c.(4585-4587)cGa>cAa	p.R1529Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1529Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1460					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1460L(1)|p.R1529L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTAGTTCTTCGTTTTCTTTG	0.398000													7	23					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964876	196964876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:196964876C>T	ENST00000367414.5	+	5	765	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	CFHR5_ENST00000256785.4_Nonsense_Mutation_p.Q213*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	213	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCCACCTCCTCAACTCTCCAA	0.333000													8	49					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237103	96237103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:96237103C>T	ENST00000347108.3	-	20	2843	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	DZIP1_ENST00000361396.2_Missense_Mutation_p.G785E|DZIP1_ENST00000376829.2_Missense_Mutation_p.G804E|DZIP1_ENST00000361156.3_Missense_Mutation_p.G785E			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	804					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGATTTTTTTCCCAAAGATAT	0.428000													6	55					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232789	100232789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100232789C>T	ENST00000305046.8	-	7	920	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E245K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	285					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCACATGCCTCATGACAACAT	0.473000													11	138					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49071670	49071670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:49071670G>A	ENST00000376265.2	-	29	3567	c.3506C>T	c.(3505-3507)cCa>cTa	p.P1169L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1158L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1104L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1169					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACGGCGGAGTGGCTGGGCCTT	0.577000													6	23					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320976	46320976	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:46320976C>T	ENST00000465950.1	-	1	2772	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	SCAF11_ENST00000549162.1_Silent_p.K644K|SCAF11_ENST00000419565.2_Silent_p.K836K|SCAF11_ENST00000369367.3_Silent_p.K836K			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	836					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGACTCATTCTTAGGAGATG	0.483000													9	89					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863396	23863396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23863396C>T	ENST00000405093.3	-	21	2636	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	MYH6_ENST00000356287.3_Missense_Mutation_p.E856K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	856					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGAACTCTTCCTTCATGGTG	0.562000													9	152					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576414	158576414	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158576414C>T	ENST00000361284.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTACCTCTTCCTTTCCTTCC	0.517000													16	218					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490830	19490830	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19490830C>T	ENST00000396229.2	+	14	2996	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	TMC5_ENST00000564959.1_Silent_p.F432F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Silent_p.F390F|TMC5_ENST00000541464.1_Silent_p.F697F|TMC5_ENST00000381414.4_Silent_p.F749F|TMC5_ENST00000219821.5_Silent_p.F503F|TMC5_ENST00000542583.2_Silent_p.F749F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	749						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATTCCTTCCTGGGGGAGT	0.468000													14	133					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279599	50279599	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50279599A>C	ENST00000284509.6	-	10	878	c.737T>G	c.(736-738)gTt>gGt	p.V246G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V246G|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	246					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCAAAAATAACCATTCCAAA	0.468000													7	82					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079155	94079155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94079155C>T	ENST00000553484.1	+	28	3987	c.3833C>T	c.(3832-3834)cCt>cTt	p.P1278L	UNC79_ENST00000393151.2_Missense_Mutation_p.P1256L|UNC79_ENST00000555664.1_Missense_Mutation_p.P1256L|UNC79_ENST00000256339.4_Missense_Mutation_p.P1079L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1256						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						CAACAATCTCCTGAGAATGAC	0.483000													10	125					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761734	130761734	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:130761734G>A	ENST00000276708.4	-	13	2132	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	417						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCTTCTCCATGGAACAGGCCA	0.522000													5	65					0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087381	117087381	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:117087381C>T	ENST00000259396.8	+	5	567	c.489C>T	c.(487-489)ctC>ctT	p.L163L	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	163					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ACGAAGCTCTCGACTGCTTGC	0.572000													33	117					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169626019	169626019	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169626019G>A	ENST00000305747.6	+	10	1589		c.e10-1		CERS6_ENST00000392687.4_Splice_Site	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6							endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTACTCCACAGGTGTCCAAGG	0.488000													8	79					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:31323023G>A	ENST00000265071.2	+	12	2246	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D661N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGTTACAACGACGAAGGTGG	0.488000													5	61					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70886434	70886434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70886434C>T	ENST00000322773.4	+	42	2747	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L	COL19A1_ENST00000393344.1_Missense_Mutation_p.P504L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	882	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAGCAGGTCCCCCAGGAATA	0.408000													4	51					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59416968	59416968	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59416968T>A	ENST00000300146.9	-	14	1784	c.1700A>T	c.(1699-1701)gAc>gTc	p.D567V		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	567	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CCTTAAGTTGTCATACATGCT	0.428000													3	44					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1844594	1844594	+	Silent	SNP	C	C	T	rs141646890		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:1844594C>T	ENST00000518288.1	+	15	1774	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	ARHGEF10_ENST00000398564.1_Silent_p.P537P|ARHGEF10_ENST00000398560.1_Silent_p.P498P|ARHGEF10_ENST00000262112.6_Silent_p.P537P|ARHGEF10_ENST00000349830.3_Silent_p.P512P|ARHGEF10_ENST00000520359.1_Silent_p.P474P			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	537	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCACAAAGCCCGCTTTTCTTG	0.393000													10	62					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534673	152534673	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152534673G>C	ENST00000397345.3	-	33	3486	c.3284C>G	c.(3283-3285)gCt>gGt	p.A1095G	NEB_ENST00000604864.1_Missense_Mutation_p.A1095G|NEB_ENST00000172853.10_Missense_Mutation_p.A1095G|NEB_ENST00000427231.2_Missense_Mutation_p.A1095G|NEB_ENST00000603639.1_Missense_Mutation_p.A1095G|NEB_ENST00000409198.1_Missense_Mutation_p.A1095G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1095					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCCCTTTAGCCTTTTCATA	0.358000													4	25					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611571	61611571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61611571C>T	ENST00000583023.1	+	5	1011	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KCNH6_ENST00000580652.1_Missense_Mutation_p.P334S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P334S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P334S|KCNH6_ENST00000581784.1_Missense_Mutation_p.P334S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	334					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGTCAGCCACCCCCGCCGCAT	0.567000													5	127					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763659	77763659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77763659C>T	ENST00000521891.2	+	10	4950	c.4502C>T	c.(4501-4503)cCt>cTt	p.P1501L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1456L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1456L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1475L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1456						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGCAAGTCCTGTAGGAAGT	0.478000										HNSCC(33;0.089)			3	37					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299437	125299437	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:125299437C>T	ENST00000538699.1	-	2	551	c.471G>A	c.(469-471)ctG>ctA	p.L157L	DCAF12L2_ENST00000360028.2_Silent_p.L157L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	157										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGAGGGATTCAGCTCGATGG	0.687000													5	70					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52821064	52821064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52821064G>A	ENST00000273283.2	+	14	1861	c.1837G>A	c.(1837-1839)Ggc>Agc	p.G613S	ITIH1_ENST00000542827.1_Missense_Mutation_p.G613S|ITIH1_ENST00000540715.1_Missense_Mutation_p.G471S|ITIH1_ENST00000537050.1_Missense_Mutation_p.G325S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	613	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGCATCAGGGGCATGGCGGA	0.612000													16	127					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841484	100841484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100841484G>A	ENST00000223114.4	-	5	822	c.656C>T	c.(655-657)gCg>gTg	p.A219V	MOGAT3_ENST00000379423.3_Missense_Mutation_p.A219V|MOGAT3_ENST00000440203.2_Missense_Mutation_p.A219V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	219					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCCTCAGCGCCAGGCGCAC	0.642000													4	73					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271930	1271930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1271930C>T	ENST00000447027.1	+	31	13887	c.13829C>T	c.(13828-13830)tCc>tTc	p.S4610F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4607F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4607	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCCTCCTCCAGCCCAGGG	0.652000													10	111					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844743	147844743	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:147844743C>T	ENST00000361727.3	+	17	3231	c.2715C>T	c.(2713-2715)atC>atT	p.I905I	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	905	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCAGCAGATCCGCAAGGCCC	0.567000										HNSCC(39;0.1)			5	102					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718715	80718715	+	Silent	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:80718715G>C	ENST00000299564.8	-	2	491	c.336C>G	c.(334-336)ccC>ccG	p.P112P	CDYL2_ENST00000562812.1_Silent_p.P112P|CDYL2_ENST00000566173.1_Silent_p.P112P|CDYL2_ENST00000563890.1_Silent_p.P112P|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	112						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTGGCCAGGGGAGGGTTAA	0.547000													7	50					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21924006	21924006	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:21924006A>C	ENST00000328843.6	+	77	12537	c.12506A>C	c.(12505-12507)gAa>gCa	p.E4169A	DNAH11_ENST00000409508.3_Missense_Mutation_p.E4162A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4169					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTATTTAGAAGAATTCATG	0.358000									Kartagener syndrome				6	46					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172397	47172397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47172397G>A	ENST00000447411.1	-	10	1086	c.880C>T	c.(880-882)Cct>Tct	p.P294S	SLC38A4_ENST00000266579.4_Missense_Mutation_p.P294S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	294					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGCCCTGCAGGATTGCGGTGG	0.453000													5	63					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001473	11001473	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11001473C>T	ENST00000324288.8	+	11	2257	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	708	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCTGGCCTTCCCCAGCTTCC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								11	91					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33451266	33451266	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:33451266C>T	ENST00000256261.4	-	3	739		c.e3-1		DUSP26_ENST00000523956.1_Splice_Site	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)							Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGCCATGTCCCTGCATTGAGT	0.567000													3	57					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124805822	124805822	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124805822C>T	ENST00000298251.4	-	1	486	c.81G>A	c.(79-81)caG>caA	p.Q27Q		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	27					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCCTACCTGTCTGGATCAGAA	0.582000													4	21					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439527	150439527	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150439527C>T	ENST00000358647.3	+	3	667	c.300C>T	c.(298-300)atC>atT	p.I100I	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAAGAACATCGGGGACTGCT	0.582000													9	106					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723871	99723871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:99723871C>T	ENST00000345514.2	-	2	630	c.364G>A	c.(364-366)Gac>Aac	p.D122N	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.D122N	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	516						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)		TCATCTTCGTCGGGGGTGACT	0.602000			T	TLX3	T-ALL								13	130					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476711	140476711	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140476711G>A	ENST00000194155.4	+	1	2485	c.2337G>A	c.(2335-2337)caG>caA	p.Q779Q		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		779					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTTGCTCAGGGTGCAGAGA	0.478000													10	120					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57828183G>A	ENST00000371030.2	+	4	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1393						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGGACAAACGAACTGTGAAG	0.468000													5	112					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627372	38627372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38627372G>A	ENST00000413689.1	-	16	2790	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	SCN5A_ENST00000451551.2_Missense_Mutation_p.S866L|SCN5A_ENST00000414099.2_Missense_Mutation_p.S866L|SCN5A_ENST00000425664.1_Missense_Mutation_p.S866L|SCN5A_ENST00000450102.2_Missense_Mutation_p.S866L|SCN5A_ENST00000443581.1_Missense_Mutation_p.S866L|SCN5A_ENST00000449557.2_Missense_Mutation_p.S866L|SCN5A_ENST00000455624.2_Missense_Mutation_p.S866L|SCN5A_ENST00000423572.2_Missense_Mutation_p.S866L|SCN5A_ENST00000333535.4_Missense_Mutation_p.S866L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	866					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTCAGCTCCGAGTAGTTCTT	0.567000													22	175					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018545	9018545	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9018545C>T	ENST00000397910.4	-	24	37832	c.37629G>A	c.(37627-37629)ctG>ctA	p.L12543L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12545	SEA 4.				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						TGAACAGCACCAGGAGAGGGC	0.463000													16	173					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104060088	104060088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:104060088C>T	ENST00000388887.2	+	19	2246	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	681					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S681F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGAGCTGTTCTCTGGTGTAC	0.562000													6	113					0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147695212	147695212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:147695212G>A	ENST00000274565.4	+	4	284	c.223G>A	c.(223-225)Gga>Aga	p.G75R	RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Missense_Mutation_p.G49R	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	75	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTAATGGAAGAGTTCA	0.373000													6	44					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509434	109509434	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:109509434C>T	ENST00000257548.5	+	5	591	c.498C>T	c.(496-498)ttC>ttT	p.F166F	USP30_ENST00000392784.2_Silent_p.F135F	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	166					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ACGAATTATTCCATGTCATTA	0.478000													10	105					0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139236477	139236477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:139236477C>T	ENST00000232219.2	-	4	696	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	134						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CCTCACTGCACCTTCTTGAAT	0.522000													22	181					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964509	94964509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94964509G>A	ENST00000341228.2	-	3	1021	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P76S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	76					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ATGCTCAAGGGGGATAGGAAG	0.532000													18	84					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56171324	56171324	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:56171324A>C	ENST00000361673.3	-	11	6299	c.6086T>G	c.(6085-6087)gTg>gGg	p.V2029G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2029	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCCTCCTCCACTGTAGCATA	0.448000													23	200					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462101	5462101	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5462101A>G	ENST00000380211.1	-	1	643	c.644T>C	c.(643-645)tTc>tCc	p.F215S	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCAGGATGAAAGTTGAGTC	0.458000													3	11					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940116	68940116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68940116G>A	ENST00000433211.1	-	7	1180	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336C|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336C|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	336					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R336C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAGCCTGGCGAATGGCGTTG	0.512000													6	48					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43898795	43898795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43898795C>T	ENST00000314537.5	+	4	541	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CRHR1_ENST00000352855.5_Missense_Mutation_p.L66F|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Missense_Mutation_p.L106F|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000577353.1_Missense_Mutation_p.L106F	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	106					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCAGGAGATCCTCAATGAGGA	0.597000													11	99					0	0	1	0	0
GAR1	54433	broad.mit.edu	37	4	110745161	110745161	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:110745161C>T	ENST00000226796.6	+	6	876	c.612C>T	c.(610-612)ttC>ttT	p.F204F	GAR1_ENST00000394631.3_Silent_p.F204F	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	204	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GTGGGGGCTTCAGAGGAGGAA	0.313000													8	140					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269359	37269359	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:37269359C>T	ENST00000315190.3	+	2	590	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	48						integral to membrane											TGTCCATATTCCTCAGCCTTT	0.478000													5	111					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749192	22749192	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:22749192G>A	ENST00000511446.1	+	0	563				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCACTTTGGGACTGGAGGT	0.438000													7	90					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422257	47422257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47422257C>T	ENST00000404338.3	+	1	325	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	109					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAACCTCATCGAAGCACGGC	0.498000													11	134					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112522872	112522872	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:112522872T>A	ENST00000230538.7	-	5	837	c.440A>T	c.(439-441)tAt>tTt	p.Y147F	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.Y147F|LAMA4_ENST00000424408.2_Missense_Mutation_p.Y147F|LAMA4_ENST00000389463.4_Missense_Mutation_p.Y147F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	147	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTTTTCCTATAGCAGGATTC	0.358000													17	234					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472403	23472403	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:23472403G>A	ENST00000246012.1	+	2	456	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	33						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGTGCTGAGGAAATTAAAAC	0.527000													12	135					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592000													4	71					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378624	31378624	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31378624G>A	ENST00000297142.3	-	2	581	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	87					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCCAATCGCAGCTTTGTTGTC	0.488000													22	225					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926712	22926712	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:22926712C>T	ENST00000261374.3	+	2	1367	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	311						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCAAAGGATTCCCTTGCTTGA	0.493000													25	198					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13563791	13563791	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:13563791G>A	ENST00000360228.5	-	3	437	c.438C>T	c.(436-438)ttC>ttT	p.F146F	CACNA1A_ENST00000573710.2_Silent_p.F146F	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	146					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)	TTCCAGCCTCGAAACAAAAAA	0.483000													4	74					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145051503	145051503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:145051503G>A	ENST00000367545.3	+	53	7820	c.7820G>A	c.(7819-7821)cGg>cAg	p.R2607Q	UTRN_ENST00000367526.4_Missense_Mutation_p.R162Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2607					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGAGACGGGAGTTAAAG	0.458000													9	93					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329633	74329633	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:74329633C>T	ENST00000263681.2	+	6	573	c.444C>T	c.(442-444)tcC>tcT	p.S148S	POLD3_ENST00000532497.1_Silent_p.S42S|POLD3_ENST00000527458.1_Silent_p.S109S	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	148					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	p.S148S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCTGAATCCTCTTCGTCTT	0.453000													11	165					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18669087	18669087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:18669087G>A	ENST00000406451.3	+	7	920	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000432645.2_Missense_Mutation_p.R257Q|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.R229Q|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000405010.3_Missense_Mutation_p.R257Q|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000441542.2_Missense_Mutation_p.R260Q|HDAC9_ENST00000406072.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	257	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCAAGAAGCGAATGTTTGAG	0.433000													6	35					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826438	95826438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:95826438G>A	ENST00000524717.1	-	2	2041	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	253					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCATTGCCAGGAGAATGTGTA	0.478000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								5	55					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50832478	50832478	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50832478C>T	ENST00000359139.3	+	3	535	c.141C>T	c.(139-141)ttC>ttT	p.F47F	PPP6R2_ENST00000395741.3_Silent_p.F47F|PPP6R2_ENST00000395744.3_Silent_p.F47F|PPP6R2_ENST00000216061.5_Silent_p.F47F	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	47						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCTGGACTTCCTGTGCAGGC	0.542000													26	274					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714906	91714906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:91714906C>T	ENST00000359028.2	+	36	9167	c.8942C>T	c.(8941-8943)tCa>tTa	p.S2981L	AKAP9_ENST00000356239.3_Missense_Mutation_p.S2977L|AKAP9_ENST00000358100.2_Missense_Mutation_p.S2927L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2981					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGCAGGTTTCAGAACCTTGG	0.428000			T	BRAF	papillary thyroid								5	42					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141526904	141526904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141526904G>A	ENST00000389484.3	-	35	6607	c.5636C>T	c.(5635-5637)tCa>tTa	p.S1879L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1879					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)		CATAAGAAATGATTCTATACC	0.363000										TSP Lung(27;0.18)			5	50					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564685	22564685	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22564685G>A	ENST00000390452.2	+	0	154																											CTGCCTGTATGAAACAAGTTG	0.438000													14	126					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480786	140480786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140480786C>T	ENST00000231130.2	+	1	553	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		185	Cadherin 2.				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)			CACTCGCAGTCGTAGGGACGG	0.542000													14	98					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035923	95035923	+	Silent	SNP	G	G	A	rs139990252		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95035923G>A	ENST00000557004.1	+	5	1696	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	SERPINA4_ENST00000298841.5_Silent_p.T425T|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.T425T			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	425					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.T425T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGACCCCACGAAACCATAGC	0.577000													8	62					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103988233	103988233	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:103988233G>A	ENST00000388887.2	+	3	480	c.276G>A	c.(274-276)agG>agA	p.R92R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	92					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATATTTGTAGGAAGGACTATC	0.507000													10	133					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7531995	7531995	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7531995G>A	ENST00000359920.6	+	15	2689	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	CTD-2207O23.3_ENST00000593531.1_Silent_p.*770*|ARHGEF18_ENST00000319670.9_Silent_p.L654L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	812					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGCTGCTCCTGAACCTTCAGG	0.667000													12	146					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50555448C>T	ENST00000267845.3	-	2	590	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_ENST00000543581.1_Missense_Mutation_p.R63Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000													23	316					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785393	12785393	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12785393G>A	ENST00000332530.3	+	3	499	c.273G>A	c.(271-273)caG>caA	p.Q91Q	AADACL3_ENST00000359318.5_Silent_p.Q161Q	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	161							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGCTCAGATCCTGATCT	0.537000													32	154					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032949	16032949	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16032949G>T	ENST00000326742.7	-	8	1014	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	CYP4F11_ENST00000402119.3_Missense_Mutation_p.S338Y|CYP4F11_ENST00000248041.7_Missense_Mutation_p.S338Y			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	338					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TAGGACCCAGGAGAGACCACT	0.542000													4	70					0.150653	0.150978	1	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89417072	89417072	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:89417072C>T	ENST00000490686.1	-	0	138																											ACTCTGTCTCCTACAGATGCA	0.478000													24	74					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49236546	49236546	+	Silent	SNP	G	G	A	rs112022991	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:49236546G>A	ENST00000327979.2	-	3	645	c.234C>T	c.(232-234)ttC>ttT	p.F78F	FAM65C_ENST00000045083.2_Silent_p.F78F|FAM65C_ENST00000535356.1_Silent_p.F82F			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	78										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAATGCTTCGAAGATCTTCT	0.552000													12	89					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803390	185803390	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:185803390C>T	ENST00000302277.6	+	4	3861	c.3267C>T	c.(3265-3267)tcC>tcT	p.S1089S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1089						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCAGCAGTCCTTATGTTCTA	0.542000													9	93					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24180929	24180929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24180929G>A	ENST00000374479.3	-	5	897	c.890C>T	c.(889-891)aCc>aTc	p.T297I		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	297					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTCAATGCTGGTGCACATCTC	0.448000													36	217					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420374	105420374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105420374C>T	ENST00000333244.5	-	7	1533	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	472						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGCCTCCTTCGGTTGTGTCT	0.527000													13	66					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24837187	24837187	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:24837187C>T	ENST00000337539.7	+	3	1428	c.969C>T	c.(967-969)gtC>gtT	p.V323V	ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	323					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GTGCCCGGGTCTTGGCAGCTC	0.642000													8	34					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633754	70633754	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:70633754C>T	ENST00000381269.2	-	2	2139	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	SLC8A3_ENST00000528359.1_Silent_p.K462K|SLC8A3_ENST00000534137.1_Silent_p.K462K|SLC8A3_ENST00000356921.2_Silent_p.K462K|SLC8A3_ENST00000357887.3_Silent_p.K462K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	462	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGGAGAACTCCTTCTGGGTCT	0.502000													19	183					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995068	18995068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18995068G>A	ENST00000427170.2	-	3	489	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	CERS1_ENST00000429504.2_Missense_Mutation_p.P140S|CERS1_ENST00000542296.2_Missense_Mutation_p.P42S|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	140	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						GCCATGCCCGGCGTCCAGTCT	0.617000													3	23					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321117	2321117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2321117C>T	ENST00000381458.5	+	13	2035	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	658					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTCCCGGGTCCGTTTTGATAT	0.602000													17	133					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55735698C>T	ENST00000312345.2	-	1	292	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383000													9	80					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52240815	52240815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52240815C>T	ENST00000282588.6	+	27	3786	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1110					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)				GGGAGAACTTCGGAGTGAAAA	0.323000													8	199					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114172997	114172997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114172997G>A	ENST00000393081.1	+	12	1322	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	ACSL5_ENST00000369410.3_Missense_Mutation_p.D121N|ACSL5_ENST00000354273.4_Missense_Mutation_p.D339N|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.D339N|ACSL5_ENST00000356116.1_Missense_Mutation_p.D395N|ACSL5_ENST00000354655.4_Missense_Mutation_p.D339N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	339					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCTGGCTGACGACATGAAGAC	0.478000													20	145					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269153	123269153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123269153C>T	ENST00000451558.1	+	12	1626	c.1105C>T	c.(1105-1107)Ctt>Ttt	p.L369F	ASB15_ENST00000275699.3_Missense_Mutation_p.L369F|ASB15_ENST00000540573.1_Missense_Mutation_p.L369F|ASB15_ENST00000451215.1_Missense_Mutation_p.L369F|ASB15_ENST00000434204.1_Missense_Mutation_p.L369F			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	369					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CACAGAAGTCCTTCTGGCTGC	0.468000													6	97					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028415	142028415	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142028415C>T	ENST00000390353.2	+	0	206																											AACCATAACTCCATGTACTGG	0.507000													10	222					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248730	3248730	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3248730G>A	ENST00000217939.6	-	3	427	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	91						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGATGCTTGGGATCTCATTGC	0.438000													6	34					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377861	55377861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55377861G>A	ENST00000326321.3	+	8	1175	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R381K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R364K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	381					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCGGGGGACAGAACAGTGAAT	0.542000													18	136					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922370	104922370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:104922370G>A	ENST00000507740.1	+	3	1293	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	RIMS2_ENST00000436393.2_Missense_Mutation_p.D323N|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.D545N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	612					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGAGACATGGATTACAACTG	0.408000										HNSCC(12;0.0054)			17	145					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664719	160664719	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:160664719G>A	ENST00000366953.3	-	7	1422	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	388					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGGCAGCTGGGAATTCAACCA	0.552000													7	92					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449756	61449756	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61449756C>T	ENST00000398019.2	+	2	475	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SERPINB7_ENST00000546027.1_Silent_p.S50S|SERPINB7_ENST00000336429.2_Silent_p.S50S|SERPINB7_ENST00000540675.1_Silent_p.S50S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	50					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAGATGACTCCCTCTCTCAGA	0.478000													10	91					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53865470	53865470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53865470C>T	ENST00000603815.1	+	14	1290	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	PCBP2_ENST00000455667.3_Missense_Mutation_p.R267C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R284C|PCBP2_ENST00000439930.3_Missense_Mutation_p.R314C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R267C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R270C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R284C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R315C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R280C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R311C|PCBP2_ENST00000552819.1_Missense_Mutation_p.R271C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R310C	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	314	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAATGAGATCCGTCAGATGTC	0.498000													4	35					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431749	56431749	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56431749G>A	ENST00000302969.2	+	1	612	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ACATCAGTGAGATCTTGCTCT	0.443000													13	91					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204981968	204981968	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:204981968G>A	ENST00000367172.4	+	31	4114	c.3786G>A	c.(3784-3786)aaG>aaA	p.K1262K	NFASC_ENST00000360049.4_Silent_p.K1084K|NFASC_ENST00000513543.1_Silent_p.K1084K|NFASC_ENST00000404907.1_Silent_p.K1089K|NFASC_ENST00000338515.6_Silent_p.K1172K|NFASC_ENST00000367171.4_Silent_p.K1247K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Silent_p.K1072K|NFASC_ENST00000401399.1_Silent_p.K1155K|NFASC_ENST00000367170.4_Silent_p.K1183K|NFASC_ENST00000539706.1_Silent_p.K1089K|NFASC_ENST00000367169.4_Silent_p.K986K|NFASC_ENST00000338586.6_Silent_p.K1139K|NFASC_ENST00000339876.6_Silent_p.K1155K			O94856	NFASC_HUMAN	neurofascin	1262					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGACCCCAAGGAAGAGGATG	0.542000													4	103					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173369	126173369	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126173369G>A	ENST00000339582.2	-	9	2875	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	GRM8_ENST00000444921.2_Silent_p.F689F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.F689F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	689					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGGACTAATGAACTTGGGCG	0.502000										HNSCC(24;0.065)			4	75					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307919	46307919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46307919G>A	ENST00000221538.3	-	3	1386	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P415L|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P151L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	415						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTCCTCCTTGGGGATCACGGG	0.662000													11	66					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24358083C>T	ENST00000005284.3	+	2	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAAGAAAATCGATCACTTCC	0.582000													13	71					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725382	87725382	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:87725382C>T	ENST00000305344.4	+	2	1033	c.330C>T	c.(328-330)atC>atT	p.I110I	HTR1E_ENST00000369584.1_Silent_p.I110I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	110					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCTGCTCCATCCTCCACCTCT	0.562000													12	100					0	0	1	0	0
C5orf64	285668	broad.mit.edu	37	5	60982870	60982870	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:60982870G>A	ENST00000505642.1	+	3	273	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RP11-2O17.2_ENST00000513386.1_RNA|RP11-2O17.2_ENST00000507264.1_RNA|C5orf64_ENST00000313303.7_Silent_p.S66S|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	66						extracellular region				breast(1)	1						CAATCAAATCGAGATCACATC	0.418000													4	64					0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149777980	149777980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:149777980G>A	ENST00000389942.5	-	4	749	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.R168C|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.R168C|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.R168C			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	168						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGCACCTTGCGGGACGGCGTG	0.682000													7	89					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76417031	76417031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:76417031C>T	ENST00000357063.3	+	26	5492	c.4232C>T	c.(4231-4233)tCa>tTa	p.S1411L	LMO7_ENST00000321797.8_Missense_Mutation_p.S1126L|LMO7_ENST00000341547.4_Missense_Mutation_p.S1077L|LMO7_ENST00000377534.3_Missense_Mutation_p.S1411L|LMO7_ENST00000465261.2_Missense_Mutation_p.S1126L|LMO7_ENST00000526202.1_Missense_Mutation_p.S1003L			Q8WWI1	LMO7_HUMAN	LIM domain 7	1411						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAGCATCTTCAGGTTTTCTT	0.353000													6	70					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49201459	49201459	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49201459T>G	ENST00000321895.6	-	2	289	c.183A>C	c.(181-183)caA>caC	p.Q61H		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	61										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATGGTAGGTTGGAAGCCAT	0.552000													8	82					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73594990	73594990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:73594990C>T	ENST00000339362.5	+	30	4786	c.4339C>T	c.(4339-4341)Cac>Tac	p.H1447Y	NEO1_ENST00000558964.1_Missense_Mutation_p.H1436Y|NEO1_ENST00000560262.1_Missense_Mutation_p.H1394Y|NEO1_ENST00000261908.6_Missense_Mutation_p.H1447Y			Q92859	NEO1_HUMAN	neogenin 1	1447					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGAGATGGCCCACCTGGAAGG	0.493000													4	41					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38609985	38609985	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:38609985C>T	ENST00000222345.6	+	9	2840	c.2331C>T	c.(2329-2331)ggC>ggT	p.G777G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTTTCGGCCCCCCCATCC	0.537000													7	152					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30601897	30601897	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:30601897T>G	ENST00000448418.2	-	2	384	c.24A>C	c.(22-24)caA>caC	p.Q8H	MPPED2_ENST00000358117.5_Missense_Mutation_p.Q8H	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	8					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TAACTTTGCCTTGAGAAGGAA	0.493000													11	100					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400800	11400800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:11400800C>T	ENST00000227756.4	-	4	1018	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GTCAGCTTCTCCTTCAGTTCC	0.542000													8	64					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150934798	150934798	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150934798G>A	ENST00000035307.2	+	4	2863	c.1350G>A	c.(1348-1350)ttG>ttA	p.L450L	CHPF2_ENST00000495645.1_Silent_p.L442L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	450						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ACCTGCTGTTGGAATGTGTGA	0.647000													9	116					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125320882	125320882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:125320882G>A	ENST00000431078.1	+	11	2099	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	579	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G579S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGTTACACTGGTGCCACCTG	0.458000													3	7					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546092	138546092	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138546092G>A	ENST00000440172.1	-	16	5088	c.5040C>T	c.(5038-5040)atC>atT	p.I1680I	KIAA1549_ENST00000422774.1_Silent_p.I1680I|KIAA1549_ENST00000242365.4_Silent_p.I1630I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1680						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGCCTCCTCGATGGACGGCT	0.677000			O	BRAF	pilocytic astrocytoma								9	77					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057740	158057740	+	Nonsense_Mutation	SNP	G	G	A	rs62636642		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:158057740G>A	ENST00000264428.4	+	5	687	c.417G>A	c.(415-417)tgG>tgA	p.W139*	GLRB_ENST00000509282.1_Nonsense_Mutation_p.W139*|GLRB_ENST00000541722.1_Nonsense_Mutation_p.W139*|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	139					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGTGTTTATGGAAACCTGATT	0.408000													6	64					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971130	28971130	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28971130G>A	ENST00000359747.4	+	7	803	c.774G>A	c.(772-774)aaG>aaA	p.K258K	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.K258K|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	258	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTAGAATCAAGGTTTTAGACG	0.393000													3	48					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80049263	80049263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:80049263G>A	ENST00000306749.2	-	9	1545	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	443	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGGCTGTGCCGGAGGCCCTGC	0.716000													9	15					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55734085	55734085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:55734085C>T	ENST00000379906.2	+	12	1880	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	SLC6A2_ENST00000219833.8_Missense_Mutation_p.P542L|SLC6A2_ENST00000568943.1_Missense_Mutation_p.P542L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.P437L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.P497L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.P542L|SLC6A2_ENST00000414754.3_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	542					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AACTTCAAGCCACTCACCTAC	0.542000													10	113					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180424352	180424352	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:180424352C>T	ENST00000342868.6	+	3	721	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	179	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTTCAGACTCCAGAGCAAATG	0.512000													4	38					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230656937	230656937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:230656937C>A	ENST00000283943.5	-	27	4100	c.3922G>T	c.(3922-3924)Gga>Tga	p.G1308*	TRIP12_ENST00000389045.3_Nonsense_Mutation_p.G1038*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.G1356*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTACTCTTCCATACCCTGAA	0.353000													6	100					2.17888e-05	2.19669e-05	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56408980	56408980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56408980C>T	ENST00000544374.1	-	1	967	c.939G>A	c.(937-939)tgG>tgA	p.W313*	OR5AP2_ENST00000302981.1_Nonsense_Mutation_p.W312*			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGATGTGTTTCCATAAGATCT	0.328000													4	74					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43912898	43912898	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43912898A>T	ENST00000291536.3	-	3	411	c.244T>A	c.(244-246)Ttt>Att	p.F82I	RSPH1_ENST00000398352.3_Missense_Mutation_p.F44I	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	82					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GGATATATAAAAGTGCCTTGA	0.328000													10	128					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903788	129903788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:129903788G>A	ENST00000368654.3	-	13	6691	c.6316C>T	c.(6316-6318)Cca>Tca	p.P2106S	MKI67_ENST00000368653.3_Missense_Mutation_p.P1746S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2106	16 X 122 AA approximate repeats.				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)				TCTGGTGGTGGAGATTTGCAG	0.493000													33	352					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	96997851	96997851	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96997851A>C	ENST00000329399.6	-	7	929	c.821T>G	c.(820-822)cTg>cGg	p.L274R	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	274	LIM zinc-binding.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACGGTCCCGCAGCTTCACAAA	0.547000													3	32					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553242	140553242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140553242G>A	ENST00000231137.3	+	1	1000	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		276	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAATGGGGAAATAGCCTA	0.458000													7	114					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914696	39914696	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39914696G>A	ENST00000393931.3	-	10	1846	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	JUP_ENST00000310706.5_Silent_p.N576N|JUP_ENST00000393930.1_Silent_p.N576N|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	576					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCTCCATGCGGTTCATGGGGT	0.617000													15	121					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655418	142655418	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142655418A>T	ENST00000355265.2	-	5	972	c.498T>A	c.(496-498)acT>acA	p.T166T	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	166					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAGGGGACCAGTCCCTGCAG	0.483000													23	94					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148950994	148950994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:148950994C>T	ENST00000335870.2	+	5	1104	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GATCACCTTCCGCTATAAGCA	0.587000													5	65					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101829544	101829544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:101829544G>A	ENST00000370418.3	-	3	754	c.503C>T	c.(502-504)aCc>aTc	p.T168I		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	168	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTAGATATAGGTATTGAGATC	0.468000													13	89					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20172021	20172021	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20172021T>C	ENST00000245957.5	+	15	1624	c.1548T>C	c.(1546-1548)gtT>gtC	p.V516V	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	516										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGCTGAAGTTGCAGAACAAA	0.338000													12	104					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260594	35260594	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35260594G>A	ENST00000342280.4	+	2	868	c.780G>A	c.(778-780)acG>acA	p.T260T		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	260					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCCTTACACGGACCAGGTCT	0.652000													3	30					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343480	72343480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:72343480C>T	ENST00000299687.5	+	1	505	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	ZNF407_ENST00000309902.6_Missense_Mutation_p.P169S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P169S|ZNF407_ENST00000577538.1_Missense_Mutation_p.P169S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATCTCCTTTCCCCCCGAAAGA	0.393000													9	84					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341758	179341758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:179341758C>T	ENST00000493866.1	+	4	369	c.344C>T	c.(343-345)cCc>cTc	p.P115L	NDUFB5_ENST00000259037.3_Missense_Mutation_p.P167L|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.P155L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	167					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GGAGATGGACCCTGGTATTAC	0.368000													9	121					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449716	138449716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138449716C>T	ENST00000344876.4	-	3	3042	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	PCDH18_ENST00000412923.2_Missense_Mutation_p.D885N|PCDH18_ENST00000507846.1_Missense_Mutation_p.D665N|PCDH18_ENST00000511115.1_Missense_Mutation_p.D66N|PCDH18_ENST00000510305.1_Missense_Mutation_p.D97N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	886					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGCCCCAAATCATAATCACTG	0.448000													15	261					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811453	44811453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:44811453C>T	ENST00000260327.4	+	11	1762	c.1199C>T	c.(1198-1200)aCt>aTt	p.T400I	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.T400I|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.T328I|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.T328I	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	400	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CTTTCAAAAACTATAATAATT	0.333000													11	67					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73680366	73680366	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:73680366C>T	ENST00000339764.1	+	7	1547	c.797_splice	c.e7+1	p.H266_splice	DNAJB13_ENST00000543947.1_Splice_Site_p.H91_splice|DNAJB13_ENST00000537753.1_Splice_Site_p.H91_splice|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	266					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TGACATCATCCAGTGAGTCCA	0.567000													12	92					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913665	28913665	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28913665C>T	ENST00000257192.4	+	7	1010	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	266	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGATAATATCCCTTACATGG	0.393000													6	65					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100084413	100084413	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:100084413A>T	ENST00000284320.5	-	12	2270	c.1822T>A	c.(1822-1824)Tta>Ata	p.L608I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	608					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTGTTTTATAATGTTGGTGGT	0.448000													20	163					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587405	101587405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101587405C>T	ENST00000536262.2	-	5	1248	c.690G>A	c.(688-690)tgG>tgA	p.W230*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	230					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACACTTACTTCCAGAAATTTA	0.338000													12	134					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984965	7984965	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7984965C>T	ENST00000328600.2	-	1	239	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	26	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTTAACTTCTTGAAATCGT	0.572000													9	100					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82388008	82388008	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82388008C>T	ENST00000333891.8	-	25	15649	c.15312G>A	c.(15310-15312)ggG>ggA	p.G5104G		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5027					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						TCATAAACTTCCCTCCATTGG	0.323000													4	38					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274432	233274432	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:233274432C>T	ENST00000295453.3	+	11	1501	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	483					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCATGGCCTTCGCCGCCTGCC	0.751000													3	21					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756722	139756722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139756722C>T	ENST00000263549.3	-	3	1567	c.694G>A	c.(694-696)Gac>Aac	p.D232N		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	232						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTTGATGTCATGTGCATTT	0.498000													8	123					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17660448	17660448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17660448C>T	ENST00000375448.4	+	3	310	c.284C>T	c.(283-285)tCa>tTa	p.S95L	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Missense_Mutation_p.S95L	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	95					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GTTCAGATTTCATACTACGGA	0.532000													9	61					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024443	55024443	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:55024443T>C	ENST00000324000.3	+	3	2636	c.602T>C	c.(601-603)gTt>gCt	p.V201A		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	201					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAAAGAGATGTTGGAAGAAAA	0.423000													10	103					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197757952	197757952	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:197757952C>T	ENST00000354764.3	-	8	1059	c.945G>A	c.(943-945)aaG>aaA	p.K315K	PGAP1_ENST00000409475.1_Silent_p.K315K|PGAP1_ENST00000409188.1_Silent_p.K273K|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	315					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACAGTTTCTTCTTGGAATTTT	0.313000													3	39					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691110	121691110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:121691110G>A	ENST00000324774.5	-	10	1901	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	CAMKK2_ENST00000545538.1_Missense_Mutation_p.S145L|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S358L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S358L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S358L|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S358L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S358L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S358L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S358L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S358L|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S358L	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	358	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGAGAGCGACTCGGGTGC	0.562000													5	78					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349697	150349697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150349697C>T	ENST00000218316.3	+	2	1711	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	548	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGAGATCCCTGCCATTGC	0.647000													12	49					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581470	232581470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:232581470G>A	ENST00000366630.1	-	10	3516	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1053L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P127L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1053					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATACTCGCAGGGGGTGCCCTC	0.597000													9	183					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793142	21793142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21793142G>A	ENST00000206660.6	+	14	2128	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E710K|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E672K|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E69K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	710					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATGGCCAGTGAACACAGCAC	0.512000													11	146					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32843591	32843591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32843591G>A	ENST00000341071.7	-	8	718	c.707C>T	c.(706-708)cCc>cTc	p.P236L	BSDC1_ENST00000449308.1_Missense_Mutation_p.P219L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P236L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P163L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P124L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P158L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P219L			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	219							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCCCAGCCGGGCTCTTCAGA	0.647000													13	57					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086776	39086776	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:39086776C>T	ENST00000400482.3	-	3	1273	c.684G>A	c.(682-684)agG>agA	p.R228R	KCNJ6_ENST00000288309.6_Silent_p.R228R	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	228					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGTGGGAATTCCTAAGGTCCC	0.532000													7	75					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119568089	119568089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:119568089C>T	ENST00000313400.4	-	13	2318	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	ASTN2_ENST00000373996.3_Missense_Mutation_p.E736K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E689K|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	740	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTTTGTACTCCTCCACGCAA	0.488000													23	90					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471453	146471453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:146471453C>T	ENST00000361727.3	+	2	704	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	63	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCCGGCTATGCCAAGATAAAC	0.368000										HNSCC(39;0.1)			6	47					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916461	42916461	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:42916461G>T	ENST00000316161.4	-	1	1172	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	CYP8B1_ENST00000437102.1_Missense_Mutation_p.S283Y|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	283					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTTCCCCTGGGAGGCCCAGAG	0.582000													5	23					0.217242	0.217502	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059176	248059176	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248059176C>T	ENST00000537741.1	+	3	545	c.288C>T	c.(286-288)ggC>ggT	p.G96G	OR2W3_ENST00000360358.3_Silent_p.G96G			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTACATGGGCTGTGCCATCC	0.572000													6	104					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723828	58723828	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58723828C>T	ENST00000326804.4	+	9	1737	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	ZNF274_ENST00000345813.3_Silent_p.S394S|ZNF274_ENST00000424679.2_Silent_p.S321S|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	427					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACCCTGAGTCCCAGGCAAACA	0.458000													4	90					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61994536	61994536	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61994536G>A	ENST00000280772.1	-	8	998	c.807C>T	c.(805-807)atC>atT	p.I269I	ANK3_ENST00000373827.2_Silent_p.I263I|ANK3_ENST00000503366.1_Silent_p.I252I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	269					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAAAGGAGTGATGTCATTCT	0.393000													3	37					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686592	100686592	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100686592G>A	ENST00000306151.4	+	3	11959	c.11895G>A	c.(11893-11895)gtG>gtA	p.V3965V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3965						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)					CTACCCCTGTGATAACTTCCA	0.448000													9	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436520	179436520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179436520C>T	ENST00000589042.1	-	326	74563	c.74339G>A	c.(74338-74340)cGa>cAa	p.R24780Q	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23139Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15715Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15907Q|TTN_ENST00000359218.5_Missense_Mutation_p.R15840Q|TTN_ENST00000342992.6_Missense_Mutation_p.R22212Q|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23139	Fibronectin type-III 80.						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)			AACATCTTCTCGGCAGGCGTC	0.418000													12	86					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199694	4199694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:4199694C>T	ENST00000296358.4	-	5	891	c.867G>A	c.(865-867)tgG>tgA	p.W289*		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	289					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)		CGATGTTCTTCCACAGGACGT	0.562000													4	101					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169122867	169122867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:169122867G>A	ENST00000256935.8	+	10	984	c.904G>A	c.(904-906)Gtc>Atc	p.V302I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	302					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATAGTCCGGGTCGGCAAGAT	0.473000													6	63					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838073	74838073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:74838073C>T	ENST00000358399.3	+	7	737	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GDA_ENST00000238018.4_Missense_Mutation_p.S215F|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.S141F|GDA_ENST00000376989.3_Intron|GDA_ENST00000376986.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	215					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCACGTTTTTCCCTCTCCTGC	0.393000													8	102					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39128403	39128403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:39128403C>T	ENST00000379907.4	+	20	2298	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	ADAM32_ENST00000437682.2_Missense_Mutation_p.S625L|ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000524303.1_3'UTR	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	724					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATCTAAATCGGAAGGTAGC	0.289000													3	24					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988929	66988929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:66988929C>T	ENST00000276570.5	+	4	441	c.154C>T	c.(154-156)Cca>Tca	p.P52S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	52	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGACAAGAATCCAGATGATCC	0.383000													7	98					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656780	150656780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150656780C>T	ENST00000392968.2	-	1	1184	c.64G>A	c.(64-66)Gag>Aag	p.E22K	KCNH2_ENST00000430723.3_Missense_Mutation_p.E118K|KCNH2_ENST00000262186.5_Missense_Mutation_p.E118K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	118					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCCCATCCTCGTTCTTCACG	0.597000													14	101					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4800889	4800889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4800889C>T	ENST00000328914.4	+	8	1891	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	FOXK1_ENST00000446823.1_Missense_Mutation_p.P468S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	631					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCATGCGGTTCCCACGAACAG	0.637000													4	48					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891572	30891572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30891572C>T	ENST00000392772.2	-	4	347	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SEC14L4_ENST00000255858.7_Missense_Mutation_p.E78K|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E63K|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E78K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	78						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGCTCACCTCAGGGGGCTGC	0.592000													50	165					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040136	31040136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:31040136G>A	ENST00000355537.3	+	4	3757	c.3610G>A	c.(3610-3612)Gat>Aat	p.D1204N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCAGCAGCGATGGCGGGGA	0.602000													4	81					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988271	134988271	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:134988271G>A	ENST00000535938.1	+	6	710	c.543G>A	c.(541-543)ggG>ggA	p.G181G	SAGE1_ENST00000370709.3_Silent_p.G181G|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.G181G	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	181										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTCCCACAGGGCTTATTAATA	0.433000													15	63					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8051084	8051084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:8051084C>T	ENST00000344293.5	+	5	2565	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	787	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAAGCCGGCGCCCTCGCAGAA	0.662000													8	117					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797021	33797021	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:33797021A>C	ENST00000257118.5	-	11	1984	c.1931T>G	c.(1930-1932)cTc>cGc	p.L644R	PHC2_ENST00000373418.3_Missense_Mutation_p.L109R|PHC2_ENST00000431992.1_Missense_Mutation_p.L615R|PHC2_ENST00000419414.2_Missense_Mutation_p.L645R|PHC2_ENST00000373416.1_Missense_Mutation_p.L109R|PHC2_ENST00000373422.3_Missense_Mutation_p.L250R|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	644					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGCCACAGAGCTCACACTT	0.527000													18	162					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102054994	102054994	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:102054994C>T	ENST00000549145.1	+	19	2050	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	MYBPC1_ENST00000550270.1_Silent_p.I637I|MYBPC1_ENST00000551300.1_Silent_p.I538I|MYBPC1_ENST00000547405.1_Silent_p.I611I|MYBPC1_ENST00000545503.2_Silent_p.I637I|MYBPC1_ENST00000541119.1_Silent_p.I625I|MYBPC1_ENST00000536007.1_Silent_p.I618I|MYBPC1_ENST00000452455.2_Silent_p.I637I|MYBPC1_ENST00000441232.1_Silent_p.I637I|MYBPC1_ENST00000392934.3_Silent_p.I624I|MYBPC1_ENST00000361685.2_Silent_p.I662I|MYBPC1_ENST00000361466.2_Silent_p.I662I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Silent_p.I637I|MYBPC1_ENST00000547509.1_Silent_p.I623I|MYBPC1_ENST00000553190.1_Silent_p.I637I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	637	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTGGTGTATCATGAACTGGG	0.483000													9	46					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147388	70147388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:70147388G>A	ENST00000374299.3	-	7	1273	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	SLC7A3_ENST00000298085.4_Missense_Mutation_p.H377Y			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	377					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGCCGGTGTGGATCCGAGCA	0.567000													4	14					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094974	46094974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46094974C>T	ENST00000323040.4	-	2	1095	c.151G>A	c.(151-153)Gag>Aag	p.E51K	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	51						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCCCAGCTCGTTGCGCTGT	0.617000													19	71					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952707	50952707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50952707G>A	ENST00000374103.4	-	13	1806	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	OGDHL_ENST00000419399.1_Missense_Mutation_p.S517F|OGDHL_ENST00000432695.1_Missense_Mutation_p.S365F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	574					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCCAGGGGGAGTCCAACCA	0.547000													10	99					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635594	7635594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7635594G>A	ENST00000359156.4	-	13	3297	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	CD163_ENST00000432237.2_Missense_Mutation_p.S1032L|CD163_ENST00000396620.3_Missense_Mutation_p.S1065L|CD163_ENST00000541972.1_Missense_Mutation_p.S1020L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1032					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTCTGCACTGAAATATCTGT	0.358000													5	80					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395022	54395022	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54395022G>A	ENST00000263431.3	+	6	906	c.624G>A	c.(622-624)acG>acA	p.T208T	PRKCG_ENST00000542049.1_Silent_p.T95T|PRKCG_ENST00000540413.1_Silent_p.T208T|PRKCG_ENST00000536044.1_Silent_p.T208T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	208	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T208T(2)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGAACCTGACGAAACAGAAGA	0.522000													4	102					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637009	248637009	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248637009C>T	ENST00000359594.2	+	1	383	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GGTTTTCCTCCTGGCTGCCAT	0.567000													3	45					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776174	94776174	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94776174C>T	ENST00000341584.3	-	3	929	c.783G>A	c.(781-783)ggG>ggA	p.G261G		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	261					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGAAGACAGTCCCATTGCCCA	0.562000													8	125					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116684	36116684	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:36116684G>A	ENST00000296603.4	-	11	1776	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	438						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATGGAAAGGAAGCAGGCAA	0.338000													3	40					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239851	3239851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3239851G>A	ENST00000217939.6	-	5	4029	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1292						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAATCTAAGGAATCATAAGG	0.368000													3	40					0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151824892	151824892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:151824892G>A	ENST00000368817.5	-	2	298	c.167C>T	c.(166-168)gCt>gTt	p.A56V		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	56							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTGGGAAGAGCATAATCCTT	0.512000													5	141					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949864	7949864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7949864C>T	ENST00000309838.2	-	1	345	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCATTGCTCCCAGAAGAAAA	0.368000													7	74					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32084285	32084285	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32084285G>A	ENST00000375201.4	-	17	1890	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S	ATF6B_ENST00000375203.3_Silent_p.S618S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	618					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCATCACCAGGGACATCTTGG	0.622000													8	76					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954511	119954511	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:119954511A>G	ENST00000327554.2	+	8	1432	c.968_splice	c.e8+1	p.S323_splice	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	323										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAAAGCACCCAGGTATGTGCT	0.443000													7	28					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119501644	119501644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:119501644C>T	ENST00000337940.4	+	1	88	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	NR1I2_ENST00000466380.1_Intron|NR1I2_ENST00000393716.2_Intron	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	0					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GGAGGGGTCCCTCAGAGCACC	0.567000													4	60					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10687887	10687887	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10687887A>C	ENST00000590923.1	-	9	1123	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S	AP1M2_ENST00000250244.6_Missense_Mutation_p.I345S			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	345	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAAAGACTTAATACTCCAAAT	0.582000													3	38					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54578952	54578952	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:54578952G>A	ENST00000064571.2	-	1	1576	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	92	C1q.					cell junction|extracellular region|synapse		p.I92I(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CGAAGTAAATGATGCGCGTCT	0.652000													39	367					0	0	1	0	0
TVP23C-CDRT4	100533496	broad.mit.edu	37	17	15458665	15458665	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:15458665T>A	ENST00000522212.2	-	2	138	c.26A>T	c.(25-27)gAc>gTc	p.D9V	TVP23C_ENST00000438826.3_Missense_Mutation_p.D9V|TVP23C_ENST00000428082.2_Missense_Mutation_p.D9V|TVP23C_ENST00000519970.1_5'UTR|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.D9V|TVP23C_ENST00000225576.3_Missense_Mutation_p.D9V	NM_001204478.1	NP_001191407.1																					ATCTTCAGTGTCATCATTACT	0.398000													13	84					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75961000	75961000	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:75961000G>A	ENST00000274364.6	+	22	2976	c.2679_splice	c.e22+1	p.Q893_splice	IQGAP2_ENST00000379730.3_Splice_Site_p.Q395_splice|IQGAP2_ENST00000396234.3_Splice_Site_p.Q389_splice|IQGAP2_ENST00000502745.1_Splice_Site_p.Q389_splice	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	893					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACCTTTTACAGGTGAGAACAA	0.363000													3	84					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25044463	25044463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:25044463G>A	ENST00000260600.5	-	19	3901	c.3050C>T	c.(3049-3051)gCc>gTc	p.A1017V	CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.A604V|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1017					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGCGAAGTCGGCCAGGTCAGC	0.607000													14	287					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124594	86124594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:86124594G>A	ENST00000394518.2	+	7	3390	c.3295G>A	c.(3295-3297)Ggt>Agt	p.G1099S	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1099S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1099					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTCTACAAGGTATGGCTGA	0.468000													8	68					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74007750	74007750	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74007750C>T	ENST00000301607.3	-	21	2822		c.e21-1		EVPL_ENST00000586740.1_Splice_Site	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin						keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTTCTTCTCCTGGAGAAGGC	0.567000													4	32					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092839	51092839	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:51092839G>A	ENST00000395542.2	-	14	4165	c.3981C>T	c.(3979-3981)atC>atT	p.I1327I	COBL_ENST00000265136.7_Silent_p.I1245I			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1245										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCCGGAGCGGATGGCGTCCA	0.632000													19	233					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150838997	150838997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150838997C>T	ENST00000397238.2	+	14	1817	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	AGAP3_ENST00000463381.1_Missense_Mutation_p.S275L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	570					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCAGAGGAGTCGTTTGAATTT	0.612000													4	111					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199981	155199981	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:155199981T>A	ENST00000460012.1	-	23	4101	c.3744A>T	c.(3742-3744)aaA>aaT	p.K1248N	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.K1248N|PLCH1_ENST00000340059.7_Missense_Mutation_p.K1286N|PLCH1_ENST00000334686.6_Missense_Mutation_p.K1248N|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1286					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCATCTGGTTTGGTTTTAG	0.478000													9	203					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794439	141794439	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141794439C>T	ENST00000475668.2	+	62	7380	c.7326C>T	c.(7324-7326)ctC>ctT	p.L2442L	MGAM_ENST00000549489.2_Silent_p.L1546L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1546					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTTCAGCCTCTTCGGCATAT	0.522000													5	81					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647862	125647862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:125647862G>A	ENST00000358524.3	-	3	157	c.112C>T	c.(112-114)Cat>Tat	p.H38Y	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	38						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AACCCAAGATGATATTTTTTA	0.418000													7	44					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762784	176762784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176762784G>A	ENST00000367662.3	+	20	6273	c.5109G>A	c.(5107-5109)tgG>tgA	p.W1703*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1703	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAGCACTGGATGGAACCTG	0.478000													14	77					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6330369	6330369	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6330369G>A	ENST00000381129.3	-	4	554	c.474C>T	c.(472-474)gcC>gcT	p.A158A	AIPL1_ENST00000576776.1_Silent_p.A158A|AIPL1_ENST00000570466.1_Silent_p.A136A|AIPL1_ENST00000574506.1_Silent_p.A146A|AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000576307.1_Silent_p.A98A|AIPL1_ENST00000250087.5_Silent_p.A95A|AIPL1_ENST00000575265.1_Silent_p.A158A	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	158					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AATCACTCGGGGCATCAACCT	0.607000													13	117					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119611922	119611922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:119611922C>T	ENST00000368468.3	-	5	1264	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E298K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	275					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACAGAAATTTCAGCATTCTAT	0.294000													6	43					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959919	157959919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:157959919G>A	ENST00000389413.3	-	6	717	c.614C>T	c.(613-615)cCt>cTt	p.P205L	PTPRN2_ENST00000404321.2_Missense_Mutation_p.P228L|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P205L|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P167L|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P188L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	205						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGACCCGGGAGGGTAGGTCAG	0.632000													8	67					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236651	106236651	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106236651G>A	ENST00000390551.2	-	0	413																											GGGCATGGGGGAGGTGTGTCA	0.647000													55	333					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97544590	97544590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:97544590C>T	ENST00000370192.3	-	23	3120	c.3020G>A	c.(3019-3021)aGg>aAg	p.R1007K		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	1007	4Fe-4S ferredoxin-type 3.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGTGTTGTCCTGGAAACCAT	0.463000													18	174					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053707	120053707	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:120053707G>A	ENST00000313400.4	-	2	628	c.528C>T	c.(526-528)tcC>tcT	p.S176S	ASTN2_ENST00000373996.3_Silent_p.S176S|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.S176S			O75129	ASTN2_HUMAN	astrotactin 2	176						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCTGCTCATGGAGACGTGGA	0.592000													16	94					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078591	22078591	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:22078591T>C	ENST00000382254.1	-	5	1281	c.195A>G	c.(193-195)gaA>gaG	p.E65E	CDH12_ENST00000504376.2_Silent_p.E65E|CDH12_ENST00000522262.1_Silent_p.E65E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	65	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACGTATTCTTCCAGCACAA	0.448000										HNSCC(59;0.17)			4	62					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636764	142636764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142636764C>T	ENST00000409607.3	+	1	162	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	16						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GTTCCTGGTTCCTATCTTGCT	0.632000													5	60					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140055487	140055487	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140055487A>G	ENST00000326232.9	-	7	802	c.599T>C	c.(598-600)gTt>gCt	p.V200A	SLC37A3_ENST00000429996.2_Silent_p.C151C|SLC37A3_ENST00000447932.2_Missense_Mutation_p.V200A|SLC37A3_ENST00000340308.3_Missense_Mutation_p.V200A	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	200					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATACTGAAGAACAGAAGAAGC	0.433000													8	124					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57566462	57566462	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57566462C>T	ENST00000602795.1	+	9	1152	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	NELFCD_ENST00000344018.3_Silent_p.I359I|NELFCD_ENST00000479207.1_3'UTR					negative elongation factor complex member C/D																		ACATCCACATCTTGGCGTACG	0.498000													14	106					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93169017	93169017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:93169017G>A	ENST00000370331.1	-	4	640	c.631C>T	c.(631-633)Cct>Tct	p.P211S	EVI5_ENST00000543509.1_Missense_Mutation_p.P211S|EVI5_ENST00000540033.1_Missense_Mutation_p.P211S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	211	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTGTGTTCAGGGTAAGTTCTA	0.343000													6	77					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759103	55759103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55759103C>T	ENST00000343399.3	+	1	209	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTGGAAATTTCATTCACGTCT	0.438000													4	74					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719148	140719148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140719148G>A	ENST00000394576.2	+	1	610	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	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)			GGACCGCGAGGAAGAGGCTGT	0.597000													8	91					0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743542	38743542	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:38743542T>G	ENST00000591585.1	-	2	466	c.274A>C	c.(274-276)Aaa>Caa	p.K92Q	PPP1R14A_ENST00000591291.1_Missense_Mutation_p.K92Q|PPP1R14A_ENST00000301242.4_Missense_Mutation_p.K92Q|PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000587515.1_Missense_Mutation_p.K22Q			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	92	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCTGGATTTTCCGGCTTCTC	0.512000													46	279					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182897	165182897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:165182897G>A	ENST00000342310.3	-	5	1032	c.650C>T	c.(649-651)tCc>tTc	p.S217F	LMX1A_ENST00000294816.2_Missense_Mutation_p.S217F|LMX1A_ENST00000367893.4_Missense_Mutation_p.S217F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	217						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)					GGGCTTGGAGGATACTTCAAA	0.562000													5	116					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513946	1513946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:1513946G>A	ENST00000421627.2	+	3	1222	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	442					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AAAGCCATGGGGGACGAGGAG	0.567000													3	31					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38691179	38691179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38691179G>A	ENST00000449981.2	+	3	566	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATATATTTGAAATTCTAGC	0.318000													9	129					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33503559	33503559	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:33503559C>T	ENST00000254260.3	-	5	497	c.462G>A	c.(460-462)ctG>ctA	p.L154L	RHPN2_ENST00000400226.4_Silent_p.L3L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	154	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTACTTGTCTCAGATCCATAA	0.408000													5	83					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065841	35065841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35065841G>A	ENST00000382002.5	-	10	1645	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	PRLR_ENST00000342362.5_Missense_Mutation_p.H306Y|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.H306Y|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	407					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACCAGCATGAAAATAGGGG	0.493000													17	203					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95845936	95845936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95845936C>T	ENST00000398107.2	+	3	589	c.67C>T	c.(67-69)Caa>Taa	p.Q23*	ZNF2_ENST00000425369.1_Intron|ZNF2_ENST00000453539.2_Nonsense_Mutation_p.Q65*|ZNF2_ENST00000340539.5_Nonsense_Mutation_p.Q65*|ZNF2_ENST00000295210.6_Intron	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGTGATTTTCCAATTGAAGAG	0.463000													11	124					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911182	43911182	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43911182C>T	ENST00000314537.5	+	11	1257	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	CRHR1_ENST00000293493.7_Silent_p.F169F|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000398285.3_Silent_p.F373F|CRHR1_ENST00000352855.5_Silent_p.F304F|CRHR1_ENST00000577353.1_Silent_p.F344F	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	373					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGTCGTCTTCATCTACTTCA	0.587000													14	146					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140840	143140840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143140840C>T	ENST00000332690.1	+	1	295	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	99					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTAGCTTTCCAGTGGGACTT	0.478000													5	112					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234173762	234173762	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:234173762T>C	ENST00000392017.4	+	5	871	c.614T>C	c.(613-615)cTt>cCt	p.L205P	ATG16L1_ENST00000392018.1_Missense_Mutation_p.L205P|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L205P|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	205					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GCCAATCGGCTTAATGCAGAG	0.458000													6	84					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680754	85680754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:85680754C>T	ENST00000316824.3	+	3	810	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	219					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGACAGCTACCCACAGGTATG	0.358000													7	96					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574314	142574314	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142574314G>A	ENST00000359396.3	-	6	854	c.609C>T	c.(607-609)ctC>ctT	p.L203L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	203					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCTGGAGGATGAGGATGTGTA	0.572000													21	182					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034440	82034440	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:82034440C>T	ENST00000328945.5	-	2	151	c.24G>A	c.(22-24)aaG>aaA	p.K8K	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	8					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGACACTTTCCTTTTGAGATC	0.378000													10	68					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061315	89061315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:89061315C>T	ENST00000555900.1	+	1	557	c.245C>T	c.(244-246)tCa>tTa	p.S82L	ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Missense_Mutation_p.S82L|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000406216.3_Missense_Mutation_p.S82L|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000555755.1_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	299						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCAAAAATTTCATCTTTGGAG	0.313000													5	18					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719891	95719891	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:95719891G>A	ENST00000480546.1	-	0	1406					NR_002319.2																						TGCCACTGGAGCCTGCTCGCT	0.507000													4	48					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429828	42429828	+	Silent	SNP	C	C	T	rs63751698		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42429828C>T	ENST00000053867.3	+	12	1595	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	GRN_ENST00000589265.1_Silent_p.S354S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	511					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGCCCGTAGCCCTCACGTGG	0.632000													10	121					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45554049	45554049	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:45554049C>T	ENST00000379161.4	-	4	679	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	211					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACTGGACAATCTTCTCGTGTG	0.284000													5	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685695	100685695	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100685695G>A	ENST00000306151.4	+	3	11062	c.10998G>A	c.(10996-10998)gtG>gtA	p.V3666V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3666	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)					GCACACCTGTGATCACTTCTA	0.493000													19	246					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631718	51631718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51631718G>A	ENST00000440804.3	+	6	1221	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G385E	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	385					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGGGCGTGGGAGATACGGGC	0.587000													13	127					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35295497	35295497	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:35295497G>A	ENST00000254457.5	+	1	1414	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	1					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CAAAGACCATGGTTCACTGTG	0.572000													8	85					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040210	41040210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41040210G>A	ENST00000352632.3	+	20	4405	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1440E|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1440E|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1440E|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G116E|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G183E			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1440					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACCCTGGAGGAGACCTGGCC	0.587000													4	61					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65359559	65359559	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:65359559G>A	ENST00000309295.4	+	18	4735	c.4470G>A	c.(4468-4470)cgG>cgA	p.R1490R	AP001362.1_ENST00000597463.1_Silent_p.I87I|EHBP1L1_ENST00000529596.1_3'UTR|EHBP1L1_ENST00000533364.1_Silent_p.R95R	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1490										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACAAGGAGCGGATGTGAGTGG	0.677000													8	57					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008415	43008415	+	Silent	SNP	G	G	A	rs147056081	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43008415G>A	ENST00000535468.1	-	21	4214	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	CUL7_ENST00000265348.3_Silent_p.I1292I	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1292					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCAGGGACCGATCTGCTCCA	0.662000													12	88					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20551999	20551999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20551999C>T	ENST00000329697.6	-	13	1774	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	ACSM2B_ENST00000565232.1_Missense_Mutation_p.A536T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A536T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A457T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	536					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTGTATGGGGCTGTCACTGAC	0.478000													10	79					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572712	169572712	+	Missense_Mutation	SNP	C	C	T	rs140441511		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169572712C>T	ENST00000316428.5	-	6	937	c.880G>A	c.(880-882)Gat>Aat	p.D294N	LRRC31_ENST00000523069.1_Missense_Mutation_p.D294N|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.D238N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	294								p.D294N(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCACCTAGATCCTTATTGCAG	0.453000													7	58					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074666	106074666	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:106074666G>A	ENST00000278071.2	-	3	1596	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	ITPRIP_ENST00000337478.1_Silent_p.L382L|ITPRIP_ENST00000358187.2_Silent_p.L382L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	382						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAAAGGACAGGAGCCAGTCT	0.592000													5	66					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324213	25324213	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:25324213G>A	ENST00000549804.2	+	0	1377				SNORD116-13_ENST00000384408.1_RNA																							ATGGACCAATGATGACTTCCA	0.448000													13	113					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52854944	52854944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52854944G>A	ENST00000371568.3	-	7	1350	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	ORC1_ENST00000371566.1_Missense_Mutation_p.R378C	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	378					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCGGATACGATGGGGAGTA	0.498000													15	123					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076824	92076824	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92076824C>T	ENST00000256343.3	-	21	2754	c.2598_splice	c.e21+1	p.P866_splice		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	866					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTTTTTTTACCGGCAAAGTTT	0.358000													3	53					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52883755	52883755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52883755C>T	ENST00000330722.6	-	6	1243	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	392	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATCTCAGATCTCAGCCTCTG	0.532000													7	51					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641648	104641648	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:104641648C>T	ENST00000315264.7	+	11	2484	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	KIF26A_ENST00000423312.2_Silent_p.F841F			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	841					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCAGCACCTTCGCGGAGCTGC	0.697000													7	44					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677114	100677114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100677114C>T	ENST00000306151.4	+	3	2481	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	806	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)					GAAGGAAGTCCTTTATTAACA	0.483000													36	530					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408570	29408570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29408570C>T	ENST00000444197.2	+	1	1488	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATCTATATTCGCCCTAAGGC	0.582000													39	330					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740901	71740901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:71740901G>A	ENST00000269500.5	-	10	1435	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	FBXO15_ENST00000419743.2_Missense_Mutation_p.S443F|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	367										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GCACACCGGGGAACTGAAACA	0.478000													17	183					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917611	4917611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4917611C>T	ENST00000399583.3	-	2	347	c.160G>A	c.(160-162)Gag>Aag	p.E54K	RADIL_ENST00000536091.1_Missense_Mutation_p.E54K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	54					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTGGAGAGCTCGGCGGGGTCA	0.647000													4	19					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872598	54872598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54872598C>T	ENST00000391743.3	-	2	515	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	LAIR1_ENST00000434277.2_Missense_Mutation_p.G96R|LAIR1_ENST00000391742.2_Missense_Mutation_p.G97R|LAIR1_ENST00000313038.6_Missense_Mutation_p.G90R|LAIR1_ENST00000348231.4_Missense_Mutation_p.G97R|LAIR1_ENST00000474878.1_Missense_Mutation_p.G96R|LAIR1_ENST00000463489.1_Intron			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	97	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CGATAAGGCCCGGCATTTCCT	0.507000													10	217					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891930	132891930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:132891930G>A	ENST00000275198.1	+	1	470	c.470G>A	c.(469-471)tGg>tAg	p.W157*		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	157						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)		AGCGTGTCCTGGATCCTGCCC	0.502000													17	226					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190599	6190599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6190599G>A	ENST00000530810.1	-	1	1039	c.958C>T	c.(958-960)Cct>Tct	p.P320S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCCCAGAGGGGAGGTACAG	0.473000													4	62					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993860	176993860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176993860G>A	ENST00000367654.2	-	6	1142	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	ASTN1_ENST00000367657.3_Missense_Mutation_p.P377S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P377S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P377S|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	377					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTTCGGGGAGAACCCACT	0.498000													3	43					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20763873	20763873	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20763873C>T	ENST00000258821.3	-	7	893	c.837G>A	c.(835-837)gaG>gaA	p.E279E		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	279					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TTACCTTACTCTCAAGGAGGC	0.453000													5	87					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480400	73480400	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:73480400A>T	ENST00000523207.1	+	2	1019	c.431A>T	c.(430-432)aAa>aTa	p.K144I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	144					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TATCATCAAAAAAAAGAACAA	0.448000													5	81					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68671265	68671265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:68671265G>A	ENST00000362034.2	-	1	23	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	5					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCGTCAGGGAAGATGCTGC	0.677000													17	128					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317854	77317854	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:77317854C>T	ENST00000282849.5	-	23	4083	c.3665G>A	c.(3664-3666)tGa>tAa	p.*1222*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACACCAAGATCAGATCTTCCT	0.507000													4	47					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25019676	25019676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25019676G>A	ENST00000382114.4	-	6	775	c.590C>T	c.(589-591)cCa>cTa	p.P197L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	197	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ATACTCTGGTGGACCAATACA	0.418000													11	143					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344791	50344791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:50344791G>A	ENST00000199280.3	+	1	263	c.178G>A	c.(178-180)Ggc>Agc	p.G60S		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	60					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACAGGCTCTGGGCCACATAAG	0.647000													8	89					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140210016	140210016	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140210016T>C	ENST00000529310.1	+	1	2454	c.2340T>C	c.(2338-2340)ccT>ccC	p.P780P	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTTGTCCTATTATGATGG	0.448000													14	118					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803326	27803326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27803326G>A	ENST00000408964.2	+	1	3938	c.3887G>A	c.(3886-3888)cGa>cAa	p.R1296Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1296										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACCAAGCGACTTAGAAAA	0.408000													4	77					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172972	51172972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51172972C>T	ENST00000440970.1	-	2	3301	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R1054Q	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1054					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1054Q(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCAGATCTCGCATCTGATG	0.473000													3	48					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325937	57325937	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57325937G>A	ENST00000326441.9	-	10	4236	c.3873C>T	c.(3871-3873)ttC>ttT	p.F1291F	PEG3_ENST00000423103.2_Silent_p.F1291F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.F1165F|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.F1167F|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1291					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)		CTGGGTTGACGAAAGATTCTC	0.478000													9	49					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57168660	57168660	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:57168660C>T	ENST00000376149.3	-	3	608		c.e3+1		TRIM37_ENST00000393065.2_Splice_Site|TRIM37_ENST00000262294.7_Splice_Site|TRIM37_ENST00000393066.3_Splice_Site|TRIM37_ENST00000584889.1_Splice_Site			O94972	TRI37_HUMAN	tripartite motif containing 37							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAAACACTTACCGGCAATGAG	0.378000									Mulibrey Nanism				7	72					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636423	196636423	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196636423G>A	ENST00000312428.6	-	61	11494	c.11394C>T	c.(11392-11394)acC>acT	p.T3798T	DNAH7_ENST00000409063.1_Silent_p.T281T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3798					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						AATCTCTTATGGTCTTCAGTA	0.373000													7	154					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230393	21230393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21230393C>T	ENST00000233242.1	-	26	9474	c.9347G>A	c.(9346-9348)gGa>gAa	p.G3116E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3116					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCATTTATTCCTACATGGGC	0.383000													4	91					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731903	73731903	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:73731903C>T	ENST00000223398.6	+	2	354	c.27C>T	c.(25-27)ccC>ccT	p.P9P	CLIP2_ENST00000361545.5_Silent_p.P9P|CLIP2_ENST00000395060.1_Silent_p.P9P	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	9						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCTGAAGCCCCCCGGCCGTG	0.667000													8	106					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149172482	149172482	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149172482G>A	ENST00000340622.3	-	7	1208	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	ZNF746_ENST00000458143.2_Silent_p.L311L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	310					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTCCAAACAGGGTCCCGTGA	0.557000													3	75					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828647	61828647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61828647C>T	ENST00000280772.1	-	37	12183	c.11992G>A	c.(11992-11994)Gaa>Aaa	p.E3998K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3998					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAATATTCAATGGAATGT	0.453000													5	63					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15627669	15627669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:15627669C>T	ENST00000338950.5	-	5	365	c.260G>A	c.(259-261)tGg>tAg	p.W87*	DTNBP1_ENST00000355917.3_Nonsense_Mutation_p.W87*|DTNBP1_ENST00000344537.5_Nonsense_Mutation_p.W87*	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	87					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TTTCTTCTCCCAGTGCGCAGA	0.493000									Hermansky-Pudlak syndrome				3	32					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203842	2203842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2203842G>A	ENST00000544865.1	-	2	622	c.112C>T	c.(112-114)Cct>Tct	p.P38S	SMG6_ENST00000263073.5_Missense_Mutation_p.P69S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	69					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCACTCCCAGGGGGTTCCTTG	0.473000													9	122					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150482158	150482158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150482158C>T	ENST00000369047.4	+	3	268	c.143C>T	c.(142-144)tCc>tTc	p.S48F	ECM1_ENST00000346569.6_Missense_Mutation_p.S48F|ECM1_ENST00000369049.4_Missense_Mutation_p.S48F|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	48					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTCCCCCCTCCCCACCCCTA	0.597000													24	221					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756345	94756345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94756345G>A	ENST00000554723.1	-	2	1124	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SERPINA10_ENST00000393096.1_Missense_Mutation_p.R196C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R196C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R196C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	196					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGGCATTGCGAAAATTCATA	0.398000													12	107					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794487	15794487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15794487C>T	ENST00000550308.1	+	7	1212	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	CYP4F12_ENST00000324632.9_Missense_Mutation_p.L278F	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCGTCGCACCCTCCCCACTCA	0.527000													14	104					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480770	19480770	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:19480770G>A	ENST00000270570.4	+	17	1703	c.1617G>A	c.(1615-1617)agG>agA	p.R539R	SLC47A1_ENST00000395585.1_Silent_p.R539R|SLC47A1_ENST00000571335.1_Silent_p.R285R|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.R539R|SLC47A1_ENST00000575023.1_Silent_p.R237R|SLC47A1_ENST00000436810.2_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	539						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AATTGTCCAGGAAACAGCTGG	0.527000													11	182					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505809	32505809	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:32505809C>T	ENST00000520502.2	+	1	573	c.573C>T	c.(571-573)ttC>ttT	p.F191F	NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000520407.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	448	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCATCCTTCCCTTCACCCA	0.498000													4	91					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702367	27702367	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27702367G>A	ENST00000438700.3	-	1	930	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	271					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCACCTGCCAGGCGTACAGGA	0.622000													8	58					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870220	131870220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:131870220C>T	ENST00000359827.3	-	16	3958	c.2996G>A	c.(2995-2997)cGa>cAa	p.R999Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R999Q			Q9HCM2	PLXA4_HUMAN	plexin A4	999	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGGAGATCGCCTGGAGGG	0.592000													15	76					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490169	37490169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37490169C>T	ENST00000374660.1	+	37	3073	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R873C|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R873C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAGAGTCTCCGTGAGACTGT	0.274000													7	63					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34809826	34809826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:34809826G>A	ENST00000338074.2	+	20	2641	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	EPB41L1_ENST00000441639.1_Missense_Mutation_p.R725Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R725Q|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R647Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R826Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R718Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	827	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATCGAGAAGCGAATCATCATT	0.537000													11	151					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025966	72025966	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:72025966C>T	ENST00000277942.5	-	2	196	c.189G>A	c.(187-189)ctG>ctA	p.L63L		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	63						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						TGAAACAGACCAGGGTGTTGC	0.547000													3	61					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185151	53185151	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53185151C>T	ENST00000417996.2	-	7	1448	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	KRT3_ENST00000309505.3_Silent_p.K458K	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	458	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CATTGGCATCCTTGAGGGCCA	0.592000													10	114					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189925	124189925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124189925G>A	ENST00000357438.2	-	1	259	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TACACTGGAGGGTAAAGTTGA	0.438000													6	53					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33312753	33312753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:33312753C>T	ENST00000242067.6	+	8	1353	c.832C>T	c.(832-834)Cga>Tga	p.R278*	BBS9_ENST00000396127.2_Nonsense_Mutation_p.R278*|BBS9_ENST00000355070.2_Nonsense_Mutation_p.R278*|BBS9_ENST00000425508.2_Nonsense_Mutation_p.R233*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.R278*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.R278*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	278					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGGACAAATTCGATTCATGAA	0.378000									Bardet-Biedl syndrome				7	84					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685746	125685746	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:125685746C>T	ENST00000371126.1	-	1	1088	c.846G>A	c.(844-846)ttG>ttA	p.L282L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	282										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTAGCCGTCCAAGGACACCG	0.622000													8	32					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	48					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56867157	56867157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:56867157C>T	ENST00000564887.1	+	11	1636	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	NUP93_ENST00000542526.1_Missense_Mutation_p.P336L|NUP93_ENST00000569842.1_Missense_Mutation_p.P459L|NUP93_ENST00000308159.5_Missense_Mutation_p.P459L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	459					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AACCAGCAACCCTTCCTCTAC	0.552000													19	172					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53203218	53203218	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53203218C>A	ENST00000293774.4	-	4	1275	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N	KRT4_ENST00000551956.1_Missense_Mutation_p.K261N|KRT4_ENST00000458244.2_Missense_Mutation_p.K241N			B4DRS2	B4DRS2_HUMAN	keratin 4	261						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GACTGTCCACCTTGGCCTCCA	0.547000													6	168					0.000157383	0.000158441	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70889118G>A	ENST00000393567.2	-	73	12506	c.12356C>T	c.(12355-12357)tCc>tTc	p.S4119F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4119								p.S4070F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTCCTGGAAGGAAAAATCGAA	0.527000													5	65					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059122	11059122	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:11059122G>A	ENST00000287766.4	+	3	646	c.225G>A	c.(223-225)ggG>ggA	p.G75G	SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	75					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCTCTGCGGGAAAAATGGTG	0.607000													8	92					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416853	110416853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110416853C>T	ENST00000378402.5	+	15	1548	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	482					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)			GTACCAGTATCGAAATGTTTA	0.363000										HNSCC(38;0.096)			3	35					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226128611	226128611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:226128611C>T	ENST00000366820.5	-	1	578	c.230G>A	c.(229-231)aGg>aAg	p.R77K	LEFTY2_ENST00000420304.2_Missense_Mutation_p.R77K	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	77					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CTGGCTGAACCTCTTTCCGCG	0.687000													3	88					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25249938	25249938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:25249938G>A	ENST00000354454.3	+	14	1530	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	LRMP_ENST00000547044.1_Missense_Mutation_p.R234Q|LRMP_ENST00000548766.1_Missense_Mutation_p.R234Q|RP11-713N11.4_ENST00000555862.1_RNA	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	290					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGTGCAGCACGAGTGGCCAGT	0.413000													10	65					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5246352	5246352	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:5246352T>G	ENST00000380448.1	+	5	518	c.265T>G	c.(265-267)Ttc>Gtc	p.F89V	AKR1C4_ENST00000263126.1_Missense_Mutation_p.F89V			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	89					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TTGGTGCACTTTCTTTCAACC	0.363000													11	91					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626095	140626095	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140626095C>A	ENST00000231173.3	+	1	949	c.949C>A	c.(949-951)Cta>Ata	p.L317I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		317	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTATGATCTAGATATAGA	0.408000													14	170					2.23348e-06	2.25337e-06	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196749422	196749422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196749422G>A	ENST00000312428.6	-	35	5750	c.5650C>T	c.(5650-5652)Cga>Tga	p.R1884*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1884					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						TTTCGAGTTCGATCTGAAATT	0.358000													6	79					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55711726	55711726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55711726C>T	ENST00000376350.3	-	7	1320	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R255Q|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	433	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGTTGTGTTTCGGGTCTCTGT	0.542000													21	157					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233490	168233490	+	Missense_Mutation	SNP	A	A	T	rs140643965		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:168233490A>T	ENST00000519560.1	-	9	1315	c.896T>A	c.(895-897)aTg>aAg	p.M299K	SLIT3_ENST00000404867.3_Missense_Mutation_p.M299K|SLIT3_ENST00000332966.8_Missense_Mutation_p.M299K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	299	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGAATCTCCATCAAGCCCTT	0.582000													9	127					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325417	152325417	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152325417C>T	ENST00000388718.5	-	3	4917	c.4845G>A	c.(4843-4845)gaG>gaA	p.E1615E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1615							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCGTGTCTCTCATGAACTG	0.522000													11	225					0	0	1	0	0
AIF1L	83543	broad.mit.edu	37	9	133993169	133993169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:133993169G>A	ENST00000372309.3	+	6	461	c.307G>A	c.(307-309)Gag>Aag	p.E103K	AIF1L_ENST00000372300.1_Missense_Mutation_p.E77K|AIF1L_ENST00000372298.1_Missense_Mutation_p.E77K|AIF1L_ENST00000372301.2_Missense_Mutation_p.E21K|AIF1L_ENST00000372312.3_Missense_Mutation_p.E82K|AIF1L_ENST00000372297.2_Missense_Mutation_p.E21K|AIF1L_ENST00000372302.1_Missense_Mutation_p.E69K|AIF1L_ENST00000247291.3_Missense_Mutation_p.E77K	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	77	EF-hand 2; degenerate.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						GAGGATGATGGAGAAGCTTGG	0.517000													15	71					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120449598	120449598	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120449598T>C	ENST00000273375.3	-	2	112	c.83A>G	c.(82-84)cAa>cGa	p.Q28R	RABL3_ENST00000483733.1_Missense_Mutation_p.Q28R|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	28	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CACTTGATTTTGGCATAGGAG	0.383000													8	83					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785536	134785536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:134785536C>T	ENST00000537858.1	-	2	294	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	32										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTGGTATCATGCTGCAGC	0.652000													11	101					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132750	52132750	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52132750G>A	ENST00000222107.4	-	3	699	c.561C>T	c.(559-561)ccC>ccT	p.P187P	SIGLEC5_ENST00000534261.2_Silent_p.P187P|SIGLEC5_ENST00000429354.3_Silent_p.P187P|SIGLEC5_ENST00000570106.2_Silent_p.P187P|SIGLEC5_ENST00000599649.1_Silent_p.P187P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	187	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGGGGTCCAGGGGGCTGAGGG	0.657000													3	13					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65822412	65822412	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:65822412A>T	ENST00000321892.4	+	1	633	c.572A>T	c.(571-573)gAa>gTa	p.E191V	BPTF_ENST00000424123.3_Missense_Mutation_p.E52V|BPTF_ENST00000306378.6_Missense_Mutation_p.E191V|BPTF_ENST00000335221.5_Missense_Mutation_p.E191V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	191					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACTGCACGGAAAGCAGCTTC	0.587000													5	97					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25312939	25312939	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:25312939C>T	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA																							GTGCTTGGATCGATGATGAGT	0.502000													17	157					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241973164	241973164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:241973164C>T	ENST00000310397.8	+	3	514	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Nonsense_Mutation_p.Q172*|SNED1_ENST00000401884.1_Nonsense_Mutation_p.Q172*|SNED1_ENST00000405547.3_Nonsense_Mutation_p.Q172*	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	172	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CAACACATTCCAGACTGTGCT	0.617000													3	32					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211713	55211713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:55211713G>A	ENST00000201031.2	+	6	1213	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	TFAP2C_ENST00000544508.1_Missense_Mutation_p.E155K	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	324	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTGTGAAGCCGAATTTCCTAG	0.463000													13	93					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046804	42046804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:42046804G>A	ENST00000372584.1	-	3	4679	c.3665C>T	c.(3664-3666)tCc>tTc	p.S1222F	HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1222F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1222F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1222F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1222					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGAGGAAGGAAGGGGGCTG	0.592000													9	98					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	438196	438196	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:438196C>T	ENST00000399788.2	-	14	2136		c.e14-1		KDM5A_ENST00000382815.4_Splice_Site	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A						chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAATGGGCAACTGAAAATGAG	0.423000			T	NUP98	AML								5	35					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16675184	16675184	+	Missense_Mutation	SNP	G	G	A	rs142031622	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:16675184G>A	ENST00000513610.1	-	35	5196	c.4742C>T	c.(4741-4743)tCc>tTc	p.S1581F	MYO10_ENST00000274203.9_Missense_Mutation_p.S938F|MYO10_ENST00000505695.1_Missense_Mutation_p.S920F|MYO10_ENST00000515803.1_Missense_Mutation_p.S920F|MYO10_ENST00000427430.2_Missense_Mutation_p.S938F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1581	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTCAGACATGGACTCCAGTTG	0.502000													3	44					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211438075	211438075	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211438075C>T	ENST00000233072.5	+	2	376	c.180C>T	c.(178-180)tcC>tcT	p.S60S	CPS1_ENST00000430249.2_Silent_p.S66S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	60	Anthranilate phosphoribosyltransferase homolog.				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)		AAGGTTACTCCTTTGGCCATC	0.418000													12	119					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827637	31827637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31827637G>A	ENST00000354297.4	+	4	420	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	BPIFA1_ENST00000375422.2_Missense_Mutation_p.E117K|BPIFA1_ENST00000375413.4_Missense_Mutation_p.E117K	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	117					innate immune response	extracellular region	lipid binding										CCAGCTGCTGGAACTTGGCCT	0.532000													20	236					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471806	47471806	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47471806T>C	ENST00000266581.4	-	2	1446	c.980A>G	c.(979-981)gAt>gGt	p.D327G	AMIGO2_ENST00000550413.1_Missense_Mutation_p.D327G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.D327G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.D327G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	327	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGTCTGTTATCTGGACCCAC	0.463000													11	210					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231409	7231409	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:7231409G>A	ENST00000383467.2	+	1	287	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	91										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAGGTGGGGAAACTGACCC	0.577000													4	64					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25000604	25000604	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:25000604C>T	ENST00000381989.3	-	33	5084	c.4979_splice	c.e33+1	p.R1660_splice		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1660	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTAAAGCCACCTGGAAATAGA	0.333000													7	57					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249596	177249596	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:177249596G>A	ENST00000361539.4	+	8	1596	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		428						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTACTGTGGGGAAAGCACCT	0.542000													8	100					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084769	39084769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39084769C>T	ENST00000209718.3	-	5	1151	c.727G>A	c.(727-729)Gat>Aat	p.D243N	KRT23_ENST00000436344.3_Missense_Mutation_p.D106N|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	243	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGTCTCATATCCTCCAGGACC	0.388000													15	158					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65273616	65273616	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:65273616C>T	ENST00000534336.1	+	0	8384					NR_002819.2																						TCCTGGTTTCCAGGACGGGGT	0.413000													8	50					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55571371	55571371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:55571371G>A	ENST00000395438.1	-	34	4776	c.4382C>T	c.(4381-4383)cCa>cTa	p.P1461L	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1072L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGACTCCATGGATAATTCCT	0.328000										HNSCC(58;0.16)			3	24					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262068	158262068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158262068G>A	ENST00000368170.3	+	3	802	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	175					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGGCGTCACAGAAACAGTGTA	0.463000													25	281					0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122134328	122134328	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:122134328G>A	ENST00000330689.4	-	1	554	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	16										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TGGCCGATGAGGAGAGGGCCA	0.507000													12	140					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317043	203317043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:203317043G>A	ENST00000354955.4	-	2	819	c.356C>T	c.(355-357)tCc>tTc	p.S119F	FMOD_ENST00000464898.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	119					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTCCTGGATGGAGGTGATCTG	0.542000													5	35					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214568	46214568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:46214568G>A	ENST00000371374.1	-	4	679	c.488C>T	c.(487-489)cCa>cTa	p.P163L	RCAN2_ENST00000306764.7_Missense_Mutation_p.P163L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P117L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P163L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	117					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCCAACAGGTGGGGAGGAAGG	0.547000													6	38					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752050	36752050	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:36752050C>T	ENST00000354618.5	+	4	443	c.219C>T	c.(217-219)ttC>ttT	p.F73F	THRAP3_ENST00000469141.2_Silent_p.F73F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	73	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCGGGATTTCCGAGGTCACA	0.453000			T	USP6	aneurysmal bone cysts								16	99					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37626154	37626154	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:37626154G>A	ENST00000434837.2	-	3	1427	c.249C>T	c.(247-249)ttC>ttT	p.F83F	MDGA1_ENST00000297153.7_Silent_p.F83F|MDGA1_ENST00000505425.1_Silent_p.F83F	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	83	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATGTCTCCTGGAACTTGTCCG	0.657000													15	104					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351455	19351455	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19351455C>T	ENST00000252575.5	+	12	3496	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	NCAN_ENST00000538881.1_Silent_p.I602I	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1151	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACGACAGGATCGTGGAGAGAG	0.637000													8	161					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769093	57769093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57769093G>A	ENST00000371030.2	+	1	3019	c.3019G>A	c.(3019-3021)Gac>Aac	p.D1007N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1007						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATCCTGGAGGACCCCAGCTG	0.637000													5	61					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394920	94394920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94394920G>A	ENST00000267594.5	+	3	782	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FAM181A_ENST00000557000.2_Missense_Mutation_p.E97K|FAM181A_ENST00000556222.1_Missense_Mutation_p.E97K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E97K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	159										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGGCTGCAAGGAGAAGGTGCT	0.642000													8	43					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136409484	136409484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:136409484C>T	ENST00000264160.4	+	17	2175	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P474L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P547L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P603L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P473L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	602	Poly-Pro.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ccaccacctcctcctcctccc	0.582000													13	103					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040114	31040114	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:31040114C>T	ENST00000355537.3	+	4	3735	c.3588C>T	c.(3586-3588)gcC>gcT	p.A1196A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACTGTCTGCCCTCAGCAAAG	0.587000													9	93					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224740	42224740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42224740G>A	ENST00000541110.1	-	11	3065	c.2497C>T	c.(2497-2499)Ccc>Tcc	p.P833S	TRERF1_ENST00000354325.2_Missense_Mutation_p.P730S|TRERF1_ENST00000340840.2_Missense_Mutation_p.P730S|TRERF1_ENST00000372917.4_Missense_Mutation_p.P730S|TRERF1_ENST00000372922.4_Missense_Mutation_p.P813S			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	813	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTGGCCAGGGCTTCCATACC	0.512000													4	101					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169952209	169952209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169952209C>T	ENST00000327239.4	+	8	2396	c.892C>T	c.(892-894)Cca>Tca	p.P298S	DHRS9_ENST00000432060.2_Missense_Mutation_p.P358S|DHRS9_ENST00000357546.2_Missense_Mutation_p.P298S|DHRS9_ENST00000428522.1_Missense_Mutation_p.P298S|DHRS9_ENST00000602501.1_Missense_Mutation_p.P298S|DHRS9_ENST00000421653.1_Missense_Mutation_p.P151S|DHRS9_ENST00000412271.1_Missense_Mutation_p.P298S|DHRS9_ENST00000436483.2_Missense_Mutation_p.P298S	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	298					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTCTCACATGCCAGCAGCTTT	0.463000													9	68					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917712	26917712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:26917712C>T	ENST00000539517.2	-	5	1294	c.977G>A	c.(976-978)gGa>gAa	p.G326E	NOVA1_ENST00000465357.2_Missense_Mutation_p.G302E|NOVA1_ENST00000267422.7_Missense_Mutation_p.G204E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	329	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GAGATTATATCCATAGCTGGC	0.522000													4	33					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191740	18191740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18191740C>T	ENST00000600835.1	-	5	614	c.311G>A	c.(310-312)gGg>gAg	p.G104E	IL12RB1_ENST00000430026.2_Missense_Mutation_p.G104E|IL12RB1_ENST00000322153.6_Missense_Mutation_p.G104E|IL12RB1_ENST00000593993.1_Missense_Mutation_p.G104E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	104	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACAGACACCCCAGCCTGGTC	0.622000													11	125					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165801865	165801865	+	Silent	SNP	G	G	A	rs139267725		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:165801865G>A	ENST00000366882.1	-	18	1858	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	PDE10A_ENST00000354448.4_Silent_p.F568F|PDE10A_ENST00000539869.2_Silent_p.F578F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	568					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GAGGGTGGTCGAACTTCTGCA	0.537000													10	103					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527682	23527682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:23527682G>A	ENST00000296682.3	+	11	2667	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	829					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E829*(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						ACACACAGGGGAGAAGCCCTA	0.582000										HNSCC(3;0.000094)			7	122					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137710502	137710502	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:137710502G>A	ENST00000371817.3	+	55	4645	c.4230_splice	c.e55-1	p.G1411_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1411	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGTCCTGCAGGGAGAAGCCGG	0.697000													4	19					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65496858	65496858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65496858C>T	ENST00000261883.4	-	6	833	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	223					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGCATGAAGTCCTGGCACATG	0.597000													10	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453612	179453612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179453612C>T	ENST00000589042.1	-	304	63064	c.62840G>A	c.(62839-62841)gGg>gAg	p.G20947E	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19306E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11882E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12074E|TTN_ENST00000359218.5_Missense_Mutation_p.G12007E|TTN_ENST00000342992.6_Missense_Mutation_p.G18379E|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19306	Ig-like 112.						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)			TGTTGGAGGCCCTGTGCCTAT	0.418000													3	24					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976369	121976369	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:121976369G>A	ENST00000265922.3	-	6	1211	c.750C>T	c.(748-750)atC>atT	p.I250I	DBC1_ENST00000373964.2_Silent_p.I250I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		250	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CATTGCACATGATATAGCTCA	0.512000													9	59					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100470360	100470360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100470360G>A	ENST00000273962.3	-	8	1217	c.905C>T	c.(904-906)tCg>tTg	p.S302L	TRMT10A_ENST00000394877.3_Missense_Mutation_p.S302L|TRMT10A_ENST00000394876.2_Missense_Mutation_p.S302L	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		ATCACTGTCCGATCCACCTTC	0.443000													11	116					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	C	T	rs150656642		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498000													11	82					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088262	4088262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4088262G>A	ENST00000341657.4	-	12	1585	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P517L|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P559L|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	517						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGCAGGTTTGGGTTGGCGCC	0.627000													8	87					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134085	161134085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161134085C>T	ENST00000308192.9	+	5	538	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	159	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACAACGATCCGCAGGGGCC	0.483000													9	132					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741366	51741366	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:51741366G>A	ENST00000251076.5	-	43	9213	c.8926C>T	c.(8926-8928)Cta>Tta	p.L2976L	DMXL2_ENST00000543779.2_Silent_p.L2977L|DMXL2_ENST00000449909.3_Silent_p.L2340L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2976						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAATGAATTAGGCCATGGCCT	0.413000													11	92					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625867	20625867	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:20625867G>A	ENST00000525748.1	+	3	849	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	192					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGCCCGAGGGAACTGGTCCA	0.597000													17	197					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449940	138449940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138449940C>T	ENST00000344876.4	-	2	2908	c.2522G>A	c.(2521-2523)gGg>gAg	p.G841E	PCDH18_ENST00000412923.2_Missense_Mutation_p.G840E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620E|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21E|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTGATATTGCCCCTGGTGAAG	0.403000													3	86					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11520840	11520840	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11520840C>T	ENST00000262442.3	+	5	1085	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L339L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	339	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCCCTGCTCCACGTGGTCT	0.597000													12	88					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104080213	104080213	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:104080213T>A	ENST00000265148.3	-	22	2644	c.2555A>T	c.(2554-2556)aAa>aTa	p.K852I	CENPE_ENST00000380026.3_Missense_Mutation_p.K827I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	852					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGGGCTTCTTTAGAGAGATT	0.378000													4	35					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961601	68961601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:68961601C>T	ENST00000261778.1	+	13	2270	c.2258C>T	c.(2257-2259)gCc>gTc	p.A753V	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ACCCATGGAGCCTTTGCCACT	0.493000													17	187					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769183	247769183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247769183C>T	ENST00000320002.2	+	1	328	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTTGTGTGGCGCAACTCTAT	0.483000													22	195					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1520736	1520736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1520736C>T	ENST00000345913.4	+	15	2691	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	TPO_ENST00000329066.4_Missense_Mutation_p.S867L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.S810L|TPO_ENST00000346956.3_Missense_Mutation_p.S823L|TPO_ENST00000337415.3_Missense_Mutation_p.S867L|TPO_ENST00000382198.1_Missense_Mutation_p.S694L|TPO_ENST00000349624.3_Missense_Mutation_p.S694L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	867					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTCTCACCTCGACGGTGATT	0.537000													4	37					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537506	73537506	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:73537506T>C	ENST00000224721.6	+	38	4935	c.4930T>C	c.(4930-4932)Tat>Cat	p.Y1644H		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1639	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCAGCCCCACTATGAGGTGCT	0.582000													3	23					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112319689	112319689	+	Silent	SNP	C	C	T	rs148478583		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:112319689C>T	ENST00000369697.1	-	5	1737	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	KCND3_ENST00000315987.2_Silent_p.T575T|KCND3_ENST00000302127.4_Silent_p.T556T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	575						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGATGTGGATCGTGCTGAGCT	0.567000													7	47					0	0	1	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193280	90193280	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:90193280G>A	ENST00000390275.2	+	0	387																											CTAAGCTCCTGATCTATGATG	0.537000													5	156					0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288215	36288215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:36288215G>A	ENST00000539424.1	+	2	1726	c.61G>A	c.(61-63)Gga>Aga	p.G21R	TBC1D3F_ENST00000505415.1_Missense_Mutation_p.G101R|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.G101R|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.G101R			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	101						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						AGCGTACAAGGGAATGCCCAT	0.557000													33	407					0	0	1	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144761	1144761	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:1144761C>T	ENST00000328449.5	-	3	435	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	54						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GAGGCAGCCCCCTCCACAGGT	0.677000													9	60					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40673057	40673057	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40673057G>C	ENST00000343619.4	+	22	2556	c.2433G>C	c.(2431-2433)caG>caC	p.Q811H	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Q768H|ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Q762H|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Q457H|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Q811H|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Q805H|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q812H	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	811					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTGAGTTCCAGAATAAATTCT	0.468000													24	294					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178143	72178143	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:72178143C>T	ENST00000324262.4	+	6	868	c.552C>T	c.(550-552)ttC>ttT	p.F184F	CNDP2_ENST00000324301.8_Silent_p.F100F|CNDP2_ENST00000579847.1_Silent_p.F184F	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	184						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AAGACACATTCTTTAAGGATG	0.502000													10	124					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993543	21993543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21993543G>A	ENST00000327430.3	-	2	613	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	SALL2_ENST00000317492.5_Missense_Mutation_p.P107S|SALL2_ENST00000450879.2_Missense_Mutation_p.P105S|SALL2_ENST00000538754.1_Missense_Mutation_p.P105S	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	107							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGATCCGTGGGCACGGAGGAC	0.637000													13	82					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023626	28023626	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28023626T>A	ENST00000375790.5	-	5	1029	c.597A>T	c.(595-597)aaA>aaT	p.K199N	MKX_ENST00000419761.1_Missense_Mutation_p.K199N			Q8IYA7	MKX_HUMAN	mohawk homeobox	199					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCACTCCCGCTTTGATGACCG	0.488000													14	111					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202121	22202121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:22202121G>A	ENST00000344041.6	-	13	1175	c.863C>T	c.(862-864)tCa>tTa	p.S288L	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.S138L	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	138					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CGGAACGTCTGAGTTTTCCTC	0.343000													8	50					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505313	155505313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:155505313G>A	ENST00000302053.3	-	6	2642	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	855	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGCGAACAGCCCTGAGGGA	0.478000													4	86					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786566	113786566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113786566G>A	ENST00000259213.4	-	4	318	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	IL36B_ENST00000327407.2_Missense_Mutation_p.L71F	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	71					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.L71V(1)		kidney(1)|ovary(1)|pancreas(1)	3						AAGAGACAGAGATCTTTTCCC	0.418000													5	71					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401380	34401380	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34401380G>A	ENST00000373381.4	-	4	869	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	191	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGGCAGGGGGAAGTCCCACG	0.627000													5	52					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4703814	4703814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:4703814C>T	ENST00000354582.6	+	15	1650	c.1300C>T	c.(1300-1302)Ccg>Tcg	p.P434S	ITPR1_ENST00000423119.2_Missense_Mutation_p.P434S|ITPR1_ENST00000357086.4_Missense_Mutation_p.P434S|ITPR1_ENST00000443694.2_Missense_Mutation_p.P419S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.P419S|ITPR1_ENST00000456211.2_Missense_Mutation_p.P419S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	434	MIR 5.				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)		TGCCATAGTTCCGGTTTCTCC	0.507000													9	73					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782392	6782392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:6782392G>A	ENST00000297436.2	-	2	291	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	84					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGTCCCATAGGAATATTCTGT	0.443000													7	99					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901477	51901477	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:51901477G>A	ENST00000268919.4	+	1	1239	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	361	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G361G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATTTATGGGGGCAAGGTGT	0.463000													8	89					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821850	35821850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:35821850G>A	ENST00000337385.3	-	3	458	c.83C>T	c.(82-84)tCg>tTg	p.S28L	KCNE1_ENST00000432085.1_Missense_Mutation_p.S28L|KCNE1_ENST00000416357.2_Missense_Mutation_p.S28L|KCNE1_ENST00000399289.3_Missense_Mutation_p.S28L|KCNE1_ENST00000399286.2_Missense_Mutation_p.S28L|KCNE1_ENST00000399284.1_Missense_Mutation_p.S28L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	28					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGCCAGGCCCGACATGTTGCC	0.607000													6	74					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712438	32712438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32712438G>A	ENST00000265074.8	+	1	899	c.556G>A	c.(556-558)Gag>Aag	p.E186K	NPR3_ENST00000415167.2_Missense_Mutation_p.E186K|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	186					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CAAGATGGGCGAGATGATGCT	0.667000													5	47					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220088624	220088624	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:220088624C>T	ENST00000409618.1	-	9	1825	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R	ATG9A_ENST00000361242.4_Silent_p.R462R|ATG9A_ENST00000396761.2_Silent_p.R462R|ATG9A_ENST00000409422.1_Silent_p.R401R			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	462					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAACTCGTCCCGGGTCTGCG	0.612000													13	156					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373000													4	94					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263050	140263050	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140263050C>T	ENST00000289272.2	+	1	1197	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S399S|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGTCCACCTACAAGA	0.587000													17	279					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72955945	72955945	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72955945G>A	ENST00000261180.4	+	8	1750	c.1653_splice	c.e8-1	p.D552_splice	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	552					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTCTTGTAGGATTATTTAAC	0.264000													3	32					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684051	6684051	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6684051C>T	ENST00000321535.4	+	2	994	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	288										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGAACTTCTTCTTTGAACGGA	0.537000													3	44					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891505	2891505	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:2891505G>A	ENST00000254528.3	+	4	1539	c.1380G>A	c.(1378-1380)acG>acA	p.T460T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	460					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCAATGTGACGGAGAAGAACG	0.448000													23	150					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604312	3604312	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3604312G>A	ENST00000301749.7	-	0	2603				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCCTAACGGTGTTGCCCTG	0.592000													4	37					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55742462	55742462	+	Silent	SNP	G	G	A	rs145991721		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:55742462G>A	ENST00000321149.3	-	6	1108	c.741C>T	c.(739-741)ttC>ttT	p.F247F	DYX1C1_ENST00000348518.3_Silent_p.F247F|DYX1C1_ENST00000448430.2_Silent_p.F247F|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Silent_p.F247F|DYX1C1_ENST00000457155.2_Silent_p.F247F	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	247					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GAGCTGTTGGGAATACTCGAG	0.348000													9	95					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181741296	181741296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:181741296G>A	ENST00000526775.1	+	36	5176	c.5011G>A	c.(5011-5013)Gag>Aag	p.E1671K	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1622K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1297K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1641K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1690K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1690K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1671K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1690					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1690K(2)		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						AGGGCAGAACGAGAACGAACG	0.557000													8	150					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102846	22102846	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22102846G>A	ENST00000542433.1	-	1	250	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCACATGGTGAGCAGAATGA	0.532000													7	77					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776630	137776630	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:137776630G>A	ENST00000242375.3	+	3	420	c.378_splice	c.e3+1	p.K126_splice	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Splice_Site_p.K126_splice|AKR1D1_ENST00000432161.1_Splice_Site_p.K126_splice	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	126					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGCCTTTAAGGTGAGTTCAG	0.512000													9	104					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106166531	106166531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:106166531G>A	ENST00000369704.3	+	15	2370	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	746										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGGTGGTTGAAAAAGAGCT	0.458000													7	83					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513754	99513754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:99513754G>A	ENST00000261037.3	+	5	1389	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G337R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	337	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGGGAGCAAGGACTGCCAGG	0.637000													9	39					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073120	17073120	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:17073120G>A	ENST00000359963.3	-	1	580	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	107					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.F107F(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGAACCACGAAGGCTGTGC	0.662000													4	88					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351798	57351798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:57351798G>A	ENST00000361249.3	+	7	1150	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	352	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGCATTTATGAATATATCCT	0.413000													6	77					0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:124979498G>T	ENST00000394319.4	-	5	635	c.531C>A	c.(529-531)cgC>cgA	p.R177R	LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000373755.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000541397.2_Silent_p.R166R	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	148	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667000													16	77					3.41278e-10	3.45314e-10	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54786858	54786858	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54786858C>T	ENST00000545554.1	+	19	4986	c.4986C>T	c.(4984-4986)ttC>ttT	p.F1662F	UNC13C_ENST00000260323.11_Silent_p.F1662F|UNC13C_ENST00000537900.1_Silent_p.F1660F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1662	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTGCATTTCAAAGTTAAAT	0.328000													5	70					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249759	110249759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:110249759G>A	ENST00000374672.4	-	3	1389	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	306	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGCCCCAGGGGGAAGTCGTGT	0.682000													4	17					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304435	3304435	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3304435C>T	ENST00000219596.1	-	2	672	c.633G>A	c.(631-633)ggG>ggA	p.G211G	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	211					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTGCAGCCTCCCCGCGGAGC	0.741000													5	22					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14756823	14756823	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:14756823G>A	ENST00000253697.3	+	9	1793	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	C3orf20_ENST00000435614.1_Silent_p.E325E|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Silent_p.E325E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	447						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTTGGATGAGGAAGGTGGGA	0.537000													3	32					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869526	4869526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4869526C>T	ENST00000322101.2	-	1	988	c.913G>A	c.(913-915)Gag>Aag	p.E305K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	305					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)		TTTCTAATCTCCTTCATCTTG	0.468000													6	70					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429843	135429843	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:135429843A>G	ENST00000394143.1	+	6	4269	c.3978A>G	c.(3976-3978)ggA>ggG	p.G1326G	GPR112_ENST00000287534.4_Silent_p.G1263G|GPR112_ENST00000370652.1_Silent_p.G1326G|GPR112_ENST00000394141.1_Silent_p.G1121G|GPR112_ENST00000412101.1_Silent_p.G1121G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1326					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)					CCTCTGATGGAAATTTGGCTT	0.443000													3	40					0	0	1	0	0
LSMEM1	286006	broad.mit.edu	37	7	112129885	112129885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:112129885G>A	ENST00000312849.4	+	4	638	c.277G>A	c.(277-279)Gat>Aat	p.D93N	LSMEM1_ENST00000439068.2_Missense_Mutation_p.D93N|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		AAACAAGATGGATGATGTGTC	0.388000													5	68					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274695	160274695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:160274695C>T	ENST00000264431.4	+	22	4084	c.3665C>T	c.(3664-3666)tCt>tTt	p.S1222F		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1222					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACAGTAATTTCTTCTCCAAGC	0.488000													6	92					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357116	36357116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36357116G>A	ENST00000360202.5	+	15	2047	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	KIRREL2_ENST00000586102.2_Missense_Mutation_p.E597K|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.E582K|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	617					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			GAGCCTTGGCGAAGCCCCTGG	0.607000													7	102					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158014139	158014139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158014139C>T	ENST00000359775.5	+	3	1415	c.526C>T	c.(526-528)Cct>Tct	p.P176S	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P176S			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	176						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TTTCCGGCCCCCTCGCGCCTC	0.597000													9	71					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842714	123842714	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:123842714C>T	ENST00000369005.1	+	4	1039	c.699C>T	c.(697-699)ggC>ggT	p.G233G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G233G|TACC2_ENST00000515603.1_Silent_p.G233G|TACC2_ENST00000334433.3_Silent_p.G233G|TACC2_ENST00000453444.2_Silent_p.G233G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	233						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)				CTGCAGGTGGCTTTCCCCCTG	0.627000													6	36					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143197	56143197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56143197C>T	ENST00000302270.1	+	1	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTATTCTTATCCATCTACCTC	0.453000													8	72					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736296	4736296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4736296C>T	ENST00000545990.2	-	5	2296	c.1772G>A	c.(1771-1773)aGg>aAg	p.R591K	AKAP3_ENST00000228850.1_Missense_Mutation_p.R591K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	591					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R591M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAAAACACTCCTTAGGTCCTT	0.463000													10	112					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12907865C>T	ENST00000317869.6	-	2	503	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACCTGCGTTTCCTCGGTTCAC	0.483000													6	169					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748367	102748367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:102748367G>A	ENST00000370228.1	+	1	585	c.400G>A	c.(400-402)Gat>Aat	p.D134N	C10orf2_ENST00000311916.2_Missense_Mutation_p.D134N|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	134					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGGCGAGGGGATGGGGCCAG	0.592000													23	265					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926783	130926783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:130926783C>T	ENST00000261655.4	-	8	1226	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E263K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E263K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	355	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGAGCTTCTCGATGAGGGCT	0.612000													8	91					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130465694	130465694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:130465694C>T	ENST00000368134.2	-	14	2142	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E536K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E512K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E512K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	512										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AATCCTACTTCGTTTTCCTTT	0.368000													4	34					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24985893	24985893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:24985893G>A	ENST00000318753.8	-	2	225	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	68																	ATATCAGGAAGGAGGGTCCTC	0.607000													3	23					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90280818	90280818	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90280818C>T	ENST00000268130.7	+	15	1724	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR93_ENST00000560294.1_Silent_p.S513S|WDR93_ENST00000444934.2_Silent_p.S258S	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	541					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATCTTTTCCAAGAATGGCT	0.557000													16	170					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69520803	69520803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69520803G>A	ENST00000341516.5	-	9	2747	c.2600C>T	c.(2599-2601)aCt>aTt	p.T867I	DCAF5_ENST00000557386.1_Missense_Mutation_p.T866I|DCAF5_ENST00000556847.1_Missense_Mutation_p.T785I|DCAF5_ENST00000554215.1_Missense_Mutation_p.T785I	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	867						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATCACGGTCAGTGTCTGAGTG	0.562000													9	63					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78942989	78942989	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:78942989G>A	ENST00000545128.1	+	32	4861	c.4323G>A	c.(4321-4323)ctG>ctA	p.L1441L		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGAAAGGCCTGATCATGAACC	0.587000													55	344					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299509	125299509	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:125299509G>A	ENST00000538699.1	-	2	479	c.399C>T	c.(397-399)atC>atT	p.I133I	DCAF12L2_ENST00000360028.2_Silent_p.I133I	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	133										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCATGAGGGGGATGCGCGTGA	0.642000													11	63					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295276	29295276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29295276C>T	ENST00000331664.5	-	1	1851	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	618					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGACTGAGGTCCCTCTGGACC	0.632000													6	31					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306799	46306799	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46306799T>C	ENST00000397850.2	-	16	2551	c.2099A>G	c.(2098-2100)aAc>aGc	p.N700S	ITGB2_ENST00000302347.5_Missense_Mutation_p.N700S|ITGB2_ENST00000355153.4_Missense_Mutation_p.N700S|ITGB2_ENST00000397854.3_Missense_Mutation_p.N643S|ITGB2_ENST00000397857.1_Missense_Mutation_p.N700S|ITGB2_ENST00000397852.1_Missense_Mutation_p.N700S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	700					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCGGCGATGTTGGGGCCTGC	0.642000													6	54					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884953	15884953	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15884953G>A	ENST00000587443.2	-	0	376					NR_033864.1																						GTCAGCATCCGACGGTGGCGG	0.552000													3	21					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532375	92532375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:92532375G>A	ENST00000298047.6	+	9	6213	c.6196G>A	c.(6196-6198)Gcc>Acc	p.A2066T	FAT3_ENST00000409404.2_Missense_Mutation_p.A2066T|FAT3_ENST00000525166.1_Missense_Mutation_p.A1916T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2066	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCGTGTGGCCAGAGTGGT	0.512000										TCGA Ovarian(4;0.039)			7	42					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819258	159819258	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:159819258G>A	ENST00000497452.1	-	0	517																											CTAATGCCATGATTTACAATA	0.353000													10	177					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180967	142180967	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142180967C>T	ENST00000390368.2	-	0	49																											TGCTGCATGACGGAGGGGTCT	0.577000													3	47					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691234	7691234	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7691234C>T	ENST00000572933.1	+	43	8120	c.6660C>T	c.(6658-6660)tcC>tcT	p.S2220S	DNAH2_ENST00000389173.2_Silent_p.S2220S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2220	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACTGTATCCCGCTGCGGGA	0.532000													6	49					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11354310	11354310	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:11354310G>A	ENST00000227756.4	-	8	1758	c.1347C>T	c.(1345-1347)acC>acT	p.T449T		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		ACCACCGGAAGGTCTTGCACT	0.547000													10	84					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349794	41349794	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41349794G>A	ENST00000301141.5	-	9	1412	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	464					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GTGACTGGGAGGACTTGAGGC	0.567000													17	107					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167478	64167478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:64167478C>T	ENST00000395391.1	+	4	2171	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.H266Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.H266Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAGAATTCATGCTGGGGA	0.358000													6	32					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107049075	107049075	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:107049075C>T	ENST00000390627.2	-	0	266																											CATGAATCACCTTTTAAAATA	0.443000													27	193					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142841169	142841169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142841169C>T	ENST00000309575.3	+	2	2895	c.1511C>T	c.(1510-1512)gCc>gTc	p.A504V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	504					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAGCCCATGGCCGTCCTGGGC	0.607000													5	75					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32740822	32740822	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:32740822C>T	ENST00000545067.1	+	2	548	c.252C>T	c.(250-252)atC>atT	p.I84I	CCDC7_ENST00000362006.5_Silent_p.I84I|CCDC7_ENST00000535327.1_Silent_p.I84I|CCDC7_ENST00000537047.1_Silent_p.I84I|CCDC7_ENST00000539197.1_Silent_p.I84I|CCDC7_ENST00000277657.6_Silent_p.I84I			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	84										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGAAATGATCGGAAAAATTA	0.438000													5	25					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428937	190428937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:190428937G>A	ENST00000261024.2	-	7	1201	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	259					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCCTCCAGGGGTTTTGGCTCA	0.408000													4	82					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794359	15794359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15794359G>A	ENST00000550308.1	+	7	1084	c.704G>A	c.(703-705)aGa>aAa	p.R235K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R235K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTAGAGAAAAGAAGCCAGCAT	0.542000													8	92					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596017	140596017	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140596017C>T	ENST00000341948.4	+	1	2509	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		774					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)			TCCCCAACTTCCCTCCCCAGT	0.478000													10	108					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196726633	196726633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196726633C>T	ENST00000312428.6	-	42	7644	c.7544G>A	c.(7543-7545)cGa>cAa	p.R2515Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4 (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						TTCCAAGAATCGTGAGGCAAC	0.378000													5	41					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752532	19752532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:19752532C>T	ENST00000400113.3	-	3	333	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	77					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGCGCACTTCATCTACAAAA	0.473000													4	76					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003902	34003902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:34003902C>T	ENST00000374181.3	-	8	2154	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	GRM4_ENST00000545715.1_Missense_Mutation_p.G354E|GRM4_ENST00000544773.1_Missense_Mutation_p.G493E|GRM4_ENST00000535756.1_Missense_Mutation_p.G529E|GRM4_ENST00000455714.2_Missense_Mutation_p.G522E|GRM4_ENST00000538487.1_Missense_Mutation_p.G662E|GRM4_ENST00000374177.3_Missense_Mutation_p.G546E	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	662					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GATGCTCATCCCTAGTCCCAG	0.607000													7	92					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665662	8665662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:8665662G>A	ENST00000378641.3	+	10	1421	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E316K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E316K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	316	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGATTTGAATGAAGACATGTC	0.418000													17	170					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477392	88477392	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:88477392C>T	ENST00000267549.3	+	2	759	c.201C>T	c.(199-201)ctC>ctT	p.L67L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	67					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CATTAACTCTCCCTTTATGGA	0.388000													11	92					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132273898	132273898	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:132273898C>T	ENST00000438378.2	+	0	1392					NR_026922.1																						GCCGCTGTCCCGAGGTTCATC	0.602000													4	19					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598248	31598248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31598248C>T	ENST00000379416.3	-	15	1648	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	534					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCACTCACGTCTTCCAGGTTC	0.542000													11	168					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246577	164246577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:164246577C>T	ENST00000296533.2	-	3	1564	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	NPY1R_ENST00000509586.1_Missense_Mutation_p.D102N	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	345					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATAATCATCATCCCGAGAC	0.398000													6	114					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138878534	138878534	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:138878534G>A	ENST00000370557.1	-	12	2131	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ATP11C_ENST00000327569.3_Silent_p.F371F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.F371F|ATP11C_ENST00000370543.1_Silent_p.F371F|ATP11C_ENST00000361648.2_Silent_p.F371F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	371					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCCCAAGAATTTCTGCA	0.368000													3	30					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372307	76372307	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76372307C>T	ENST00000407242.2	-	3	572	c.330G>A	c.(328-330)gcG>gcA	p.A110A	LRRC32_ENST00000260061.5_Silent_p.A110A|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.A110A|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	110						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGGCCATCGCCAGCCGGT	0.672000													3	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065032	9065032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9065032G>A	ENST00000397910.4	-	3	22617	c.22414C>T	c.(22414-22416)Cat>Tat	p.H7472Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7474	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						GAGAAAGGATGAATTTTCTCC	0.483000													11	104					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896193	84896193	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:84896193T>C	ENST00000403245.3	-	12	1372	c.1258A>G	c.(1258-1260)Aat>Gat	p.N420D	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.N344D	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	420					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATACTCTCATTTGTGGTCTTT	0.333000													17	186					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016404	161016404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161016404C>T	ENST00000447678.1	-	22	3571	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K	LPA_ENST00000316300.5_Missense_Mutation_p.E1151K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3659	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAAGAAGCCTCTGTGCTTGGA	0.493000													9	99					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518262	108518262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:108518262G>A	ENST00000375915.2	-	1	821	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	228						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGTGTGTAGGAATTACAAAA	0.567000													12	172					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124105836	124105836	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124105836C>T	ENST00000287380.1	+	5	615	c.525C>T	c.(523-525)ttC>ttT	p.F175F	TBC1D31_ENST00000378080.2_Silent_p.F70F|TBC1D31_ENST00000327098.5_Silent_p.F175F|TBC1D31_ENST00000309336.3_Silent_p.F175F|TBC1D31_ENST00000521676.1_Silent_p.F70F|TBC1D31_ENST00000522420.1_Silent_p.F70F	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CTTAGGTTTTCTTTCTACCAT	0.299000													9	62					0	0	1	0	0
RWDD1	51389	broad.mit.edu	37	6	116914170	116914170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116914170C>T	ENST00000466444.2	+	7	854	c.638C>T	c.(637-639)tCt>tTt	p.S213F	RWDD1_ENST00000392526.1_Missense_Mutation_p.S117F|RWDD1_ENST00000487832.2_Missense_Mutation_p.S117F	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	213							protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		GTAGATGAGTCTTTGTTCCAA	0.393000													3	60					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247118	19247118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:19247118G>A	ENST00000527884.1	-	12	2303	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	E2F8_ENST00000250024.4_Missense_Mutation_p.P691S|E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	691					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAAGAGGGAAAATTAACA	0.478000													13	112					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224170	23224170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23224170G>A	ENST00000300061.2	+	10	1529	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	462				EWT -> DGH (in Ref. 5; AAC50758).	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTAAAGAGTGGACACTAACCA	0.597000													8	102					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707456	137707456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:137707456C>T	ENST00000371817.3	+	51	4463	c.4049C>T	c.(4048-4050)cCc>cTc	p.P1350L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1350	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTGGCCCCCCCGGAGAGCCT	0.627000													5	20					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486981	20486981	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20486981C>T	ENST00000573854.1	+	8	1098	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ACSM2A_ENST00000417235.2_Silent_p.F249F|ACSM2A_ENST00000219054.6_Silent_p.F328F|ACSM2A_ENST00000396104.2_Silent_p.F328F|ACSM2A_ENST00000536134.1_Silent_p.F100F|ACSM2A_ENST00000575690.1_Silent_p.F328F|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTTACAAGTTCCCCCATCTAC	0.512000													9	112					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781589	83781589	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:83781589C>T	ENST00000322019.9	+	2	407	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	TM6SF1_ENST00000379390.6_Silent_p.L45L|TM6SF1_ENST00000565774.1_Silent_p.L45L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Silent_p.L45L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	45						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CATCCTGTTCCTGGTAGCACT	0.493000													17	141					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115085432	115085432	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:115085432T>C	ENST00000542447.2	-	7	1018	c.890A>G	c.(889-891)aAc>aGc	p.N297S	CADM1_ENST00000536727.1_Missense_Mutation_p.N297S|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.N297S|CADM1_ENST00000331581.6_Missense_Mutation_p.N297S|CADM1_ENST00000452722.2_Missense_Mutation_p.N297S	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	297	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GATGAACAGGTTGGGCCCAGA	0.473000													8	99					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055817	154055817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:154055817C>T	ENST00000389740.2	-	4	1966	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	623						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCACAAATTTCAAGAACCTCC	0.428000													6	55					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614472	247614472	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247614472G>A	ENST00000318749.6	-	1	836	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCTCTTGGGAGTAGCTGG	0.493000													14	154					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	430694	430694	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:430694G>A	ENST00000264554.6	-	9	1163	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	388	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTACCGGTGGACCCCACGT	0.627000													3	28					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567436	5567436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:5567436G>A	ENST00000315238.1	+	1	513	c.388G>A	c.(388-390)Gac>Aac	p.D130N	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	130	EF-hand 4.						calcium ion binding	p.D130N(1)		endometrium(3)|lung(2)	5						CCGGGCCGCGGACACGGACGG	0.682000													4	63					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036463	32036463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32036463G>A	ENST00000375244.3	-	17	6125	c.5924C>T	c.(5923-5925)tCa>tTa	p.S1975L	TNXB_ENST00000375247.2_Missense_Mutation_p.S1975L			P22105	TENX_HUMAN	tenascin XB	2057	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGAGGTTCTGAAGGCTTCTC	0.642000													4	88					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617180	77617180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77617180C>T	ENST00000521891.2	+	2	1305	c.857C>T	c.(856-858)tCt>tTt	p.S286F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S286F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S286F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S286F|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAAGTTGTCTTTTGGTTAT	0.428000										HNSCC(33;0.089)			7	57					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725803	45725803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:45725803G>A	ENST00000327619.5	+	9	1258	c.884G>A	c.(883-885)gGg>gAg	p.G295E	EYA2_ENST00000317304.6_Missense_Mutation_p.G295E|EYA2_ENST00000357410.3_Missense_Mutation_p.G295E	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	295					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCCAGATACGGGAAGGTAAGA	0.423000													15	166					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861650	52861650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:52861650G>A	ENST00000343457.3	-	4	1544	c.1538C>T	c.(1537-1539)cCa>cTa	p.P513L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	513						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACCGGCATGTGGATGTCTCTG	0.527000													8	142					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1519997	1519997	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1519997T>C	ENST00000571650.1	-	3	533	c.227A>G	c.(226-228)aAc>aGc	p.N76S	SLC43A2_ENST00000301335.4_Missense_Mutation_p.N76S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.N76S			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	76					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAGCCAGCCGTTCATCCAGCT	0.602000													7	57					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429196	48429196	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:48429196C>T	ENST00000224605.2	-	2	955	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	230					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCCCCGGGTCCCTCTCCTCAG	0.687000													3	24					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984484	51984484	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:51984484A>G	ENST00000220478.3	+	7	1222	c.819A>G	c.(817-819)gaA>gaG	p.E273E	SCG3_ENST00000542355.2_Silent_p.E41E	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	273				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTTTGAGGAACTCCAATATT	0.383000													4	79					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829798	72829798	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72829798G>A	ENST00000268489.5	-	9	7455	c.6783C>T	c.(6781-6783)ttC>ttT	p.F2261F	ZFHX3_ENST00000397992.5_Silent_p.F1347F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2261					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CATTGGCATCGAAGAAGTCCT	0.493000													24	257					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143092430	143092430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143092430C>T	ENST00000275815.3	-	12	2151	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	689	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACGACGCCTTCCAGATGCAGA	0.547000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	874					0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21162055	21162055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21162055C>T	ENST00000336811.6	+	2	932	c.332C>T	c.(331-333)tCc>tTc	p.S111F	RP11-903H12.3_ENST00000554286.1_lincRNA|ANG_ENST00000554073.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.S111F|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555597.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	111					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGGAGGTTCCCCCTGGCCT	0.478000													10	97					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276383	63276383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63276383G>A	ENST00000415491.2	+	2	789	c.175G>A	c.(175-177)Gag>Aag	p.E59K	LGALS12_ENST00000394618.3_Missense_Mutation_p.E120K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E120K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E59K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E121K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	120	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGGCAAAGGGAGGCCCGGTG	0.602000													11	69					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324428	24324428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24324428C>T	ENST00000175238.6	+	6	589	c.506C>T	c.(505-507)tCc>tTc	p.S169F	ADAM7_ENST00000380789.1_Missense_Mutation_p.S169F|ADAM7_ENST00000441335.2_Missense_Mutation_p.S169F|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	169					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAATTATTCCTGTACAGAG	0.373000													5	123					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486970	48486970	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:48486970C>T	ENST00000273861.4	+	2	831	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	204						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCATCTCCTCCACGCTTCTGG	0.507000													9	294					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215090	97215090	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:97215090G>A	ENST00000357485.3	+	3	231	c.153G>A	c.(151-153)gaG>gaA	p.E51E	ARID5A_ENST00000454558.2_5'UTR	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	51					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						agcgggaggaggagcaggagc	0.647000													10	104					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476201	17476201	+	Missense_Mutation	SNP	C	C	T	rs146532352		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17476201C>T	ENST00000252590.4	-	3	1134	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	358						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGTTGTCTCGTTCCTTCCG	0.622000													8	109					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47389690	47389690	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47389690T>C	ENST00000285039.7	-	29	4150	c.3851A>G	c.(3850-3852)aAc>aGc	p.N1284S	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.N425S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1284					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCATTAATGTTCGGCTCCTA	0.428000													5	83					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24135197	24135197	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24135197G>A	ENST00000303531.7	+	9	1112	c.960G>A	c.(958-960)aaG>aaA	p.K320K	PRKCB_ENST00000321728.7_Silent_p.K320K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	320					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)	CGGAAGAAAAGACGACCAACA	0.478000													6	55					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124632455	124632455	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:124632455G>C	ENST00000311075.3	-	7	1073	c.1035C>G	c.(1033-1035)tgC>tgG	p.C345W		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	345	EGF-like 2.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGTCAGATTTGCAATCGCATG	0.423000													14	92					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885825	88885825	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:88885825C>T	ENST00000319675.3	-	1	471	c.375G>A	c.(373-375)cgG>cgA	p.R125R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	125										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATTCACCTTCCGATTAGGGA	0.562000													12	101					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19918599	19918599	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19918599G>A	ENST00000400519.1	-	2	122	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TXNRD2_ENST00000400521.1_Silent_p.L42L|TXNRD2_ENST00000400525.1_Intron|TXNRD2_ENST00000400518.1_Silent_p.L12L|TXNRD2_ENST00000334363.9_Silent_p.L42L|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Silent_p.L12L|TXNRD2_ENST00000535882.1_Silent_p.L41L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	42					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CGACCACCAGGAGATCATAGT	0.537000													17	157					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160523210	160523210	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160523210G>A	ENST00000368054.3	-	4	753	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	CD84_ENST00000368048.3_Silent_p.L240L|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Silent_p.L126L|CD84_ENST00000368051.3_Silent_p.L240L|CD84_ENST00000311224.4_Silent_p.L240L	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	240					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGAAGACAGAATGAGAACA	0.468000													3	47					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54040124	54040124	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:54040124A>T	ENST00000185150.4	+	11	1271	c.1140A>T	c.(1138-1140)acA>acT	p.T380T	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Silent_p.T326T|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Silent_p.T380T	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	380	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTGTCGGGACATGGAACCAAG	0.393000													4	69					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114102	66114102	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66114102G>A	ENST00000311181.4	-	1	1061	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	305					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCGGCAGGTTGACCCAGCGGG	0.627000													8	86					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1341166	1341166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1341166G>A	ENST00000482352.1	-	3	371	c.299C>T	c.(298-300)cCa>cTa	p.P100L	MRPL20_ENST00000344843.7_Intron|MRPL20_ENST00000493287.1_Intron			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	0							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAATTTCAGTGGGACCCACAT	0.512000													29	150					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323769	107323769	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107323769C>T	ENST00000265715.3	+	7	1112	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	296					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.I296I(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACACAAAATCCCAGTCCCTA	0.353000									Pendred syndrome				6	111					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994241	91994241	+	Missense_Mutation	SNP	G	G	A	rs148535806		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:91994241G>A	ENST00000450295.1	-	16	2743	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P656L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P656L|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P656L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	656					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGACAAGGTGGGGGCCACTAC	0.567000													25	265					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65219644	65219644	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:65219644C>T	ENST00000442266.1	+	0	282																											CTCTACATTTCTGAAGTATGC	0.448000													7	64					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011769	34011769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34011769G>A	ENST00000373381.4	-	57	9144	c.8968C>T	c.(8968-8970)Cgt>Tgt	p.R2990C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2963	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCCCAAACGGATGCCATGA	0.567000													8	75					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366878	10366878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10366878G>A	ENST00000255381.2	-	8	841	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	244	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGCGAGAGGAGTTGTCATT	0.438000													10	92					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312854	52312854	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52312854G>A	ENST00000550683.1	+	8	1475	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	ACVRL1_ENST00000419526.2_Silent_p.V270V|ACVRL1_ENST00000388922.4_Silent_p.V444V	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	444	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGTGTGTGTGGATCAGCAGA	0.577000													6	92					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049005	9049005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9049005C>T	ENST00000397910.4	-	5	32829	c.32626G>A	c.(32626-32628)Gga>Aga	p.G10876R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10878	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						GTCACTACTCCTGGTACCTCA	0.468000													15	70					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92191504	92191504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92191504C>T	ENST00000256343.3	-	3	244	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	30					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGCGTTTCTCTGTATCATCT	0.289000													3	32					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478688	128478688	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128478688C>T	ENST00000325888.8	+	8	1503	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	FLNC_ENST00000346177.6_Silent_p.I414I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	414					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTGGTGATCGTGGACCCAC	0.657000													17	230					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692664	47692664	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:47692664G>T	ENST00000397708.1	-	9	2530	c.2276C>A	c.(2275-2277)gCc>gAc	p.A759D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A759D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	759					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CATGAAGTGGGCACAGTGGAT	0.557000													9	115					5.16669e-11	5.23283e-11	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819321	159819321	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:159819321G>A	ENST00000497452.1	-	0	517																											ACTCAGGGATGAAAATTCTTA	0.388000													15	147					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868229	23868229	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23868229G>A	ENST00000405093.3	-	15	1669	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S	MYH6_ENST00000356287.3_Silent_p.S533S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	533	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCCAGGATGGACATGATGC	0.552000													4	101					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62192271	62192271	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:62192271G>A	ENST00000467148.1	-	15	7227	c.7158C>T	c.(7156-7158)ctC>ctT	p.L2386L	HELZ2_ENST00000427522.2_Silent_p.L1817L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGTGGTCTCCGAGAAGAACCA	0.627000													14	117					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139361533	139361533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:139361533G>A	ENST00000313050.7	-	4	3878	c.3805C>T	c.(3805-3807)Cca>Tca	p.P1269S	SEC16A_ENST00000290037.6_Missense_Mutation_p.P1091S|SEC16A_ENST00000371706.3_Missense_Mutation_p.P1091S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1091S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1091					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGTGACCTGGATCTGTGAGC	0.473000													14	55					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710730	52710730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52710730C>T	ENST00000293670.3	-	5	890	c.828G>A	c.(826-828)atG>atA	p.M276I		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	276	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGATGCAGTCCATGTTCAGGT	0.582000													6	193					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913806	67913806	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67913806T>C	ENST00000358933.5	+	16	2114	c.1875T>C	c.(1873-1875)agT>agC	p.S625S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	625	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagtagcagcagcT	0.597000													3	43					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072559	108072559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108072559G>A	ENST00000357759.5	+	4	764	c.350G>A	c.(349-351)gGa>gAa	p.G117E	HHLA2_ENST00000467562.1_Missense_Mutation_p.G53E|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117E|HHLA2_ENST00000489514.2_Missense_Mutation_p.G117E|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117E	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTGGACGAAGGAATTTACACC	0.403000													3	28					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273823	100273823	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100273823C>T	ENST00000510055.1	-	0	64				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACTTTTCCTGCTGTGCTCATA	0.323000													5	111					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309722	45309722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45309722G>A	ENST00000313237.5	-	5	961	c.811C>T	c.(811-813)Ccg>Tcg	p.P271S	PHF21B_ENST00000404079.2_Missense_Mutation_p.P217S|PHF21B_ENST00000403565.1_Missense_Mutation_p.P67S|PHF21B_ENST00000447824.3_Missense_Mutation_p.P217S|PHF21B_ENST00000396103.3_Missense_Mutation_p.P229S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	271							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TCCTGGGTCGGGGGCCGGTCT	0.662000													15	67					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1562737	1562737	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1562737G>A	ENST00000572621.1	-	31	5317	c.5052C>T	c.(5050-5052)ttC>ttT	p.F1684F	PRPF8_ENST00000304992.6_Silent_p.F1684F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1684	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTAGTCCAGGAACTTGGCCC	0.547000													25	246					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652922	40652922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40652922C>T	ENST00000343619.4	+	16	2000	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S583L|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S583L|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S272L|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S626L|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S626L|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S633L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	626					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCTGGTTATTCAATGTTGTAT	0.433000													14	148					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691242	35691242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35691242C>T	ENST00000440995.2	+	11	1628	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S543F|SPEF2_ENST00000509059.1_Missense_Mutation_p.S543F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	543					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTGAAAAATCTCTTCCTCCT	0.413000													7	108					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065737	9065737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9065737G>A	ENST00000397910.4	-	3	21912	c.21709C>T	c.(21709-21711)Cag>Tag	p.Q7237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7239	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						GACTCTTTCTGAATTCTGCTA	0.468000													8	129					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58287303	58287303	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:58287303G>A	ENST00000249750.4	-	5	1295	c.528C>T	c.(526-528)ccC>ccT	p.P176P	ALDH1A2_ENST00000347587.3_Silent_p.P176P|ALDH1A2_ENST00000559517.1_Silent_p.P80P|ALDH1A2_ENST00000537372.1_Silent_p.P155P|ALDH1A2_ENST00000558231.1_Silent_p.P147P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	176					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACACTCCAATGGGTTCATGTC	0.383000													6	124					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377445	86377445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:86377445C>T	ENST00000604798.1	-	7	1355	c.151G>A	c.(151-153)Gga>Aga	p.G51R	MGAT4C_ENST00000552435.2_Missense_Mutation_p.G51R|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G51R|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G51R|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G80R|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G51R|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G51R			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	51					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTTGTCTCCTTCCTAAATA	0.303000													5	85					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103308007	103308007	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:103308007G>A	ENST00000520539.1	-	29	4275	c.3669C>T	c.(3667-3669)ctC>ctT	p.L1223L	UBR5_ENST00000521922.1_Silent_p.L1217L|UBR5_ENST00000220959.4_Silent_p.L1223L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1223					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGTCCGTTTGAGTCTATAGA	0.338000													4	31					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447896	19447896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:19447896G>A	ENST00000375267.2	-	68	9931	c.9928C>T	c.(9928-9930)Ctt>Ttt	p.L3310F	UBR4_ENST00000375254.3_Missense_Mutation_p.L3310F|UBR4_ENST00000375226.2_Missense_Mutation_p.L3286F|UBR4_ENST00000375217.2_Missense_Mutation_p.L3303F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3310					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATCCACAAGGAAACTGACT	0.582000													3	71					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591711	138591711	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138591711C>T	ENST00000440172.1	-	6	3462	c.3414G>A	c.(3412-3414)gtG>gtA	p.V1138V	KIAA1549_ENST00000422774.1_Silent_p.V1138V|KIAA1549_ENST00000242365.4_Silent_p.V1088V	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1138						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACTGAACTCCACCACACTCA	0.537000			O	BRAF	pilocytic astrocytoma								6	140					0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729854	20729854	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:20729854T>A	ENST00000454608.2	-	6	325	c.326A>T	c.(325-327)aAg>aTg	p.K109M						ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GTCCTGCATCTTCTCCAGCAG	0.597000													5	42					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023945	76023945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:76023945C>T	ENST00000393004.2	-	5	1824	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M	FILIP1_ENST00000370020.1_Missense_Mutation_p.V436M|FILIP1_ENST00000237172.7_Missense_Mutation_p.V535M|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	535										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTTGTTCCACCTTAAAATTT	0.294000													3	23					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458322	16458322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16458322G>A	ENST00000358432.5	-	14	2523	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	790	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTCCGGTAGGAAATGGCCTC	0.632000													3	48					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32397417	32397417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32397417G>A	ENST00000265069.8	-	10	1843	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	581					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CAATGGAACCGAATTACTTTT	0.343000													6	53					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262837	127262837	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:127262837G>A	ENST00000373588.4	-	4	598	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	134					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGTCCGGTGCGGGAGGGGGCG	0.711000													17	48					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19475128	19475128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19475128G>A	ENST00000396229.2	+	8	2016	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	TMC5_ENST00000564959.1_Missense_Mutation_p.E106K|TMC5_ENST00000561503.1_Missense_Mutation_p.E64K|TMC5_ENST00000541464.1_Missense_Mutation_p.E423K|TMC5_ENST00000381414.4_Missense_Mutation_p.E423K|TMC5_ENST00000219821.5_Missense_Mutation_p.E177K|TMC5_ENST00000542583.2_Missense_Mutation_p.E423K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	423						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCTGTCGGAAATTCTGAA	0.478000													5	71					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130494319	130494319	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:130494319G>A	ENST00000373284.5	-	5	1006	c.960C>T	c.(958-960)ttC>ttT	p.F320F	TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_3'UTR	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	320					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						AGAGTCAGAGGAAGAAGGCGA	0.607000													7	58					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160879358	160879358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:160879358C>T	ENST00000283243.7	-	7	1318	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.W371*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	371					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATAATATTTCCACGCATCTTT	0.348000													4	63					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7707604	7707604	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7707604G>A	ENST00000572933.1	+	59	10463	c.9003G>A	c.(9001-9003)ctG>ctA	p.L3001L	DNAH2_ENST00000389173.2_Silent_p.L3001L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3001	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGAGCTGCTGGCCCAAGCCA	0.557000													4	55					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113382387	113382387	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113382387G>A	ENST00000228928.7	+	3	746	c.567G>A	c.(565-567)agG>agA	p.R189R	OAS3_ENST00000548514.1_Silent_p.R189R|OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	189	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGCTGCGGAGGAACTTTGTGA	0.567000													8	81					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415170	57415170	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57415170G>A	ENST00000313949.7	+	1	398	c.9G>A	c.(7-9)cgG>cgA	p.R3R	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.R3R|GNAS_ENST00000371098.2_Silent_p.R3R|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0				C -> Y (in Ref. 8; AAH66923).	activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGATGGATCGGAGGTCCCGGG	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	76					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902820	22902820	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:22902820C>T	ENST00000166244.3	+	3	342	c.270C>T	c.(268-270)ccC>ccT	p.P90P	EPHA8_ENST00000538803.1_Silent_p.P90P|EPHA8_ENST00000374644.4_Silent_p.P90P	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	90						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTGGGTCCCCCGAGACGGCG	0.612000													7	83					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139726123	139726123	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139726123T>A	ENST00000263549.3	-	11	2527	c.1654A>T	c.(1654-1656)Aac>Tac	p.N552Y		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	552	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCCCTCCGTTCTGCTTCTGC	0.572000													24	140					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130363994	130363994	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:130363994A>G	ENST00000456951.1	-	6	1237	c.387_splice	c.e6+1	p.M129_splice	TSGA13_ENST00000356588.3_Splice_Site_p.M129_splice			Q96PP4	TSG13_HUMAN	testis specific, 13	129										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TCTGCTTACCATGACCTTGAG	0.428000													27	108					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31152341	31152341	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31152341C>T	ENST00000349752.5	-	11	1710	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	GALNT14_ENST00000356174.3_Silent_p.R324R|GALNT14_ENST00000420311.2_Silent_p.R322R|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.R362R|GALNT14_ENST00000406653.1_Silent_p.R337R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	357						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTCAGCTGTCCGCTTGGTGT	0.532000													15	61					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33271739	33271739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33271739G>A	ENST00000434618.2	-	7	1673	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	TAPBP_ENST00000475304.1_Missense_Mutation_p.S461L|TAPBP_ENST00000489157.1_Missense_Mutation_p.S356L|TAPBP_ENST00000426633.2_Missense_Mutation_p.S443L|TAPBP_ENST00000456592.2_Missense_Mutation_p.S443L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	443					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TACCTTCTTTGAATCCTTGCA	0.532000													16	110					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31155017	31155017	+	Silent	SNP	G	G	A	rs148988791	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31155017G>A	ENST00000349752.5	-	10	1614	c.975C>T	c.(973-975)atC>atT	p.I325I	GALNT14_ENST00000356174.3_Silent_p.I292I|GALNT14_ENST00000420311.2_Silent_p.I290I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I330I|GALNT14_ENST00000406653.1_Silent_p.I305I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	325	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCAGGGGACGATCTCTAGGC	0.557000													11	138					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513752	41513752	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:41513752T>C	ENST00000263253.7	+	2	1875	c.656T>C	c.(655-657)cTg>cCg	p.L219P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	219					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCAACTTACTGACTGAGCCT	0.517000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	42					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897539	5897539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:5897539C>T	ENST00000378961.4	+	3	368	c.164C>T	c.(163-165)cCt>cTt	p.P55L	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	55						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCATCACCCCTGAGTGCCGC	0.567000													14	127					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976448	43976448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43976448C>T	ENST00000262726.7	-	25	3377	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E890K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTCTTTTTCCTTGGGCTGA	0.502000													15	338					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783338	43783338	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43783338G>A	ENST00000372476.3	+	16	2803	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.K553K	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	908	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCTGTAAGAACCGAGGTG	0.557000													11	130					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918643	43918643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43918643G>A	ENST00000336086.6	-	4	2526	c.290C>T	c.(289-291)cCa>cTa	p.P97L	URGCP_ENST00000443736.1_Missense_Mutation_p.P97L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.P97L|URGCP_ENST00000453200.1_Missense_Mutation_p.P140L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.P97L|URGCP_ENST00000402306.3_Missense_Mutation_p.P131L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	140					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTGGCGTCTGGGAGCACGTC	0.547000													16	130					0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074273	46074273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46074273G>A	ENST00000391618.1	-	1	303	c.259C>T	c.(259-261)Cca>Tca	p.P87S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	87	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CCAGAGGTTGGGCAGAAGGAA	0.642000													4	69					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3665244	3665244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3665244C>T	ENST00000263087.4	-	4	378	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	94					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACGGTCACTCCCCGGTGCCTC	0.632000													4	42					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22747966	22747966	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22747966A>G	ENST00000454584.2	+	4	701	c.396A>G	c.(394-396)gaA>gaG	p.E132E	GAS2_ENST00000278187.3_Silent_p.E132E|GAS2_ENST00000433790.1_Silent_p.E132E	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	132	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GTCTATTTGAATCGGAAGGTT	0.378000													5	61					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6443402	6443402	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6443402C>T	ENST00000162749.2	-	2	347	c.48G>A	c.(46-48)ctG>ctA	p.L16L	TNFRSF1A_ENST00000540022.1_Silent_p.L16L|TNFRSF1A_ENST00000366159.4_Silent_p.L16L|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	16					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCAACAGCTCCAGGAGCACCT	0.517000													6	63					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327137	43327137	+	Missense_Mutation	SNP	G	G	A	rs146922306		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43327137G>A	ENST00000380486.3	-	10	1523	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	C2CD2_ENST00000329623.7_Missense_Mutation_p.R273C	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	428						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACGTCGACGCGAGGCTTGGTC	0.592000													17	87					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70877936	70877936	+	Missense_Mutation	SNP	G	G	A	rs149953250		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70877936G>A	ENST00000322773.4	+	38	2567	c.2465G>A	c.(2464-2466)cGa>cAa	p.R822Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.R444Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	822				GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTAATGAACGAAACGGCATG	0.284000													5	73					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113435491	113435491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113435491G>A	ENST00000392583.2	+	4	1001	c.794G>A	c.(793-795)tGg>tAg	p.W265*	OAS2_ENST00000342315.4_Nonsense_Mutation_p.W265*|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	265	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTATCTATTGGATGGTCAAC	0.502000													3	20					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955402	141955402	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141955402G>A	ENST00000552471.1	-	2	451	c.132C>T	c.(130-132)gtC>gtT	p.V44V	PRSS58_ENST00000547058.2_Silent_p.V44V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGTGGATCAGGACTCCAGCGC	0.493000													15	75					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864362	153864362	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:153864362G>C	ENST00000511601.1	+	2	341	c.153G>C	c.(151-153)agG>agC	p.R51S	FHDC1_ENST00000260008.3_Missense_Mutation_p.R51S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	51					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CATGTTCAAGGGAAGAGTGTC	0.612000													5	27					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20829176	20829176	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:20829176G>A	ENST00000601440.1	-	2	185	c.39C>T	c.(37-39)ttC>ttT	p.F13F	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Silent_p.F13F	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCTCCAGAGAGAATTCTATGG	0.423000													16	215					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:71318539C>T	ENST00000370932.2	-	3	1311	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000370931.3_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.E370K	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	361					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000													23	189					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953378	56953378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56953378G>A	ENST00000504904.3	-	7	1705	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ZNF667_ENST00000292069.6_Missense_Mutation_p.P329L|ZNF667_ENST00000342634.3_Missense_Mutation_p.P457L|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P329H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTTAAAAGGATTCTCTAA	0.363000													4	96					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133558	22133558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22133558G>A	ENST00000408935.1	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTGCTTTTAGAAAGAAAGAC	0.443000													16	201					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128487752	128487752	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128487752G>A	ENST00000325888.8	+	25	4551	c.4288_splice	c.e25-1	p.G1430_splice	FLNC_ENST00000346177.6_Splice_Site_p.G1430_splice	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1430					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCTCACAGGGAGCCCGTTCC	0.642000													8	131					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2753450	2753450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:2753450C>T	ENST00000515640.1	+	3	404	c.385C>T	c.(385-387)Cct>Tct	p.P129S	C5orf38_ENST00000505778.1_Missense_Mutation_p.P129S|C5orf38_ENST00000397835.4_Intron|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.P129S			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	129						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GATGGCTCCTCCTGAGCCGGC	0.647000													12	145					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449913	138449913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138449913C>T	ENST00000344876.4	-	2	2935	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	PCDH18_ENST00000412923.2_Missense_Mutation_p.R849Q|PCDH18_ENST00000507846.1_Missense_Mutation_p.R629Q|PCDH18_ENST00000511115.1_Missense_Mutation_p.R30Q|PCDH18_ENST00000510305.1_Missense_Mutation_p.R61Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	850					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTGTTTCCTCGAAAACTTGG	0.373000													5	95					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052357	44052357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:44052357G>A	ENST00000306006.6	-	2	1823	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ZNF239_ENST00000535642.1_Missense_Mutation_p.R391C|ZNF239_ENST00000374446.2_Missense_Mutation_p.R391C|ZNF239_ENST00000426961.1_Missense_Mutation_p.R391C	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGATGGATGCGAAGATCCGAG	0.522000													3	54					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547641	18547641	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18547641C>T	ENST00000545187.1	-	2	298	c.12G>A	c.(10-12)gcG>gcA	p.A4A	ISYNA1_ENST00000578963.1_Silent_p.A26A|ISYNA1_ENST00000457269.3_Silent_p.A100A|ISYNA1_ENST00000338128.7_Silent_p.A154A|ISYNA1_ENST00000317018.6_Intron			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	154					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCAGCACCTTCGCGCGCCGCA	0.697000													4	20					0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677831	62677831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:62677831C>T	ENST00000306960.3	-	2	1283	c.742G>A	c.(742-744)Gct>Act	p.A248T	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	248					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GAGCCCTCAGCCCCTGGCTGA	0.667000													6	30					0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991700	14991700	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:14991700G>A	ENST00000327462.2	-	1	564	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TTTGTGACAAGGAATTCAGGG	0.488000													11	109					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941065	52941065	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52941065G>A	ENST00000371544.3	-	13	2428	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	ZCCHC11_ENST00000257177.4_Silent_p.F722F|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	722					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTCTTTTCTTGAAATCCACTG	0.418000													21	130					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100282	121100282	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121100282C>T	ENST00000273666.6	+	23	2833	c.2562C>T	c.(2560-2562)ttC>ttT	p.F854F	STXBP5L_ENST00000497029.1_Silent_p.F828F|STXBP5L_ENST00000471454.1_Silent_p.F830F|STXBP5L_ENST00000492541.1_Silent_p.F854F|STXBP5L_ENST00000472879.1_Silent_p.F830F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	854					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTGTCTGTTCGTTGGAACCA	0.413000													16	169					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538048	55538048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55538048G>A	ENST00000220676.1	+	4	1754	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	536					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E536K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAAAAAAGGAAAACAGTCT	0.338000													5	42					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71008183	71008183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71008183G>A	ENST00000393567.2	-	33	5080	c.4930C>T	c.(4930-4932)Cgt>Tgt	p.R1644C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1644								p.R1643C(1)|p.R1595C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTTACACGATCTAGCTCA	0.428000													3	11					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973939	120973939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120973939G>A	ENST00000273666.6	+	16	1910	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	STXBP5L_ENST00000497029.1_Missense_Mutation_p.E547K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E547K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E547K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E547K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	547					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGCAGACATGAAATTACAAC	0.308000													3	38					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082537	152082537	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152082537C>A	ENST00000368804.1	-	2	3155	c.3156G>T	c.(3154-3156)gaG>gaT	p.E1052D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1052	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcctcttcctccCGATATT	0.577000													9	186					2.74318e-10	2.77629e-10	1	1	0
TACO1	51204	broad.mit.edu	37	17	61685285	61685285	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61685285C>T	ENST00000258975.6	+	5	1029	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	273					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						TGAGCCCGACCTGGAACAGGC	0.547000													7	99					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900501	76900501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76900501G>A	ENST00000409709.3	+	28	3888	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1206K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1195K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1206	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1206K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGCCCCCTCCGAGAAGTTTGT	0.622000													15	126					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242285599	242285599	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242285599C>T	ENST00000391973.2	+	10	1389	c.861C>T	c.(859-861)ctC>ctT	p.L287L	SEPT2_ENST00000407971.1_Silent_p.L247L|SEPT2_ENST00000391971.2_Silent_p.L287L|SEPT2_ENST00000402092.2_Silent_p.L287L|SEPT2_ENST00000401990.1_Silent_p.L297L|SEPT2_ENST00000360051.3_Silent_p.L287L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	287					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGCAGGATCTCCAGGAGGTGA	0.478000													8	71					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	208322	208322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:208322G>A	ENST00000538872.1	+	2	683	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	IQSEC3_ENST00000326261.4_Missense_Mutation_p.V189M|IQSEC3_ENST00000382841.2_5'UTR			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	189					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAATGAGACCGTGCTGCACCA	0.637000													4	37					0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153062007	153062007	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:153062007G>A	ENST00000320857.3	+	3	1270	c.186_splice	c.e3+1	p.Q62_splice	SSR4_ENST00000370087.1_Splice_Site_p.Q62_splice|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370085.3_Splice_Site_p.Q62_splice|SSR4_ENST00000370086.3_Splice_Site_p.Q62_splice	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	62					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGGTCCAGGTGAGACAGT	0.547000													27	89					0	0	1	0	0
C1orf100	200159	broad.mit.edu	37	1	244541927	244541927	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:244541927C>A	ENST00000308105.4	+	4	424	c.311C>A	c.(310-312)cCa>cAa	p.P104Q	RP11-518L10.5_ENST00000417765.1_RNA|C1orf100_ENST00000470211.1_3'UTR|C1orf100_ENST00000366537.1_Missense_Mutation_p.P72Q	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	104										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			TATTCTCTGCCATTTTATGAG	0.448000													9	108					1.61879e-10	1.63872e-10	1	1	0
SALL1	6299	broad.mit.edu	37	16	51174368	51174368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174368C>T	ENST00000440970.1	-	2	1905	c.1474G>A	c.(1474-1476)Ggc>Agc	p.G492S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G589S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	589					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTGACTGAGCCTGGGGGGCTG	0.637000													7	63					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587615	247587615	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247587615C>T	ENST00000366497.2	+	4	1650	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.I290I|NLRP3_ENST00000366496.2_Silent_p.I290I|NLRP3_ENST00000391827.2_Silent_p.I290I|NLRP3_ENST00000336119.3_Silent_p.I290I|NLRP3_ENST00000348069.2_Silent_p.I290I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	290	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCACAAGATCGTGAGAAAAC	0.562000													5	108					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39123099	39123099	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39123099G>A	ENST00000545173.2	+	5	460	c.384G>A	c.(382-384)ttG>ttA	p.L128L	EIF3K_ENST00000592558.1_Silent_p.L128L|EIF3K_ENST00000248342.4_Silent_p.L128L|EIF3K_ENST00000538434.1_Silent_p.L41L|EIF3K_ENST00000593149.1_Silent_p.L41L|EIF3K_ENST00000588934.1_Intron			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	128					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGACCTCTTGGAAGGTATAA	0.438000													12	222					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323748	49323748	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49323748C>T	ENST00000351842.4	-	15	1850	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	USP4_ENST00000265560.4_Silent_p.E661E	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	661					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCATTTCTTCCTCATCTTCTC	0.383000													4	39					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846559	20846559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20846559C>T	ENST00000262715.5	-	38	5528	c.5488G>A	c.(5488-5490)Gat>Aat	p.D1830N	TEP1_ENST00000556935.1_Missense_Mutation_p.D1722N|TEP1_ENST00000545983.1_Missense_Mutation_p.D168N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1830					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGAGCCCATCCACCTGGAAG	0.582000													4	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179391873	179391873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179391873C>T	ENST00000589042.1	-	363	108066	c.107842G>A	c.(107842-107844)Gaa>Aaa	p.E35948K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E34307K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26883K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E27075K|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E27008K|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E33380K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34307							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)			TCTGTGTTTTCAATGTGGAAC	0.463000													3	35					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370683	48370683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:48370683G>A	ENST00000395702.2	+	2	378	c.151G>A	c.(151-153)Gag>Aag	p.E51K	ZNF488_ENST00000586537.1_5'UTR|ZNF488_ENST00000494156.1_Missense_Mutation_p.E51K			Q96MN9	ZN488_HUMAN	zinc finger protein 488	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGTGCTGCTCGAGAAGACGAA	0.677000													9	104					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:23522420G>A	ENST00000296682.3	+	7	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428000										HNSCC(3;0.000094)			20	127					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993042	21993042	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21993042A>G	ENST00000327430.3	-	2	1114	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.F137L|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	274							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGGTGGAAGAAGGCCTGCTTG	0.602000													3	43					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1272063	1272063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1272063C>T	ENST00000444172.2	+	5	490	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CIRBP_ENST00000413636.2_Missense_Mutation_p.S138F|CIRBP_ENST00000587323.1_Missense_Mutation_p.S172F|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000588230.1_Missense_Mutation_p.S172F|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000587896.1_Missense_Mutation_p.S172F|CIRBP_ENST00000589710.1_Missense_Mutation_p.S172F|CIRBP_ENST00000320936.5_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	171	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCACACTCCGAGGGCGCC	0.592000													7	134					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:36039616C>T	ENST00000282507.3	-	5	1139	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_ENST00000545528.1_Silent_p.V44V|UGT3A2_ENST00000513300.1_Silent_p.V312V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000													11	119					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166024	71166024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:71166024G>A	ENST00000357585.2	+	2	935	c.566G>A	c.(565-567)gGg>gAg	p.G189E	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.G189E	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	189					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			AACCAGTGGGGGAGAAGCAGC	0.567000													4	62					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784425	15784425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15784425G>A	ENST00000550308.1	+	2	466	c.86G>A	c.(85-87)tGg>tAg	p.W29*	CYP4F12_ENST00000324632.9_Nonsense_Mutation_p.W29*	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTGGGCTCCTGGCTACTCGCC	0.627000													18	152					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183652216	183652216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:183652216C>T	ENST00000511685.1	+	16	3014	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P964L					teneurin transmembrane protein 3																		AGGCCAAATCCCATCATTGTG	0.418000													6	33					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49718605	49718605	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49718605C>T	ENST00000296456.5	+	15	1771	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	APEH_ENST00000438011.1_Silent_p.P457P	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	457					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGCCGAGCCCATTCCCGACA	0.592000													8	72					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57543590	57543590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:57543590C>T	ENST00000267811.5	+	14	1461	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	TCF12_ENST00000557843.1_Missense_Mutation_p.S386F|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Missense_Mutation_p.S386F|TCF12_ENST00000343827.3_Missense_Mutation_p.S216F|TCF12_ENST00000452095.2_Missense_Mutation_p.S382F|TCF12_ENST00000559703.1_Missense_Mutation_p.S20F|TCF12_ENST00000537840.1_Missense_Mutation_p.S150F|TCF12_ENST00000543579.1_Missense_Mutation_p.S216F|TCF12_ENST00000559710.1_Missense_Mutation_p.S20F|TCF12_ENST00000438423.2_Missense_Mutation_p.S386F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	386					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCACCTTCATCCCCAAGCTAT	0.438000			T	TEC	extraskeletal myxoid chondrosarcoma								3	40					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776837	164776837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164776837C>T	ENST00000264382.3	-	12	1374	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	438	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATGTTGTTCCATTGGCACGT	0.358000										HNSCC(35;0.089)			3	26					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608904	4608904	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4608904T>A	ENST00000312614.4	+	1	884	c.862T>A	c.(862-864)Tcc>Acc	p.S288T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGATGGCATCCATCTATGC	0.512000													7	117					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551861	58551861	+	Silent	SNP	C	C	T	rs147151087		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58551861C>T	ENST00000282326.1	+	4	661	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	138					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTGGAGTTTCGGTGAGGAGG	0.612000													14	230					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138235855	138235855	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138235855C>T	ENST00000343526.4	+	8	1406	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.S397S			O15164	TIF1A_HUMAN	tripartite motif containing 24	397					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GTGATGCATCCCCAGTGACCA	0.403000													11	90					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152776591	152776591	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152776591C>T	ENST00000367255.5	-	24	3463	c.2862G>A	c.(2860-2862)ggG>ggA	p.G954G	SYNE1_ENST00000448038.1_Silent_p.G961G|SYNE1_ENST00000265368.4_Silent_p.G954G|SYNE1_ENST00000423061.1_Silent_p.G961G|SYNE1_ENST00000495090.2_Silent_p.G521G|SYNE1_ENST00000413186.2_Silent_p.G954G|SYNE1_ENST00000367248.3_Silent_p.G944G|SYNE1_ENST00000341594.5_Silent_p.G1020G|SYNE1_ENST00000367253.4_Silent_p.G954G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	954					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCTGGATCCCCCTTTTCCT	0.507000										HNSCC(10;0.0054)			5	60					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7680636	7680636	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:7680636G>A	ENST00000340209.4	+	8	1020	c.723G>A	c.(721-723)gaG>gaA	p.E241E	RBFOX1_ENST00000355637.4_Silent_p.E256E|RBFOX1_ENST00000311745.5_Silent_p.E256E|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Silent_p.E193E|RBFOX1_ENST00000550418.1_Silent_p.E236E|RBFOX1_ENST00000547338.1_Silent_p.E236E|RBFOX1_ENST00000547372.1_Silent_p.E279E|RBFOX1_ENST00000436368.2_Silent_p.E256E|RBFOX1_ENST00000552089.1_Silent_p.E253E|RBFOX1_ENST00000422070.4_Silent_p.E279E			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	236					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAACCAGGAGGGATCTTCCA	0.488000													4	69					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803024	157803024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157803024G>A	ENST00000368174.4	-	5	1093	c.997C>T	c.(997-999)Cac>Tac	p.H333Y		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	333	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGCAGTCGTGAAACCCCCAA	0.552000													5	121					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731226	57731226	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:57731226G>A	ENST00000281282.5	+	2	1107	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	343	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAACTGGACGGGATATTGATA	0.438000													9	56					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509621	23509621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:23509621G>A	ENST00000296682.3	+	3	294	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	38	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTCACCAAGGAAGAATGGGC	0.418000										HNSCC(3;0.000094)			20	183					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141754683C>T	ENST00000475668.2	+	27	3343	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1097C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1097	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498000													7	64					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56936405	56936405	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:56936405G>A	ENST00000438926.2	+	24	2897	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	SLC12A3_ENST00000262502.5_Silent_p.T946T|SLC12A3_ENST00000566786.1_Silent_p.T955T|SLC12A3_ENST00000563236.1_Silent_p.T947T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	947					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.T956T(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGGAGATTACGAAGAACAGAG	0.582000													7	93					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454513	66454513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66454513C>T	ENST00000533211.1	-	36	7179	c.6848G>A	c.(6847-6849)gGc>gAc	p.G2283D	SPTBN2_ENST00000309996.2_Missense_Mutation_p.G2283D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.G2283D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2283	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCGACGCTGCCCTGGGCCCT	0.612000													17	165					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048686	6048686	+	Silent	SNP	G	G	A	rs147711206		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6048686G>A	ENST00000316650.5	-	1	285	c.249C>T	c.(247-249)acC>acT	p.T83T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGATGACGGTGAGGCAGA	0.577000													6	41					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55174706	55174706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55174706G>A	ENST00000414150.2	+	23	3965	c.3687G>A	c.(3685-3687)atG>atA	p.M1229I	MROH7_ENST00000421030.2_Missense_Mutation_p.M1229I|MROH7_ENST00000409996.1_Missense_Mutation_p.M797I|MROH7_ENST00000454855.2_Missense_Mutation_p.M747I					maestro heat-like repeat family member 7																		TCCCCTGCATGGAGAGCATAA	0.517000													22	171					0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84014684	84014684	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:84014684G>A	ENST00000565691.1	+	3	884	c.162G>A	c.(160-162)ctG>ctA	p.L54L	NECAB2_ENST00000305202.4_Silent_p.L137L			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	137					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TGGCCTCCCTGGAGACCTTGA	0.577000													16	235					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8146321	8146321	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8146321G>A	ENST00000600128.1	-	58	7671	c.7257C>T	c.(7255-7257)ctC>ctT	p.L2419L	FBN3_ENST00000601739.1_Silent_p.L2419L|FBN3_ENST00000270509.2_Silent_p.L2419L			Q75N90	FBN3_HUMAN	fibrillin 3	2419	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGTTTTTGCAGAGGAAGGTAC	0.582000													6	112					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158323802C>T	ENST00000444681.2	+	1	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_ENST00000452291.2_Silent_p.F8F|CD1E_ENST00000368160.3_Silent_p.F8F|CD1E_ENST00000368154.1_Silent_p.F8F|CD1E_ENST00000368161.3_Silent_p.F8F|CD1E_ENST00000368165.3_Silent_p.F8F|CD1E_ENST00000368166.3_Silent_p.F8F|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368167.3_Silent_p.F8F|CD1E_ENST00000368156.1_Silent_p.F8F|CD1E_ENST00000368163.3_Silent_p.F8F|CD1E_ENST00000368157.1_Silent_p.F8F|CD1E_ENST00000368164.3_Silent_p.F8F|CD1E_ENST00000368155.3_Silent_p.F8F	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	8					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000													9	58					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152755059	152755059	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152755059C>T	ENST00000367255.5	-	34	4933	c.4332G>A	c.(4330-4332)gtG>gtA	p.V1444V	SYNE1_ENST00000448038.1_Silent_p.V1451V|SYNE1_ENST00000265368.4_Silent_p.V1444V|SYNE1_ENST00000423061.1_Silent_p.V1451V|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000341594.5_Silent_p.V1514V|SYNE1_ENST00000367253.4_Silent_p.V1444V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1444					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGGTTTTCACCATTTCCA	0.338000										HNSCC(10;0.0054)			4	13					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088099	86088099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:86088099C>T	ENST00000330753.4	+	2	1008	c.241C>T	c.(241-243)Cct>Tct	p.P81S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P81S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	81					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCTGGATTTCCTGCAGAACT	0.488000													11	170					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325217	57325217	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57325217G>A	ENST00000326441.9	-	10	4956	c.4593C>T	c.(4591-4593)atC>atT	p.I1531I	PEG3_ENST00000423103.2_Silent_p.I1531I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.I1405I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.I1407I|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1531					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)		GCTCAAATATGATCATGCTGG	0.478000													6	81					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061169	9061169	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9061169G>A	ENST00000397910.4	-	3	26480	c.26277C>T	c.(26275-26277)tcC>tcT	p.S8759S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8761	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						GTGATATTGTGGATTGAGCAG	0.502000													5	65					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236882221	236882221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:236882221G>A	ENST00000366578.4	+	3	435	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ACTN2_ENST00000542672.1_Missense_Mutation_p.G90E|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	90	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGACCGGGGAAAAATGCGG	0.473000													4	61					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720127	179720127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179720127C>T	ENST00000420890.2	-	19	3124	c.3007G>A	c.(3007-3009)Gat>Aat	p.D1003N	CCDC141_ENST00000295723.5_Missense_Mutation_p.D428N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	428							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTTGTAATCTGTCACAACT	0.348000													8	79					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3870338	3870338	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3870338C>T	ENST00000316562.4	+	1	597	c.591C>T	c.(589-591)tcC>tcT	p.S197S	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	197					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTCGGTCTCCCGCCAGCGCG	0.756000													3	34					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44871423	44871423	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:44871423C>T	ENST00000374426.2	-	4	361	c.324G>A	c.(322-324)caG>caA	p.Q108Q	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TTCTCTTCTTCTGTCGCTTCT	0.403000													8	83					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283540	152283540	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152283540A>C	ENST00000368799.1	-	3	3857	c.3822T>G	c.(3820-3822)agT>agG	p.S1274R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1274	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCACTGTCACTGTCCTGGC	0.557000									Ichthyosis				35	313					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363317	21363317	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21363317C>T	ENST00000452284.1	+	0	984				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						CGTAGGTGGCCAGGGGGAGGT	0.592000													8	84					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35763653	35763653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35763653C>T	ENST00000440995.2	+	26	3635	c.3635C>T	c.(3634-3636)tCt>tTt	p.S1212F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1217F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1217					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATCCATTTCTCTGGAAACA	0.358000													3	46					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490932	157490932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157490932G>A	ENST00000361835.3	-	11	2547	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S797L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.S797L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGGGGACGACCTATTTCC	0.592000													14	115					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579585	7579585	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:7579585G>A	ENST00000379802.3	+	23	3503	c.3162G>A	c.(3160-3162)aaG>aaA	p.K1054K	DSP_ENST00000418664.2_Silent_p.K1054K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1054	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTGTAATAAGAACAAATTCC	0.473000													8	58					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58980029	58980029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:58980029C>T	ENST00000589222.1	+	11	855	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	BCAS3_ENST00000390652.5_Nonsense_Mutation_p.Q263*|BCAS3_ENST00000588462.1_Nonsense_Mutation_p.Q263*|BCAS3_ENST00000588874.1_Nonsense_Mutation_p.Q34*|BCAS3_ENST00000407086.3_Nonsense_Mutation_p.Q263*|BCAS3_ENST00000408905.3_Nonsense_Mutation_p.Q263*|BCAS3_ENST00000585744.1_Nonsense_Mutation_p.Q34*			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	263						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGACAACATTCAGTCTTATAC	0.418000													17	126					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119986103	119986103	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:119986103C>T	ENST00000341846.5	-	8	2068	c.1647G>A	c.(1645-1647)cgG>cgA	p.R549R	TRIM29_ENST00000528870.1_Silent_p.R82R|TRIM29_ENST00000524816.3_Silent_p.R115R|TRIM29_ENST00000541857.1_Silent_p.R282R|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000529044.1_Silent_p.R288R	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	549					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCTTTGGCTCCGCATGAGGG	0.622000													5	43					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900298	3900298	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3900298C>T	ENST00000262367.5	-	2	1607	c.798_splice	c.e2+1	p.K266_splice	CREBBP_ENST00000382070.3_Splice_Site_p.K266_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	266	Interaction with SRCAP.	Breakpoint for translocation to form MYST3-CREBBP.			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTCACTTACCTTGGCCATGC	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						20	147					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625564	74625564	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:74625564G>A	ENST00000321288.5	+	19	2550	c.2550G>A	c.(2548-2550)gtG>gtA	p.V850V	CCDC33_ENST00000558821.1_Intron|CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000268082.4_Silent_p.V240V			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	849							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATCCCAGGTGGACCCCGGGG	0.617000													3	15					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104593873	104593873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:104593873G>A	ENST00000369887.3	-	4	844	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	225					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTTTTGTTGGGGAAAATCTGG	0.383000													4	28					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10248571	10248571	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10248571G>A	ENST00000340748.4	-	35	4417	c.4182C>T	c.(4180-4182)tcC>tcT	p.S1394S	DNMT1_ENST00000359526.4_Silent_p.S1410S|DNMT1_ENST00000540357.1_Silent_p.S1394S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1394	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCTGGAACCAGGACTGAGGCT	0.632000													3	24					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22293689	22293689	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22293689G>A	ENST00000390432.2	+	0	54																											AGCATCTGACGACCTTCTTGG	0.333000													6	91					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316469	39316469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39316469G>A	ENST00000390661.3	-	1	514	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	159						keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGGCCACAATGGGGCCTGTAG	0.617000													12	117					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233701	63233701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63233701C>T	ENST00000540857.1	-	5	730	c.598G>A	c.(598-600)Gac>Aac	p.D200N	HRASLS5_ENST00000301790.4_Missense_Mutation_p.D210N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.D210N	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	210										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATGATCTTGTCCACCGGCAAG	0.512000													7	65					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029326	37029326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37029326G>A	ENST00000358047.3	+	1	2895	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	948										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTAAGTTGGGGAAAAAGCTA	0.458000													19	73					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27820991	27820991	+	Translation_Start_Site	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27820991T>G	ENST00000413371.2	+	0	252				RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.D48E|ZNF512_ENST00000556601.1_De_novo_Start_InFrame|ZNF512_ENST00000416005.2_Missense_Mutation_p.D48E|ZNF512_ENST00000355467.4_Missense_Mutation_p.D49E|ZNF512_ENST00000494548.1_3'UTR	NM_001271287.1|NM_001271288.1|NM_001271318.1	NP_001258216.1|NP_001258217.1|NP_001258247.1	Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TCCCTCATGATGACTCCTTAA	0.408000													7	166					0	0	1	0	0
IL9	3578	broad.mit.edu	37	5	135231462	135231462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:135231462G>A	ENST00000274520.1	-	1	54	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	15					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCTGCCACGGAGCACAGGAG	0.567000													4	72					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178660	32178660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32178660G>A	ENST00000375023.3	-	18	2872	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	912	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAATAGGAGGGGCCGCTGTCG	0.592000													4	34					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953433	8953433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8953433C>T	ENST00000595891.1	+	3	310	c.79C>T	c.(79-81)Cct>Tct	p.P27S	MBD3L1_ENST00000305625.2_Missense_Mutation_p.P27S			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	27	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CACCTCAATCCCTTTGAGAAT	0.468000													6	64					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540377	96540377	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96540377G>A	ENST00000371321.3	+	4	685	c.603G>A	c.(601-603)ttG>ttA	p.L201L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	201					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGGAAAAATTGAATGAAAACA	0.403000													11	75					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657234	76657234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:76657234C>T	ENST00000369950.3	-	14	2030	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	614	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGATTGGATCGTAGATATGG	0.373000													4	32					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230417	155230417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155230417G>A	ENST00000355379.3	-	2	378	c.100C>T	c.(100-102)Cca>Tca	p.P34S	SCAMP3_ENST00000302631.3_Missense_Mutation_p.P60S	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	60					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			GGAGGCAATGGGGCAGGGGCT	0.537000													9	105					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53372315	53372315	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:53372315C>T	ENST00000229416.6	-	9	1530	c.1047G>A	c.(1045-1047)acG>acA	p.T349T		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	349					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTTTATCTATCGTCAAGTCGA	0.373000													9	163					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46474064	46474064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46474064C>T	ENST00000336915.6	-	2	199	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	SKAP1_ENST00000584924.1_Missense_Mutation_p.G44S	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	44					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.G44C(1)|p.G44L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGCTGAAAGCCCCGTAGAATA	0.383000													19	136					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102739	34102739	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:34102739C>T	ENST00000389232.4	+	71	10156	c.10086C>T	c.(10084-10086)atC>atT	p.I3362I	RYR3_ENST00000415757.3_Silent_p.I3357I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3362					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)		TGTATTCCATCCAGACCTCCC	0.512000													4	44					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63327644	63327644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63327644C>T	ENST00000255695.1	-	2	89	c.31G>A	c.(31-33)Gga>Aga	p.G11R		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	11					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATCAGGTCTCCAAGTCTCGGT	0.542000													16	146					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626373	80626373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:80626373C>T	ENST00000369816.4	-	6	1197	c.897G>A	c.(895-897)atG>atA	p.M299I		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	299			M -> V (in dbSNP:rs3812153).		fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATTTTCTATCATGAGTTGTT	0.363000													5	46					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767571	77767571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77767571C>T	ENST00000521891.2	+	10	8862	c.8414C>T	c.(8413-8415)tCg>tTg	p.S2805L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2760L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2760L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2779L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2760						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGACTTCATCGATTAATACG	0.453000										HNSCC(33;0.089)			5	30					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211082789	211082789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211082789C>T	ENST00000233710.3	-	3	498	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	91					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CCAGCTTTTTCCCAAACCTCC	0.393000													4	55					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20037364	20037364	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20037364G>A	ENST00000377309.2	+	0	181				C20orf26_ENST00000451767.2_Missense_Mutation_p.D23N|C20orf26_ENST00000389656.3_De_novo_Start_OutOfFrame|C20orf26_ENST00000377306.1_Missense_Mutation_p.D23N|C20orf26_ENST00000245957.5_Missense_Mutation_p.D23N			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26											NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGAATCACAGGATGTTTATTG	0.353000													8	120					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518169	233518169	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233518169C>T	ENST00000366624.3	+	10	3084	c.2823C>T	c.(2821-2823)atC>atT	p.I941I	MLK4_ENST00000366622.1_Silent_p.I387I	NM_032435.2	NP_115811.2																					CTGTCCACATCGTGCCTCAGC	0.612000													13	95					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358371	124358371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124358371C>T	ENST00000338354.3	+	26	3144	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	DMBT1_ENST00000368955.3_Missense_Mutation_p.S1003F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1013F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1003F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S514F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S514F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1013	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCAAGGCTCCTGGGGCACC	0.587000													49	522					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042276	242042276	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:242042276T>C	ENST00000366548.3	+	13	2333	c.1740T>C	c.(1738-1740)ttT>ttC	p.F580F	EXO1_ENST00000348581.5_Silent_p.F580F|EXO1_ENST00000518483.1_Silent_p.F580F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	580					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAACAGTGTTTACAGATGAAG	0.413000								Editing and processing nucleases					7	103					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65409615	65409615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:65409615G>A	ENST00000519389.1	+	6	1239	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	HEPH_ENST00000441993.2_Missense_Mutation_p.E303K|HEPH_ENST00000374727.3_Missense_Mutation_p.E303K|HEPH_ENST00000336279.5_Missense_Mutation_p.E33K|HEPH_ENST00000419594.1_Missense_Mutation_p.E303K|HEPH_ENST00000343002.2_Missense_Mutation_p.E300K			Q9BQS7	HEPH_HUMAN	hephaestin	300	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGGGCAATGAAATTGATGT	0.468000													3	35					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630623	43630623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:43630623C>T	ENST00000332857.6	-	1	107	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGGAAGATATCCAACACCCAT	0.483000													16	55					0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153857387	153857387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153857387G>A	ENST00000231121.2	-	1	437	c.182C>T	c.(181-183)cCg>cTg	p.P61L		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	61					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			cgcgggcggcggcccgcccgc	0.751000													3	12					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656745	150656745	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150656745G>A	ENST00000392968.2	-	1	1219	c.99C>T	c.(97-99)ttC>ttT	p.F33F	KCNH2_ENST00000430723.3_Silent_p.F129F|KCNH2_ENST00000262186.5_Silent_p.F129F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	129			N -> T (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCACCACCTCGAAATTGAGGA	0.592000													7	92					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220315268	220315268	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:220315268C>T	ENST00000366922.1	+	20	2653	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000302637.5_Silent_p.F846F			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	846					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAGAGGTGTTCCAGCACATAC	0.388000													4	97					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976441	131976441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131976441G>A	ENST00000356920.5	+	1	560	c.466G>A	c.(466-468)Gat>Aat	p.D156N	POTEE_ENST00000358087.5_Missense_Mutation_p.D156N|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	156							ATP binding										CCCCAGAAAGGATCTCATCGT	0.572000													11	212					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42740672	42740672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:42740672C>T	ENST00000379274.2	+	9	1001	c.572C>T	c.(571-573)tCg>tTg	p.S191L	DGKH_ENST00000536612.1_Missense_Mutation_p.S191L|DGKH_ENST00000261491.4_Missense_Mutation_p.S327L|DGKH_ENST00000540693.1_Missense_Mutation_p.S327L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.S82L|DGKH_ENST00000337343.4_Missense_Mutation_p.S327L			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	327					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCAACATTTTCGTTCTGTGTT	0.353000													3	74					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192414	179192414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:179192414C>T	ENST00000292599.3	+	2	666	c.403C>T	c.(403-405)Cct>Tct	p.P135S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	135					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCTCTTTCCTGGGCATAA	0.542000													4	67					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668757	8668757	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8668757G>A	ENST00000270328.4	-	4	713	c.447C>T	c.(445-447)atC>atT	p.I149I	ADAMTS10_ENST00000597188.1_Silent_p.I149I|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	149					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGTCTGCCACGATCAGGCCGT	0.552000													5	65					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032384	21032384	+	Missense_Mutation	SNP	C	C	T	rs145877520		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:21032384C>T	ENST00000381545.3	+	11	1369	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P384S|LST3_ENST00000540229.1_Missense_Mutation_p.P384S|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P384S|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	384					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CATAACCATTCCTACGGTTGC	0.269000													4	27					0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539992	31539992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31539992C>T	ENST00000302312.4	+	3	392	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	97					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GCTCCCGAGTCACCCACCGCC	0.582000													4	23					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141272252	141272252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141272252C>T	ENST00000389484.3	-	51	9210	c.8239G>A	c.(8239-8241)Gat>Aat	p.D2747N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2747	LDL-receptor class A 16.				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)		TCTAACCCATCCCCACAGTCA	0.363000										TSP Lung(27;0.18)			5	147					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885663	29885663	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:29885663G>A	ENST00000310624.6	+	4	2067	c.2034G>A	c.(2032-2034)gaG>gaA	p.E678E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	684	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTCCCCTGAGAAGGCCAAGT	0.572000													16	162					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65421405	65421405	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65421405A>G	ENST00000204549.4	-	2	1028	c.974T>C	c.(973-975)tTg>tCg	p.L325S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	325					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CAGTTTCCTCAATTTCTCCAA	0.478000													38	449					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990452	990452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:990452G>A	ENST00000190165.2	+	2	904	c.866G>A	c.(865-867)cGa>cAa	p.R289Q		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	289					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTGTCCAGCCGATCCTCAGTC	0.572000													11	72					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377941	28377941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28377941C>T	ENST00000261609.7	-	80	12374	c.12266G>A	c.(12265-12267)aGa>aAa	p.R4089K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4089					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCAATTCCTCTCAGAGACTC	0.507000													15	164					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105969	168105969	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:168105969G>A	ENST00000409195.1	+	9	8156	c.8067G>A	c.(8065-8067)caG>caA	p.Q2689Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q2689Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q2467Q|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2514					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACACAACAGAAGAAGTATT	0.363000													12	79					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982111	176982111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:176982111G>A	ENST00000249501.4	+	1	805	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	184						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAACCCTCGTGGCGCGGCCAA	0.582000													14	68					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662469	49662469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49662469C>T	ENST00000296452.4	+	2	400	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	96					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)		TTCCCCAACTCCGAAGCAGGC	0.582000													8	61					0	0	1	0	0
COX16	51241	broad.mit.edu	37	14	70795947	70795947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:70795947G>A	ENST00000389912.6	-	3	291	c.148C>T	c.(148-150)Cct>Tct	p.P50S	COX16_ENST00000557612.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						TCAAGCTCAGGATCCATCTGT	0.294000													6	31					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466465	114466465	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:114466465G>A	ENST00000513154.1	-	9	1946	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	TRIM36_ENST00000514154.1_Silent_p.I397I|TRIM36_ENST00000282369.3_Silent_p.I552I			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	552	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AACCCACTTGGATGCGTTCTG	0.423000													5	145					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21624965	21624965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:21624965C>T	ENST00000425654.2	+	18	2503	c.2023C>T	c.(2023-2025)Ccc>Tcc	p.P675S	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P705S|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P656S|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P705S	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	705					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TAGCCCTCCACCCCCATATGA	0.413000													10	29					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813083	25813083	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:25813083G>A	ENST00000244527.4	-	8	988	c.873C>T	c.(871-873)tcC>tcT	p.S291S	SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Silent_p.S291S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	291					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CATGAAGCATGGAGTTGATAA	0.358000													4	30					0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20246838	20246838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:20246838G>A	ENST00000375116.3	-	4	448	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	131					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTTGTTGGGATAATGGGCA	0.667000													10	70					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2378692	2378692	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2378692G>A	ENST00000202625.2	+	5	733	c.672_splice	c.e5+1	p.M224_splice	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Splice_Site_p.M224_splice	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	224					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCAGTGCCATGGTGAGAAGCC	0.582000													7	117					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217234553	217234553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:217234553G>A	ENST00000273067.4	-	1	2197	c.431C>T	c.(430-432)aCc>aTc	p.T144I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	144						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCGATCCTCGGTCTTCTCCTT	0.592000													4	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113308069	113308069	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113308069G>A	ENST00000297405.5	-	54	8851	c.8607C>T	c.(8605-8607)tcC>tcT	p.S2869S	CSMD3_ENST00000343508.3_Silent_p.S2829S|CSMD3_ENST00000455883.2_Silent_p.S2700S|CSMD3_ENST00000352409.3_Silent_p.S2799S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2869	Sushi 18.					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						TACGCACACAGGATGGGAGCT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	59					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99102183	99102183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:99102183G>A	ENST00000318528.3	+	2	1297	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	313	Glu-rich.							p.R313Q(2)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CATCCAGCACGAAATGTAGAG	0.438000													4	118					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195955082	195955082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:195955082G>A	ENST00000296327.5	+	5	668	c.459G>A	c.(457-459)atG>atA	p.M153I		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACCCCGATGATGGTCCACA	0.647000													17	223					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251579	51251579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51251579C>T	ENST00000266037.9	+	14	1176	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	385						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.R385C(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAGCTTCTTCGTGGAGACAT	0.383000													3	25					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203843	2203843	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2203843G>A	ENST00000544865.1	-	2	621	c.111C>T	c.(109-111)ccC>ccT	p.P37P	SMG6_ENST00000263073.5_Silent_p.P68P			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	68					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTCCCAGGGGGTTCCTTGA	0.473000													9	118					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701710	143701710	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143701710C>T	ENST00000408922.2	+	1	689	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TGGTCATCTTCCTATTCCCAC	0.463000													12	203					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	47					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129922006	129922006	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:129922006G>A	ENST00000222481.4	+	10	1105	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	350					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AGTACAAAGTGGGACCAATCT	0.458000													5	95					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055841	72055841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:72055841C>T	ENST00000555818.1	+	2	1600	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R418W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R418W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	418					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCATATTTTCGGAATGAGAT	0.463000													5	44					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151736	3151736	+	Missense_Mutation	SNP	G	G	A	rs139079286		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:3151736G>A	ENST00000262958.3	+	4	775	c.517G>A	c.(517-519)Gag>Aag	p.E173K	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	173					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.E173K(2)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CATCACCGAGGAGGGCTACGT	0.627000													10	211					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966238	87966238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:87966238C>T	ENST00000327946.7	-	3	488	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	135						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)	GCCTCACCATCGGGGCTGGGG	0.627000										Multiple Myeloma(13;0.14)			10	92					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834065	125834065	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:125834065G>A	ENST00000299308.3	+	2	128	c.120G>A	c.(118-120)acG>acA	p.T40T	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	40						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTCCCCACGAACTTGCACA	0.502000													21	218					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864656	30864656	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30864656G>A	ENST00000403066.1	-	6	368	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	SEC14L3_ENST00000540910.1_Silent_p.L11L|SEC14L3_ENST00000402286.1_Silent_p.L11L|SEC14L3_ENST00000401751.1_Silent_p.L29L|SEC14L3_ENST00000415957.2_Silent_p.L29L|SEC14L3_ENST00000215812.4_Silent_p.L88L|SEC14L3_ENST00000539629.1_Silent_p.L29L			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	88						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TAGCCACACAGGCCCCCAGGC	0.562000													17	216					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133560	177133560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:177133560C>T	ENST00000367654.2	-	1	266	c.253G>A	c.(253-255)Gag>Aag	p.E85K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E85K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E85K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E85K|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	85					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCGTGTTCTCCAGGTCGTCC	0.692000													4	15					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731246	57731246	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:57731246T>C	ENST00000281282.5	+	2	1127	c.1049T>C	c.(1048-1050)aTt>aCt	p.I350T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	350	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACAGGATCAATTCCTGGTGTG	0.438000													8	43					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43223480	43223480	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43223480G>A	ENST00000259750.4	+	9	830	c.747G>A	c.(745-747)ggG>ggA	p.G249G	TTBK1_ENST00000304139.5_Silent_p.G198G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	249	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AACAGGTAGGGATGATCAAGG	0.582000													7	125					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94420665C>T	ENST00000555019.1	-	4	906	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	111					intracellular signal transduction			p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612000													7	132					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37637630	37637630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37637630G>A	ENST00000249071.6	-	2	225	c.104C>T	c.(103-105)aCc>aTc	p.T35I	RAC2_ENST00000405484.1_Missense_Mutation_p.T28I|RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.T35I	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	35					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						AACTCACACGGTGGGGATGTA	0.617000													21	218					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641227	36641227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:36641227G>A	ENST00000373448.2	-	3	1230	c.992C>T	c.(991-993)cCc>cTc	p.P331L	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.P331L|TTI1_ENST00000449821.1_Missense_Mutation_p.P331L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	331							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CTTCAGAAGGGGACCAGCACA	0.453000													7	105					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43222808	43222808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43222808C>T	ENST00000259750.4	+	7	681	c.598C>T	c.(598-600)Cga>Tga	p.R200*	TTBK1_ENST00000304139.5_Nonsense_Mutation_p.R149*	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	200	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGGGTTTCGAGGAACGGT	0.607000													11	115					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261190	49261190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49261190C>T	ENST00000593756.1	+	4	915	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	FGF21_ENST00000222157.3_Missense_Mutation_p.H115Y			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	115					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCCTAGCTCCACTTTGACCC	0.597000													30	419					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189852823	189852823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:189852823C>T	ENST00000304636.3	+	6	715	c.545C>T	c.(544-546)cCc>cTc	p.P182L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P182L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	182	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P182L(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGGCCCTCCCGGTCCCCCT	0.398000													7	57					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31757083	31757083	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31757083T>C	ENST00000253362.2	+	2	278	c.132T>C	c.(130-132)ctT>ctC	p.L44L	BPIFA2_ENST00000354932.5_Silent_p.L44L			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	44						extracellular region	lipid binding										ACGAGGGACTTGAGACAGTTG	0.468000													11	125					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2638194	2638194	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2638194C>T	ENST00000402050.2	+	17	1720	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	IQCE_ENST00000438376.2_Silent_p.S496S|IQCE_ENST00000325979.7_Silent_p.S447S|IQCE_ENST00000404984.1_Silent_p.S461S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	512										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGCCCCGCTCCCCCTGCTCTG	0.701000													8	63					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117647417	117647417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117647417C>T	ENST00000368508.3	-	33	5725	c.5527G>A	c.(5527-5529)Gga>Aga	p.G1843R	ROS1_ENST00000368507.3_Missense_Mutation_p.G1837R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1843	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCACTGATTCCACTATATTCA	0.353000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								14	92					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132020	57132020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:57132020G>A	ENST00000296318.7	-	12	1799	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	IL17RD_ENST00000320057.5_Missense_Mutation_p.P427S|IL17RD_ENST00000463523.1_Missense_Mutation_p.P427S|IL17RD_ENST00000427856.2_Missense_Mutation_p.P547S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	571						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TAGCGCAGTGGAGGAGGATGG	0.517000													5	46					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166764	19166764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:19166764C>T	ENST00000375371.3	-	6	1870	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	617					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)	ACCGGGACCACCATGTATGCC	0.612000													14	97					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441223	99441223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:99441223G>A	ENST00000287042.4	+	2	1366	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	KCNS2_ENST00000521839.1_Missense_Mutation_p.G339E	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	339						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)			CTCTCCGTGGGGATTTCCATC	0.577000													8	64					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004513	248004513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248004513G>A	ENST00000355784.2	-	1	741	c.686C>T	c.(685-687)cCt>cTt	p.P229L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGGTGGAAGGGATTCTCAA	0.498000													3	64					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559927	44559927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44559927C>T	ENST00000332567.4	-	1	2061	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	570	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTTTCTTTCTGCGATACAG	0.498000													8	43					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10529404	10529404	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:10529404C>A	ENST00000379597.3	+	1	816	c.260C>A	c.(259-261)aCa>aAa	p.T87K	GCNT2_ENST00000495262.1_Missense_Mutation_p.T87K|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	87						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTAACAGAAACACTCTCTGAA	0.448000													12	137					0.000566183	0.000569306	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70949651	70949651	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:70949651G>A	ENST00000334414.6	-	19	5036	c.4993_splice	c.e19+1	p.D1664_splice	PTPRB_ENST00000550358.1_Splice_Site_p.D1576_splice|PTPRB_ENST00000538708.1_Splice_Site_p.D1356_splice|PTPRB_ENST00000550857.1_Splice_Site_p.D1356_splice|PTPRB_ENST00000261266.5_Splice_Site_p.D1446_splice|PTPRB_ENST00000451516.2_Splice_Site_p.D1356_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1446					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACACTTACGGTCTATCATTG	0.522000													5	21					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812805	141812805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141812805C>T	ENST00000389484.3	-	10	2403	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	478					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D478N(1)		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)		CCATATGGATCGACTTCACAT	0.428000										TSP Lung(27;0.18)			3	41					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303559	22303559	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:22303559C>T	ENST00000337107.6	+	1	46	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	9					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCAGTTCCCTCCTCCTTGTGG	0.527000													41	393					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280548	152280548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152280548G>A	ENST00000368799.1	-	3	6849	c.6814C>T	c.(6814-6816)Cag>Tag	p.Q2272*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2272	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTCCTGAGCAGATCCA	0.572000									Ichthyosis				8	376					0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6837404	6837404	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6837404T>G	ENST00000543155.1	+	4	736	c.254T>G	c.(253-255)cTt>cGt	p.L85R	COPS7A_ENST00000539735.1_Missense_Mutation_p.L85R|COPS7A_ENST00000534947.1_Missense_Mutation_p.L85R|COPS7A_ENST00000534877.1_Missense_Mutation_p.L85R|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000229251.3_Missense_Mutation_p.L85R|COPS7A_ENST00000538410.1_Missense_Mutation_p.L85R	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	85	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						GCCCGGAATCTTCCTCCACTA	0.507000													7	58					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817754	23817754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23817754C>T	ENST00000354772.3	-	5	1156	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	SLC22A17_ENST00000206544.8_Missense_Mutation_p.R218Q|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R218Q|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R107Q	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	218					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGTGATCATTCGCTGTAGGAA	0.572000													26	151					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325667	31325667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31325667C>T	ENST00000269197.5	+	12	5855	c.5855C>T	c.(5854-5856)tCc>tTc	p.S1952F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGGCCTCTTCCAAGACCCCA	0.532000													7	64					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55273872	55273872	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:55273872C>T	ENST00000256854.5	-	10	1568	c.1113G>A	c.(1111-1113)ggG>ggA	p.G371G	NARS_ENST00000423481.2_Silent_p.G122G	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	371					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GCACTATGCTCCCTGCAGGTG	0.458000													17	173					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175157	102175157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:102175157C>T	ENST00000306176.1	+	4	596	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	ZPLD1_ENST00000466937.1_Missense_Mutation_p.L150F|ZPLD1_ENST00000491959.1_Missense_Mutation_p.L150F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	150	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCTGGGCTTCTTTACAAATT	0.368000													18	211					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037164	75037164	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75037164C>T	ENST00000326665.5	-	14	4448	c.4230G>A	c.(4228-4230)cgG>cgA	p.R1410R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1410	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCCCCACTCCGTGCTAATT	0.552000													17	105					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918289	48918289	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:48918289G>A	ENST00000263269.3	+	6	1669	c.1581_splice	c.e6+1	p.E527_splice		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	527			E -> G (in a breast cancer sample; somatic mutation).			cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGATCGGGGAGGTGAGGGGGC	0.642000													10	95					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76734968	76734968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:76734968C>T	ENST00000369963.3	-	4	460	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	IMPG1_ENST00000369950.3_Missense_Mutation_p.E169K			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	169					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCAGATATTTCATCTTTTCTA	0.343000													4	51					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857758	28857758	+	Missense_Mutation	SNP	C	C	T	rs78786238		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:28857758C>T	ENST00000357727.2	+	10	1715	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L	CREB5_ENST00000409603.1_Missense_Mutation_p.P409L|CREB5_ENST00000396299.2_Missense_Mutation_p.P409L|CREB5_ENST00000396300.2_Missense_Mutation_p.P435L|CREB5_ENST00000396298.2_Missense_Mutation_p.P303L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	442					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AAAGACTGCCCAATAACAGCC	0.363000													13	97					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43181233	43181233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43181233C>T	ENST00000592782.1	+	11	1452	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	NMT1_ENST00000258960.2_Missense_Mutation_p.L441F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	441					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CGCCCTTGTCCTCGCCAAAAT	0.572000													17	199					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541703	55541703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55541703C>T	ENST00000361760.1	+	1	790	c.790C>T	c.(790-792)Cct>Tct	p.P264S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTACTGTGTTCCTAATCCTAA	0.463000													3	37					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532599	71532599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:71532599C>T	ENST00000265382.3	+	9	1212	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.L303F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	303	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCAGAAGGTTCTCTACTCAAC	0.502000													12	88					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516399	140516399	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140516399G>A	ENST00000231134.5	+	1	1600	c.1383G>A	c.(1381-1383)gaG>gaA	p.E461E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTCCGAGAGAACAACAGCC	0.617000													11	290					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113942970	113942970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113942970G>A	ENST00000245796.6	+	4	1397	c.1202G>A	c.(1201-1203)aGa>aAa	p.R401K	PSD4_ENST00000441564.2_Missense_Mutation_p.R401K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	401					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGGCAGAGAGGAGGTCCT	0.567000													8	178					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25440337	25440337	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:25440337T>C	ENST00000255324.5	+	30	4209	c.4157T>C	c.(4156-4158)tTt>tCt	p.F1386S	RNF17_ENST00000339524.3_Missense_Mutation_p.F396S|RNF17_ENST00000381921.1_Missense_Mutation_p.F1344S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1386					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAATAAGGTTTGAGGTAAGT	0.303000													5	138					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291010	62291010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:62291010G>A	ENST00000378024.4	-	5	11153	c.10879C>T	c.(10879-10881)Cct>Tct	p.P3627S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3627					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGCTTTAGGGAGGGTAACA	0.483000													20	236					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993283	140993283	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:140993283C>T	ENST00000285879.4	+	4	379	c.93C>T	c.(91-93)tcC>tcT	p.S31S	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	31							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)					GGGAGGACTCCCAGTCTCCTC	0.582000										HNSCC(15;0.026)			12	71					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258219	25258219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:25258219G>A	ENST00000328086.7	-	5	2101	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	433					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ATCAGTGGACGGAGCACGGGC	0.507000													4	93					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594272	136594272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:136594272G>A	ENST00000531224.1	-	7	2158	c.1906C>T	c.(1906-1908)Cag>Tag	p.Q636*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Q463*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Q634*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Q634*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Q634*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Q636*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	636					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTGGCTTTCTGATACGAAGTG	0.388000													12	220					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12231071	12231071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:12231071C>T	ENST00000256194.4	+	6	905	c.617C>T	c.(616-618)cCt>cTt	p.P206L	MICAL2_ENST00000527546.1_Missense_Mutation_p.P206L|MICAL2_ENST00000537344.1_Missense_Mutation_p.P206L|MICAL2_ENST00000379612.3_Missense_Mutation_p.P206L|MICAL2_ENST00000342902.5_Missense_Mutation_p.P206L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	206						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAATTTCTCCCTACAGACCAT	0.517000													15	173					0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557706	138557706	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:138557706G>A	ENST00000277526.3	+	6	475		c.e6-1		LCN9_ENST00000430290.2_Splice_Site	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9							extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TGTCCTTCCAGATCCCTGCTA	0.697000													4	26					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24690166	24690166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:24690166G>A	ENST00000396475.2	+	6	785	c.486G>A	c.(484-486)atG>atA	p.M162I	MPP6_ENST00000409761.1_Missense_Mutation_p.M50I|MPP6_ENST00000222644.4_Missense_Mutation_p.M162I	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	162	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGGGGAATGATAGATCGAC	0.343000													8	70					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241044	3241044	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3241044C>T	ENST00000217939.6	-	5	2836	c.2682G>A	c.(2680-2682)aaG>aaA	p.K894K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	894						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCTCAGTCTTCTCGGAAA	0.473000													5	44					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068217	189068217	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:189068217G>A	ENST00000332517.3	+	6	1238	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	366	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGAAAGGGGAATCTCCCCA	0.527000													6	79					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52145262	52145262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52145262C>T	ENST00000282588.6	+	2	583	c.125C>T	c.(124-126)cCg>cTg	p.P42L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	42					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)				TTCAGCGGCCCGGTGGAAGAC	0.353000													3	45					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793296	160793296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160793296G>A	ENST00000263285.5	+	8	1570	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	LY9_ENST00000341032.4_Splice_Site|LY9_ENST00000368041.2_Missense_Mutation_p.G384R|LY9_ENST00000368035.1_Splice_Site|LY9_ENST00000368040.1_Splice_Site	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	514					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCTCCCAAGGATATGAGAA	0.542000													3	39					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093627	36093627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:36093627C>T	ENST00000303965.4	-	28	4790	c.4301G>A	c.(4300-4302)gGa>gAa	p.G1434E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1434	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGATGCTTCCCAGTGTACT	0.328000													7	91					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891817	38891817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38891817C>T	ENST00000359357.3	+	71	10444	c.10190C>T	c.(10189-10191)cCt>cTt	p.P3397L	DNAH8_ENST00000441566.1_Missense_Mutation_p.P3361L|DNAH8_ENST00000449981.2_Missense_Mutation_p.P3614L|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACCTTGGTCCTTTCAATCAG	0.413000													4	82					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501559	150501559	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150501559G>A	ENST00000484928.1	+	6	1246	c.666_splice	c.e6+1	p.G222_splice	TMEM176A_ENST00000461345.1_Splice_Site_p.G163_splice|TMEM176A_ENST00000004103.3_Splice_Site_p.G222_splice			Q96HP8	T176A_HUMAN	transmembrane protein 176A	222						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAACCAAAGGGGTGAGTCCC	0.552000													8	89					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092139	1092139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1092139G>A	ENST00000441003.2	+	30	3985	c.3958G>A	c.(3958-3960)Gac>Aac	p.D1320N	MUC2_ENST00000359061.5_Missense_Mutation_p.D1321N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1320						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGCAGCGACGACGGTGACCG	0.592000													3	39					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103536	53103536	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:53103536C>T	ENST00000408890.4	+	1	188	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	58										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGAGGTCCCTGACTCAGAG	0.706000													11	59					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053302	11053302	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:11053302C>T	ENST00000295082.1	+	1	1240	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGCTGCACTTCGCGCTGTCCT	0.612000													4	130					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107282	249107282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:249107282G>A	ENST00000366472.5	-	6	1846	c.617C>T	c.(616-618)gCt>gTt	p.A206V	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.A174V|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	206										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTGGACCCGAGCCTCAGCCTG	0.637000													14	29					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933591	94933591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94933591C>T	ENST00000337425.5	-	3	885	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SERPINA9_ENST00000380365.3_Missense_Mutation_p.E253K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.E235K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.E122K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.E173K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.E171K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	253					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CAGTTCAGCTCTGTATCCACC	0.517000													5	50					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138552730	138552730	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138552730G>A	ENST00000440172.1	-	15	4968	c.4920C>T	c.(4918-4920)atC>atT	p.I1640I	KIAA1549_ENST00000422774.1_Silent_p.I1640I|KIAA1549_ENST00000242365.4_Silent_p.I1590I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1640						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGGCATCCGATGTAGGCTG	0.627000			O	BRAF	pilocytic astrocytoma								5	51					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38103386	38103386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:38103386G>A	ENST00000290399.6	+	7	1397	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SIM2_ENST00000430056.3_Missense_Mutation_p.E262K	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	262	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGACCTGATCGAGAAGACCCT	0.612000													13	124					0	0	1	0	0
MIR526A1	574475	broad.mit.edu	37	19	54209529	54209529	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54209529G>A	ENST00000384897.1	+	0	24					NR_030197.1																						CCTCTAGAGGGAAGCACTTTC	0.408000													12	120					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900709	51900709	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:51900709C>T	ENST00000268919.4	+	1	471	c.315C>T	c.(313-315)gcC>gcT	p.A105A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	105					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTCTTCGGCCATCAGGGACC	0.612000													19	234					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022096	107022096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:107022096C>T	ENST00000369701.3	+	26	3678	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1151						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGGAAAATCCCTTGGATTAA	0.488000													6	66					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292127	18292127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:18292127G>A	ENST00000377369.2	+	12	2060	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G462E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G595E|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G559E|SLC39A12-AS1_ENST00000439319.1_RNA	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	596					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTAAGCTCTGGACTTTCTATG	0.398000													10	121					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099719	142099719	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142099719C>T	ENST00000390359.3	-	0	121																											GACTTTGTACCTAGGGGACTG	0.473000													3	33					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701141	143701141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143701141C>T	ENST00000408922.2	+	1	120	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGTGGGATTCCCTGGGAGCTT	0.483000													8	64					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361486	124361486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124361486G>A	ENST00000338354.3	+	29	3623	c.3517G>A	c.(3517-3519)Gga>Aga	p.G1173R	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1163R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1173R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1163R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G674R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G674R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1173	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCAGCCCCAGGAAATGCCCG	0.602000													25	362					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162098	29162098	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:29162098C>T	ENST00000321990.4	+	2	1377	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	333					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTATTCCGCCCAAAAAGACAG	0.373000													6	75					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145696	42145696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:42145696G>A	ENST00000502486.1	-	3	1382	c.803C>T	c.(802-804)tCg>tTg	p.S268L	BEND4_ENST00000504360.1_Missense_Mutation_p.S264L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	268										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACTGGCTGACGAGGGGTTTGG	0.493000													4	42					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453651	82453651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82453651C>T	ENST00000423517.2	-	19	14834	c.14497G>A	c.(14497-14499)Gat>Aat	p.D4833N	PCLO_ENST00000333891.8_Missense_Mutation_p.D4833N|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4695					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						TTGCCATGATCAATGCTTTCA	0.438000													4	61					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681026	100681026	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100681026G>T	ENST00000306151.4	+	3	6393	c.6329G>T	c.(6328-6330)aGc>aTc	p.S2110I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2110	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)					ATACCTCTCAGCACCACGCCG	0.493000													21	421					4.87955e-14	4.9468e-14	1	1	0
OR1L3	26735	broad.mit.edu	37	9	125438074	125438074	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125438074C>T	ENST00000304820.2	+	1	760	c.666C>T	c.(664-666)ctC>ctT	p.L222L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TAAGAATTCTCATCGCTGTTC	0.463000													6	43					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911453	130911453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:130911453G>A	ENST00000409031.1	-	17	2980	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	SMPD4_ENST00000426662.2_Missense_Mutation_p.S247F|SMPD4_ENST00000453750.1_Missense_Mutation_p.S360F|SMPD4_ENST00000351288.6_Missense_Mutation_p.S582F|SMPD4_ENST00000443958.2_Missense_Mutation_p.S275F|SMPD4_ENST00000452225.2_Missense_Mutation_p.S352F|SMPD4_ENST00000339679.7_Missense_Mutation_p.S469F|SMPD4_ENST00000431183.2_Missense_Mutation_p.S509F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	572					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)	ACACTGGTCGGAGATGGACTT	0.632000													5	77					0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25287536	25287536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:25287536G>A	ENST00000339157.5	-	10	1155	c.883C>T	c.(883-885)Cct>Tct	p.P295S	ABHD12_ENST00000376542.3_Missense_Mutation_p.P295S|ABHD12_ENST00000481556.1_5'UTR	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	295						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TCAAACCCAGGGAAGTATCGA	0.388000													5	54					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131671776	131671776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131671776C>T	ENST00000368648.3	-	8	793	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	EBF3_ENST00000355311.5_Missense_Mutation_p.G241R	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	241					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCGCCTCCCGTGTTTGGAA	0.507000													6	69					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478579	1478579	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:1478579G>A	ENST00000297508.7	-	10	2194	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	MICALL2_ENST00000405088.4_Silent_p.L461L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	673						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACAAACGTCGAGGCTGGCAG	0.672000													12	35					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772473	4772473	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:4772473C>T	ENST00000378191.4	+	2	924	c.543C>T	c.(541-543)atC>atT	p.I181I	AJAP1_ENST00000378190.3_Silent_p.I181I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	181	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGAGTTCATCGCCTGGGGGC	0.647000													4	12					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525476	176525476	+	Silent	SNP	C	C	T	rs148899801		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176525476C>T	ENST00000367662.3	+	2	1182	c.18C>T	c.(16-18)atC>atT	p.I6I	PAPPA2_ENST00000367661.3_Silent_p.I6I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	6					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.I6I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTAAAGATCCTAAGAATAA	0.517000													11	119					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43590049	43590049	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43590049G>A	ENST00000395891.1	+	27	4859	c.4254G>A	c.(4252-4254)acG>acA	p.T1418T	HECW1_ENST00000453890.1_Silent_p.T1384T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1418	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACAAGGTCACGGAAAGGGAGT	0.507000													5	47					0	0	1	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883619	58883619	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:58883619C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						gcctcaggctcagtggcctat	0.567000													4	41					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440236	135440236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:135440236C>T	ENST00000443774.1	-	1	60	c.11G>A	c.(10-12)gGa>gAa	p.G4E	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4E			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus		p.G4V(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTCTTCATTTCCCTTTCCCAT	0.522000													7	285					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114511151	114511151	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:114511151C>T	ENST00000369558.1	+	13	2884	c.2652C>T	c.(2650-2652)gtC>gtT	p.V884V	HIPK1_ENST00000426820.2_Silent_p.V884V|HIPK1_ENST00000369553.1_Silent_p.V490V|HIPK1_ENST00000369559.4_Silent_p.V884V|HIPK1_ENST00000369554.2_Silent_p.V839V|HIPK1_ENST00000369555.2_Silent_p.V839V|HIPK1_ENST00000369561.4_Silent_p.V850V|HIPK1_ENST00000406344.1_Silent_p.V490V|HIPK1_ENST00000340480.4_Silent_p.V510V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		ATTCCTTGGTCCCTGTCCAAG	0.498000													16	141					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141732659	141732659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141732659C>T	ENST00000475668.2	+	14	1673	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	MGAM_ENST00000549489.2_Missense_Mutation_p.S540L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	540	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGATGGTTCGGTCTCAGGA	0.368000													3	25					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948778	2948778	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2948778G>A	ENST00000380520.1	-	6	2879	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SERPINB6_ENST00000380546.3_Silent_p.F295F|SERPINB6_ENST00000380524.1_Silent_p.F295F|SERPINB6_ENST00000335686.5_Silent_p.F295F|SERPINB6_ENST00000380539.1_Silent_p.F295F|SERPINB6_ENST00000380529.1_Silent_p.F295F			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	295					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TGCCCAGCTCGAAGGCATCAG	0.547000													26	181					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417459	150417459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150417459C>T	ENST00000307194.5	+	3	507	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGTTGGGTCGGTTCACCGC	0.622000													4	44					0	0	1	0	0
EPPIN	57119	broad.mit.edu	37	20	44171379	44171379	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44171379G>A	ENST00000354280.4	-	3	417	c.351C>T	c.(349-351)ttC>ttT	p.F117F	EPPIN_ENST00000409554.1_3'UTR|EPPIN_ENST00000555685.1_Silent_p.F117F|EPPIN_ENST00000336443.3_Silent_p.F101F|EPPIN-WFDC6_ENST00000504988.1_Silent_p.F117F	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		CTTTGGATTGGAAGTTGTTAT	0.498000													7	98					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85774624	85774624	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:85774624G>A	ENST00000521268.1	+	6	1612	c.507G>A	c.(505-507)ggG>ggA	p.G169G	RALYL_ENST00000522455.1_Silent_p.G169G|RALYL_ENST00000521695.1_Silent_p.G169G|RALYL_ENST00000523850.1_Silent_p.G96G|RALYL_ENST00000517638.1_Silent_p.G182G|RALYL_ENST00000521376.1_Silent_p.G80G|RALYL_ENST00000518566.1_Silent_p.G158G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	169							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTCGCAGGGGGAAAGGAGTCT	0.473000													3	35					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922608	37922608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37922608G>A	ENST00000346872.3	-	8	1026	c.965C>T	c.(964-966)cCc>cTc	p.P322L	IKZF3_ENST00000351680.3_Missense_Mutation_p.P283L|IKZF3_ENST00000350532.3_Missense_Mutation_p.P283L|IKZF3_ENST00000583368.1_Missense_Mutation_p.P75L|IKZF3_ENST00000377944.3_Missense_Mutation_p.P179L|IKZF3_ENST00000394189.2_Missense_Mutation_p.P140L|IKZF3_ENST00000467757.1_Missense_Mutation_p.P266L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P244L|IKZF3_ENST00000377952.2_Missense_Mutation_p.P101L|IKZF3_ENST00000377958.2_Missense_Mutation_p.P235L|IKZF3_ENST00000439167.2_Missense_Mutation_p.P249L|IKZF3_ENST00000377945.3_Missense_Mutation_p.P188L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P288L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P227L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	322					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGACCAAGGGGCGCAGGGC	0.557000													5	57					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446848	226446848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:226446848G>A	ENST00000272907.6	+	4	1128	c.715G>A	c.(715-717)Gag>Aag	p.E239K	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	239																	GGGAGACCCCGAGGAAGAGGA	0.587000													14	127					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24167504	24167504	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:24167504A>T	ENST00000382263.3	+	3	274	c.90A>T	c.(88-90)gaA>gaT	p.E30D	TNFRSF19_ENST00000464735.1_3'UTR|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E30D|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E30D|TNFRSF19_ENST00000403372.2_Intron	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	30					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGACTTGTGAATCAGGAGACT	0.358000													8	94					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797356	127797356	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:127797356G>A	ENST00000556132.1	-	6	2679	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	SOGA3_ENST00000368268.2_Silent_p.I605I|SOGA3_ENST00000481848.2_Silent_p.I605I|SOGA3_ENST00000465909.2_Silent_p.I605I|SOGA3_ENST00000525778.1_Silent_p.I605I	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	605						integral to membrane											CCAGTTCGACGATTTTCCTGC	0.607000													12	240					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568504	223568504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:223568504G>A	ENST00000366875.3	+	1	1790	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	563										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGGCATCAAGGAGGCCATTAA	0.532000													7	58					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309620	89309620	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:89309620G>A	ENST00000493819.1	-	0	267																											ATGCAGCATAGATCAGGAGCT	0.522000													8	91					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198460726	198460726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:198460726G>A	ENST00000295049.3	-	8	1758	c.1222C>T	c.(1222-1224)Caa>Taa	p.Q408*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	408						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCTGGTGTTTGAGCAGCTGAA	0.338000													5	79					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793909	38793909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38793909C>T	ENST00000449082.2	-	11	1555	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	519					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATCTGTGACTCCCTCAGGGAG	0.607000													8	42					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39496021	39496021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:39496021C>T	ENST00000265707.5	+	10	910	c.865C>T	c.(865-867)Cct>Tct	p.P289S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P265S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	289	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P289S(1)|p.P289F(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGCAACATTTCCTGGCACTGT	0.274000													3	47					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843146	227843146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:227843146C>T	ENST00000343776.4	+	4	1540	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H454Y			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	454					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAGGAGAATTCATACTGGAGT	0.383000													4	36					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822875	19822875	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19822875G>A	ENST00000344099.3	-	4	1353	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTCTCGAAGGGAACTTGAAA	0.378000													5	77					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181170	68181170	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:68181170C>T	ENST00000294304.7	+	12	2623	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	839	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGAGCGGGTCGTGATTGCCG	0.612000													8	114					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210353	126210353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:126210353C>T	ENST00000368357.3	+	10	1505	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	NCOA7_ENST00000229634.9_Missense_Mutation_p.P270S|NCOA7_ENST00000392477.2_Missense_Mutation_p.P385S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	385					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CCATGGTTCTCCCACAGTGAC	0.458000													8	28					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948186	145948186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145948186G>A	ENST00000292562.7	-	5	1134	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGTGAATTCTCCGA	0.433000													8	80					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220135009	220135009	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:220135009C>T	ENST00000490341.1	+	0	309					NR_003063.1																						GCCACTACACCATTGGGAAGG	0.532000													3	23					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98392448	98392448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98392448G>A	ENST00000186436.5	-	32	4406	c.4178C>T	c.(4177-4179)cCa>cTa	p.P1393L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1393	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTTCTTAGGTGGTTTCACCTT	0.418000													7	47					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000													7	99					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35014170	35014170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35014170C>T	ENST00000231420.6	-	10	1218	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	340					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGCAGGACATCGTGGGTTTGG	0.502000													9	62					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398343	10398343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10398343C>T	ENST00000226207.5	-	37	5465	c.5371G>A	c.(5371-5373)Gaa>Aaa	p.E1791K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1791						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACCGTCTGTTCCAGGTTCTTC	0.562000													20	145					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17559377	17559377	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17559377T>A	ENST00000375471.4	+	11	1317	c.1225T>A	c.(1225-1227)Ttc>Atc	p.F409I		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	409					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCTTGACTCCTTCGGCAACCT	0.647000													7	42					0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60201273	60201273	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60201273C>T	ENST00000300190.2	+	4	461	c.375C>T	c.(373-375)gcC>gcT	p.A125A	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	125						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TTCTTAGTGCCCTGGGAGCAA	0.373000													11	149					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167623	140167623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140167623G>A	ENST00000504120.2	+	1	1748	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R583Q	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCCGCGATTGGTGGGT	0.662000													12	123					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609476	105609476	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:105609476G>A	ENST00000254765.3	-	2	587	c.309C>T	c.(307-309)acC>acT	p.T103T	BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	103						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCGGGCAAAGGTTATGCTGC	0.433000													20	266					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128582311	128582311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128582311G>A	ENST00000402030.2	+	2	248	c.176G>A	c.(175-177)gGa>gAa	p.G59E	IRF5_ENST00000249375.4_Missense_Mutation_p.G59E|IRF5_ENST00000357234.5_Missense_Mutation_p.G59E|IRF5_ENST00000473745.1_Missense_Mutation_p.G59E|IRF5_ENST00000477535.1_Missense_Mutation_p.G59E	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	59					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCCAGGACGGAGATAACACC	0.582000													4	74					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984729	33984729	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33984729C>T	ENST00000262325.7	+	14	2461	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L	AP2B1_ENST00000538556.1_Silent_p.L579L|AP2B1_ENST00000592545.1_Silent_p.L598L|AP2B1_ENST00000312678.8_Silent_p.L636L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Silent_p.L636L|AP2B1_ENST00000537622.2_Silent_p.L636L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	636	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCTTGACCTCGGTCCCCCAG	0.527000													9	108					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166172209	166172209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166172209C>T	ENST00000375437.2	+	11	1902	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C	SCN2A_ENST00000357398.3_Missense_Mutation_p.R538C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R538C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R538C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	538					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R538C(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAAAGGTTTCCGTTTTTCCTT	0.338000													6	65					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741093	146741093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:146741093G>A	ENST00000361727.3	+	4	1013	c.497G>A	c.(496-498)tGg>tAg	p.W166*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	166	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTCTGGATTGGAATGGAGAA	0.433000										HNSCC(39;0.1)			12	188					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510548	4510548	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4510548G>T	ENST00000307632.3	+	1	440	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGTCCTGACTGGGTCCCTCAT	0.582000													3	49					0.00024832	0.000249809	1	1	0
SLC14A1	6563	broad.mit.edu	37	18	43316484	43316484	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:43316484C>T	ENST00000321925.4	+	6	766	c.534C>T	c.(532-534)ctC>ctT	p.L178L	SLC14A1_ENST00000402943.2_Silent_p.L73L|SLC14A1_ENST00000535474.1_Silent_p.L46L|SLC14A1_ENST00000589700.1_Silent_p.L178L|SLC14A1_ENST00000502059.2_Silent_p.L70L|SLC14A1_ENST00000586142.1_Silent_p.L178L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000436407.3_Silent_p.L234L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000415427.3_Silent_p.L234L	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	178						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTTCACCCTCCCTTTCAACA	0.433000													8	130					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9412785	9412785	+	Silent	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9412785C>A	ENST00000345094.3	+	4	706	c.372C>A	c.(370-372)ctC>ctA	p.L124L	THUMPD3_ENST00000452837.2_Silent_p.L124L|THUMPD3_ENST00000515662.2_Silent_p.L124L|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	124							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CTGGAAAACTCCCATGGTCAA	0.323000													9	95					0.00010058	0.000101305	1	1	0
ZIC5	85416	broad.mit.edu	37	13	100617672	100617672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:100617672C>T	ENST00000267294.4	-	2	2184	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	651					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGTAAATTTCCTCATCTTCA	0.473000													12	157					0	0	1	0	0
TEX30	93081	broad.mit.edu	37	13	103421788	103421788	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:103421788C>G	ENST00000376032.4	-	3	308	c.119G>C	c.(118-120)gGa>gCa	p.G40A	TEX30_ENST00000376019.1_5'UTR|TEX30_ENST00000376021.4_5'UTR|TEX30_ENST00000487260.1_5'UTR|TEX30_ENST00000376029.3_Missense_Mutation_p.G40A|TEX30_ENST00000376022.1_5'UTR|TEX30_ENST00000376027.1_Missense_Mutation_p.G40A	NM_138779.3	NP_620134.3	Q5JUR7	CM027_HUMAN	testis expressed 30	40										lung(1)|urinary_tract(1)	2						ATTCATATCTCCTGATGCTCC	0.348000													4	66					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147377	161147377	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:161147377C>T	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TCTTCGCTTTCGGCGCCATGT	0.398000													5	46					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991248	28991248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28991248G>A	ENST00000359747.4	+	14	2278	c.2249G>A	c.(2248-2250)gGa>gAa	p.G750E	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G731E|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	731					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)			GGTGTATCGGGAGTGGAGCTC	0.602000													16	114					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43897554	43897554	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43897554C>T	ENST00000291536.3	-	7	741	c.573_splice	c.e7-1	p.E192_splice	RSPH1_ENST00000398352.3_Splice_Site_p.E154_splice	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	192					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCTCCTCTTTCCTATTTTAAG	0.398000													4	94					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877578	31877578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31877578G>A	ENST00000396184.3	-	11	1192	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PDE1C_ENST00000396191.1_Nonsense_Mutation_p.R330*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.R330*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.R390*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.R330*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACCAAGGTTCGAAACTCCCTT	0.388000													10	109					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38027945	38027945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:38027945C>T	ENST00000445217.1	+	4	420	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	ZNF793_ENST00000587143.1_Missense_Mutation_p.L129F|ZNF793_ENST00000589319.1_Missense_Mutation_p.L129F|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.L129F			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCACTGATCTTTTTTCTTC	0.383000													3	27					0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72057474	72057474	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72057474A>T	ENST00000572887.1	+	8	1246	c.1069A>T	c.(1069-1071)Acc>Tcc	p.T357S	DHODH_ENST00000219240.4_Missense_Mutation_p.T359S			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	359					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CACGGCCCTCACCTTCTGGGG	0.607000													8	67					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828306	150828306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150828306C>T	ENST00000370357.4	+	10	1084	c.839C>T	c.(838-840)cCa>cTa	p.P280L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	280						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAATCTCCAGGTAGGTAC	0.373000													5	43					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949036	69949036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:69949036C>T	ENST00000370598.1	+	20	3553	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F	BAI3_ENST00000238918.8_Missense_Mutation_p.S117F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	911					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTGAGAGATCCATAATACTA	0.363000													16	163					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958228	53958228	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53958228C>T	ENST00000454407.1	+	0	920							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATATTTCAGACCGAAGAGAAA	0.393000													5	136					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751953	140751953	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607000													5	95					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153745	43153745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43153745C>T	ENST00000252050.4	+	4	887	c.803C>T	c.(802-804)tCc>tTc	p.S268F	CUL9_ENST00000372647.2_Missense_Mutation_p.S268F|CUL9_ENST00000354495.3_Missense_Mutation_p.S268F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	268					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGTGTCACGTCCCTCCTGGAT	0.542000													5	60					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32739085	32739085	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32739085C>T	ENST00000265074.8	+	3	1351	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NPR3_ENST00000415167.2_Silent_p.S336S|NPR3_ENST00000415685.2_Silent_p.S120S|NPR3_ENST00000434067.2_Silent_p.S120S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	336					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGAAGTTTTCCATGGAGGTGA	0.443000													8	73					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084023	152084023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152084023C>T	ENST00000368804.1	-	2	1669	c.1670G>A	c.(1669-1671)aGg>aAg	p.R557K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	557	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGAGCCTCTTCTCCTC	0.662000													8	137					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129747256	129747256	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:129747256G>A	ENST00000446488.3	-	15	1639	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	NFRKB_ENST00000524794.1_Silent_p.P537P|NFRKB_ENST00000304521.5_Silent_p.P512P|NFRKB_ENST00000524746.1_Silent_p.P512P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	512					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)		CCCCCGTGCTGGGACGCACCA	0.512000													21	214					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465512	79465512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79465512C>T	ENST00000376718.3	-	3	334	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.E71K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	71					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AACCTCGTCTCGGTGAAGTAG	0.393000													11	164					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815728	215815728	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:215815728T>C	ENST00000272895.7	-	45	6946	c.6727A>G	c.(6727-6729)Aga>Gga	p.R2243G	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.R1925G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2243					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTCAACTCTTAATCTCTCA	0.378000													11	148					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275788	71275788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71275788G>A	ENST00000399575.2	+	3	917	c.743G>A	c.(742-744)gGt>gAt	p.G248D		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	248					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCCATTTTTGGTTGAACATGC	0.368000													7	35					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935492	30935492	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:30935492G>A	ENST00000355537.3	+	2	1170	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGCAGTCGGCCAACGAGT	0.647000													9	224					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603377	101603377	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101603377T>C	ENST00000536262.2	-	1	808	c.250A>G	c.(250-252)Att>Gtt	p.I84V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	84					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGCTAAAAATGGCCCCAAAA	0.567000													7	64					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22279906	22279906	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22279906C>T	ENST00000390431.3	+	0	95																											CAAGTGCTCCCCTCTGAAGGG	0.448000													3	12					0	0	1	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497290	39497290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39497290G>A	ENST00000442487.3	+	3	326	c.199G>A	c.(199-201)Gga>Aga	p.G67R	APOBEC3H_ENST00000348946.4_Missense_Mutation_p.G67R|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.G67R|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.G67R	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	67					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CAAGTCCATGGGACTGGACGA	0.537000													7	124					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114182125	114182125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114182125G>A	ENST00000393081.1	+	17	1826	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	ACSL5_ENST00000369410.3_Missense_Mutation_p.D289N|ACSL5_ENST00000354273.4_Missense_Mutation_p.D507N|ACSL5_ENST00000433418.1_Missense_Mutation_p.D507N|ACSL5_ENST00000356116.1_Missense_Mutation_p.D563N|ACSL5_ENST00000354655.4_Missense_Mutation_p.D507N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	507					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATACCTGAAGGACCCTGAGAA	0.542000													7	76					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337863	37337863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:37337863C>T	ENST00000373091.3	-	4	674	c.658G>A	c.(658-660)Gag>Aag	p.E220K	GRIK3_ENST00000373093.4_Missense_Mutation_p.E220K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	220					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCTTCATCTCCTTGAGCAAG	0.597000													11	81					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40800157	40800157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:40800157G>A	ENST00000358268.2	-	4	791	c.263C>T	c.(262-264)cCt>cTt	p.P88L	LCA5L_ENST00000380671.2_Missense_Mutation_p.P88L|LCA5L_ENST00000485895.2_Missense_Mutation_p.P88L|LCA5L_ENST00000288350.3_Missense_Mutation_p.P88L			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	88										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTTACCACAGGCTGCTTTAA	0.333000													7	65					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62043468	62043468	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:62043468G>A	ENST00000435607.1	-	8	1312	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	SCN4A_ENST00000578147.1_Silent_p.F412F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	412					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTACCAGCTGGAAGAGGTTCT	0.612000													4	10					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127808401	127808401	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:127808401G>A	ENST00000316724.5	-	17	1960	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	BIN1_ENST00000393041.3_Silent_p.L399L|BIN1_ENST00000259238.4_Silent_p.L421L|BIN1_ENST00000357970.3_Silent_p.L474L|BIN1_ENST00000351659.3_Silent_p.L430L|BIN1_ENST00000346226.3_Silent_p.L442L|BIN1_ENST00000393040.3_Silent_p.L406L|BIN1_ENST00000409400.1_Silent_p.L363L|BIN1_ENST00000352848.3_Silent_p.L378L|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Silent_p.L333L|BIN1_ENST00000376113.2_Silent_p.L348L	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	517					cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTGGGGGCAGGTCCAAGCGC	0.637000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	131					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82031727	82031727	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:82031727C>T	ENST00000395578.1	-	15	1931	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	PRKG2_ENST00000545647.1_Silent_p.Q185Q|PRKG2_ENST00000264399.1_Silent_p.Q605Q|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.Q576Q			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	605	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCATGTTTTCTGTCCAGACC	0.418000													4	37					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													21	95					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6251088	6251088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:6251088C>T	ENST00000264870.3	-	5	911	c.646G>A	c.(646-648)Gga>Aga	p.G216R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	216					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTGACCTCTCCATAAAAAATT	0.383000													4	61					0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14046553	14046553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:14046553C>T	ENST00000339560.5	-	5	769	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000254320.3_Missense_Mutation_p.G84R|PODNL1_ENST00000538371.2_Missense_Mutation_p.G164R	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	166	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GGCTTCTCCCCAAAGGTGAGG	0.622000													3	23					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221940	32221940	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32221940G>A	ENST00000373658.3	-	4	839	c.498C>T	c.(496-498)ccC>ccT	p.P166P	BAI2_ENST00000527361.1_Silent_p.P166P|BAI2_ENST00000398556.3_Silent_p.P169P|BAI2_ENST00000257070.4_Silent_p.P166P|BAI2_ENST00000398542.1_Silent_p.P154P|BAI2_ENST00000398547.1_Silent_p.P154P|BAI2_ENST00000373655.2_Silent_p.P166P|BAI2_ENST00000398538.1_Silent_p.P154P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	166					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGCCTCGGAGGGCTCAGCCG	0.627000													7	48					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174807	140174807	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140174807G>A	ENST00000526136.1	+	1	258	c.258G>A	c.(256-258)gtG>gtA	p.V86V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.V86V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.V86V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTTTGTGAATTCTCGGA	0.602000													28	332					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940786	144940786	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:144940786C>T	ENST00000525985.1	-	2	6707	c.6636G>A	c.(6634-6636)gaG>gaA	p.E2212E				P58107	EPIPL_HUMAN	epiplakin 1	2212						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTCGTCCTCCATGAGCT	0.622000													10	114					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176515	140176515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140176515G>A	ENST00000526136.1	+	1	1966	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E656K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E656K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGGCGAACCAGCGTT	0.672000													6	106					0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39493345	39493345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:39493345G>A	ENST00000328264.3	-	1	109	c.5C>T	c.(4-6)tCg>tTg	p.S2L	DSCR4_ENST00000398948.1_Missense_Mutation_p.S2L	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	2										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						gatgattaacgacatggacac	0.493000													5	41					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30451750	30451750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:30451750G>A	ENST00000278979.3	-	5	290	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	DUSP15_ENST00000339738.5_Missense_Mutation_p.H75Y|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.H72Y			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	72	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGCAGCAGTGGATGAAGTTG	0.552000													11	153					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173485	54173485	+	Missense_Mutation	SNP	G	G	A	rs147898099		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:54173485G>A	ENST00000259782.4	+	1	233	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.R42Q|TINAG_ENST00000370864.3_Missense_Mutation_p.R28Q	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	46					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CAAGGTACTCGATTCAAAAGA	0.428000													14	81					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951849	30951849	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30951849G>A	ENST00000402321.1	-	3	680	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GAL3ST1_ENST00000443111.2_Silent_p.F121F|GAL3ST1_ENST00000406955.1_Silent_p.F121F|GAL3ST1_ENST00000338911.5_Silent_p.F121F|GAL3ST1_ENST00000402369.1_Silent_p.F121F|GAL3ST1_ENST00000406361.1_Silent_p.F121F|GAL3ST1_ENST00000401975.1_Silent_p.F121F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	121					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGCTGCGGGCGAAGAAGGTCG	0.627000													14	173					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143718222	143718222	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:143718222C>T	ENST00000264170.4	+	8	870	c.612C>T	c.(610-612)atC>atT	p.I204I	KYNU_ENST00000409512.1_Silent_p.I204I|KYNU_ENST00000375773.2_Silent_p.I204I	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	204					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TAGAGGATATCCTTGAAGTAA	0.368000													8	42					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741536	81741536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81741536C>T	ENST00000550584.2	-	17	2303	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E571K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E670K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E237K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E670K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E652K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E596K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E670K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E652K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E517K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	596										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GATTCTTTTTCTTCCTGAATT	0.383000													5	41					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236961	23236961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23236961G>A	ENST00000400191.3	+	14	2607	c.2589G>A	c.(2587-2589)tgG>tgA	p.W863*	EPHB2_ENST00000374632.3_Nonsense_Mutation_p.W864*|EPHB2_ENST00000374627.1_Nonsense_Mutation_p.W858*|EPHB2_ENST00000374630.3_Nonsense_Mutation_p.W863*	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	863	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGACTGTTGGCAGAAGGACC	0.582000													14	153					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490278	141490278	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141490278C>T	ENST00000247883.4	+	1	262	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	39					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCAGAAAATTCAACTGGTCCT	0.458000													8	89					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81966989	81966989	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:81966989G>A	ENST00000282701.2	+	2	734	c.414G>A	c.(412-414)gaG>gaA	p.E138E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	138					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTATTGGAGAGCTAGGAAACA	0.418000													4	55					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626638	140626638	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140626638C>T	ENST00000231173.3	+	1	1492	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCCGCACCTGCCCCTCAC	0.667000													13	232					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067835	43067835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:43067835G>A	ENST00000267890.6	-	13	1604	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	499					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTCAGTACGGGACACAGCAGG	0.507000													5	119					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616001	179616001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179616001C>T	ENST00000360870.5	-	46	11348	c.11126G>A	c.(11125-11127)aGa>aAa	p.R3709K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9555	Ig-like 22.						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)			TAATGTTTTTCTAGCCTCCCT	0.343000													6	33					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120865425	120865425	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:120865425T>C	ENST00000313655.4	-	2	427	c.213A>G	c.(211-213)caA>caG	p.Q71Q		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	71					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAGCACAGCTTGCTCGTCTT	0.388000													6	93					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22012526	22012526	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:22012526G>A	ENST00000261200.4	-	20	2498	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.V797V|ABCC9_ENST00000261201.4_Silent_p.V833V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	833	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTACCAAAAAGACAATGTTGG	0.428000													9	115					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250983	35250983	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:35250983A>G	ENST00000329285.7	-	4	1096	c.723T>C	c.(721-723)gaT>gaC	p.D241D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTCGAATGACATCAGCCATAT	0.483000													11	101					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119900153	119900153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:119900153G>A	ENST00000464295.1	-	8	1197	c.752C>T	c.(751-753)tCc>tTc	p.S251F	GPR156_ENST00000461057.1_Missense_Mutation_p.S247F|GPR156_ENST00000315843.3_Missense_Mutation_p.S251F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	251						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CACAGGAGGGGAGCTGACATG	0.562000													5	81					0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97363571	97363571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:97363571G>A	ENST00000319273.5	+	4	529	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TAC1_ENST00000346867.4_Intron|TAC1_ENST00000350485.4_Missense_Mutation_p.E78K	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	78					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TTCCTCAATTGAAAAACAAGT	0.343000													3	44					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193218892	193218892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:193218892C>T	ENST00000367435.3	+	16	1634	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	484					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGATGAAGTTCGTCTGGATCC	0.338000													3	45					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701833	48701833	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48701833C>T	ENST00000352832.5	+	33	6333	c.5961C>T	c.(5959-5961)atC>atT	p.I1987I	CACNA1G_ENST00000505165.1_Silent_p.I2021I|CACNA1G_ENST00000514079.1_Silent_p.I2028I|CACNA1G_ENST00000515411.1_Silent_p.I2051I|CACNA1G_ENST00000507609.1_Silent_p.I2014I|CACNA1G_ENST00000507510.2_Silent_p.I2069I|CACNA1G_ENST00000515165.1_Silent_p.I2021I|CACNA1G_ENST00000515765.1_Silent_p.I2058I|CACNA1G_ENST00000503485.1_Silent_p.I1987I|CACNA1G_ENST00000514717.1_Silent_p.I1964I|CACNA1G_ENST00000359106.5_Silent_p.I2114I|CACNA1G_ENST00000429973.2_Silent_p.I2003I|CACNA1G_ENST00000512389.1_Silent_p.I2010I|CACNA1G_ENST00000513964.1_Silent_p.I1976I|CACNA1G_ENST00000354983.4_Silent_p.I2080I|CACNA1G_ENST00000442258.2_Silent_p.I1980I|CACNA1G_ENST00000358244.5_Silent_p.I1987I|CACNA1G_ENST00000513689.2_Silent_p.I2024I|CACNA1G_ENST00000360761.4_Silent_p.I1998I|CACNA1G_ENST00000510366.1_Silent_p.I1969I|CACNA1G_ENST00000510115.1_Silent_p.I2035I|CACNA1G_ENST00000502264.1_Silent_p.I2043I|CACNA1G_ENST00000507336.1_Silent_p.I2103I|CACNA1G_ENST00000514181.1_Silent_p.I1996I|CACNA1G_ENST00000507896.1_Silent_p.I2010I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2114					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGGCACCATCCCCAAACTGC	0.642000													5	17					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385037	41385037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:41385037G>A	ENST00000400454.1	-	33	6440	c.5963C>T	c.(5962-5964)tCc>tTc	p.S1988F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1988				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S1988F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATTCTTGGGAGCTGCTCAT	0.562000													10	52					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039077	75039077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75039077C>T	ENST00000326665.5	-	14	2535	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	773	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATTGCTTCTTTCTTCTCC	0.473000													4	63					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468048	74468048	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:74468048C>T	ENST00000249842.3	+	2	1206	c.849C>T	c.(847-849)ccC>ccT	p.P283P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P283P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	283	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCACCAGCCCCAACGTGGGCA	0.637000													14	188					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612411	20612411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20612411C>T	ENST00000333629.1	+	1	517	c.517C>T	c.(517-519)Cag>Tag	p.Q173*		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCCAAACCAGCTCGATAA	0.502000													9	71					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11287479	11287479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11287479G>A	ENST00000432929.2	-	7	1919	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	KANK2_ENST00000586659.1_Missense_Mutation_p.S512F|KANK2_ENST00000589359.1_Missense_Mutation_p.S520F|KANK2_ENST00000355150.5_Missense_Mutation_p.S512F|KANK2_ENST00000589894.1_Missense_Mutation_p.S512F	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	512										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAGTCCTCGGATGACGACTC	0.607000													8	61					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128632252	128632252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:128632252G>A	ENST00000335251.5	+	14	2657	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	852										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GACATTGGTGGAAGAGGTAGG	0.408000													4	29					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294354	110294354	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:110294354C>T	ENST00000369805.3	-	16	1717	c.1488G>A	c.(1486-1488)cgG>cgA	p.R496R	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.R465R|EPS8L3_ENST00000361965.4_Silent_p.R495R	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	495	SH3.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGTAGCCGCTCCGTCCCGCCT	0.627000													10	80					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350470	7350470	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7350470G>A	ENST00000306071.2	+	5	529	c.462_splice	c.e5+1	p.Q154_splice	CHRNB1_ENST00000576360.1_Splice_Site_p.Q82_splice|CHRNB1_ENST00000536404.2_Splice_Site_p.Q82_splice	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	154					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GCAGCATCCAGGTTTCCGGCC	0.582000													3	49					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192127853	192127853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:192127853G>A	ENST00000367460.3	+	1	267	c.86G>A	c.(85-87)gGa>gAa	p.G29E	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	29					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGGTTCAGGAAAAGAAGAA	0.279000													5	62					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356760	70356760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:70356760C>T	ENST00000333646.6	+	38	5631	c.5432C>T	c.(5431-5433)cCt>cTt	p.P1811L	MED12_ENST00000374102.1_Missense_Mutation_p.P1811L|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.P1811L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1811	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGGAGCGGCCCTTATGGTGTG	0.587000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	42					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098981	144098981	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144098981C>T	ENST00000467773.1	-	3	272	c.273G>A	c.(271-273)ggG>ggA	p.G91G	NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000483238.1_Silent_p.G91G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	91					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTTCCCTTTTCCCAGACACCA	0.458000													8	69					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547239	36547239	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36547239G>T	ENST00000273183.3	+	8	1133	c.831_splice	c.e8-1	p.G278_splice	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Splice_Site_p.G217_splice	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	278					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ctctttcAGGGATCTCTTTCC	0.338000													5	25					0.014758	0.014811	1	1	0
SPRR2F	6705	broad.mit.edu	37	1	153085178	153085178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:153085178G>A	ENST00000468739.1	-	2	92	c.32C>T	c.(31-33)cCc>cTc	p.P11L	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	11					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGCAGGGCTGCTTGCA	0.567000													10	198					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614640	247614640	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247614640C>T	ENST00000318749.6	-	1	668	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGATGAGAGCCAGGGGCACCA	0.587000													5	45					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222207	140222207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140222207C>T	ENST00000531613.1	+	1	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S434L|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.627000													17	202					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869338	174869338	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:174869338T>C	ENST00000393752.2	-	2	1757	c.765A>G	c.(763-765)caA>caG	p.Q255Q		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	255					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AACTTTCCGGTTGAGAACATT	0.478000													6	80					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387232	10387232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:10387232C>T	ENST00000397077.1	-	17	2979	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E847K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E847K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E833K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E802K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	847					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.E802K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCTGAGGCCTCCTTGGCCACG	0.587000													6	71					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545077	186545077	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:186545077C>T	ENST00000431808.1	-	14	2057	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.T402T|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Silent_p.T598T|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Silent_p.T498T|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	498						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T498T(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCACCTCCTCCGTGGAGCACT	0.572000													7	99					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683409	218683409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:218683409C>T	ENST00000171887.4	-	24	3786	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	TNS1_ENST00000419504.1_Missense_Mutation_p.E1099K|TNS1_ENST00000430930.1_Missense_Mutation_p.E1091K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1112	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAGCCAGACTCCAACAGAGGC	0.627000													6	87					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12198407	12198407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:12198407C>T	ENST00000287814.4	-	3	775	c.265G>A	c.(265-267)Gat>Aat	p.D89N	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	89	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TACTGAACATCCTTGACTTTC	0.388000													4	73					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23657640	23657640	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:23657640C>T	ENST00000305877.8	+	23	4498	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F	BCR_ENST00000359540.3_Silent_p.F1205F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1249					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCTGTACTTCCTGCAGCTGG	0.622000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								10	91					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219676954	219676954	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219676954C>T	ENST00000258415.4	+	3	883	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	152					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGGAAGGACACCACTGGTACC	0.542000													5	57					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359754	16359754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:16359754G>A	ENST00000354981.2	-	19	3050	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q965*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q965*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.Q191*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	965	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTTGCAGCTGGTTTGCATTG	0.443000													10	123					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247556	247556	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:247556C>T	ENST00000538872.1	+	4	1145	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.L343L|IQSEC3_ENST00000382841.2_Silent_p.L40L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	343	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CAACTCGCTTCTGGAGAGCCG	0.662000													3	33					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40081463	40081463	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:40081463C>T	ENST00000373233.3	-	21	3417	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1080					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCTGGATCTCGTGGGCCTTT	0.547000													6	56					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87795236	87795236	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87795236G>A	ENST00000398204.4	+	24	2489	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	ADAM22_ENST00000265727.7_Silent_p.K722K|ADAM22_ENST00000315984.7_Silent_p.K722K|ADAM22_ENST00000398201.4_Silent_p.K722K|ADAM22_ENST00000398209.3_Silent_p.K722K	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	722					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGATGCAAAGACTGGTATCA	0.383000													11	53					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74828873	74828873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:74828873G>A	ENST00000358399.3	+	5	637	c.544G>A	c.(544-546)Gag>Aag	p.E182K	GDA_ENST00000238018.4_Missense_Mutation_p.E182K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.E108K|GDA_ENST00000376989.3_Missense_Mutation_p.E157K|GDA_ENST00000376986.1_Missense_Mutation_p.E140K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	182					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGAATACAAGGAGACCACTGA	0.398000													12	83					0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11361866	11361866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11361866C>T	ENST00000312693.3	-	2	473	c.404G>A	c.(403-405)tGg>tAg	p.W135*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	135					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTTGGATTTCCATCCTAAGGG	0.443000													3	29					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163209	211163209	+	Missense_Mutation	SNP	C	C	T	rs141590730	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211163209C>T	ENST00000352451.3	-	3	386	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	MYL1_ENST00000341685.4_Missense_Mutation_p.R36Q|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	80	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCCCAGAGCTCGAAGGACATC	0.458000													3	54					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005190	74005190	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:74005190C>G	ENST00000476977.1	+	24	4126	c.2435C>G	c.(2434-2436)cCt>cGt	p.P812R	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P827R|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P812R|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P844R			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	827						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGCTGGTCCCTTATAAACTA	0.602000													4	73					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45778355	45778355	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:45778355G>A	ENST00000263736.4	-	12	1646	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	SRBD1_ENST00000535761.1_Silent_p.L47L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	528					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGTTAAAAGGAGCTGACGAA	0.388000													4	46					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140839	143140839	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143140839C>T	ENST00000332690.1	+	1	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	98					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTCTAGCTTTCCAGTGGGACT	0.478000													8	108					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50734081	50734081	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:50734081G>A	ENST00000442544.2	+	11	2371	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	DCC_ENST00000412726.1_Silent_p.L433L|DCC_ENST00000581580.1_Silent_p.L240L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	585	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTATAAACTGGAAGGCCTGA	0.373000													4	61					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084807	64084807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:64084807G>A	ENST00000295902.6	-	8	3040	c.2455C>T	c.(2455-2457)Ccc>Tcc	p.P819S	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P875S|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	819						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GAAGATTTGGGGAGGCCGTAG	0.502000													7	125					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174967	63174967	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:63174967C>T	ENST00000322893.7	-	11	2494	c.2226G>A	c.(2224-2226)caG>caA	p.Q742Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	742					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCTCCATTCTGTAAGGAGC	0.532000													9	62					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910459	52910459	+	Silent	SNP	G	G	A	rs60062350		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52910459G>A	ENST00000252242.4	-	7	1791	c.1401C>T	c.(1399-1401)atC>atT	p.I467I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	467	Coil 2.|Rod.		I -> T (in DM-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAAGTGGCGATCTCCACGT	0.587000													21	271					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88211797	88211797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:88211797G>A	ENST00000298767.5	-	15	3513	c.3041C>T	c.(3040-3042)tCc>tTc	p.S1014F	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1014	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ACTACAGATGGAAGAATCAAA	0.428000													9	99					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77333740	77333740	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77333740G>A	ENST00000393774.3	+	13	1525	c.1401G>A	c.(1399-1401)gtG>gtA	p.V467V		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	467										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TCAGGGAGGTGATAAAGAAGC	0.567000													9	50					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665636	64665636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64665636G>A	ENST00000421419.2	-	34	4900	c.4786C>T	c.(4786-4788)Ctc>Ttc	p.L1596F	ATG2A_ENST00000377264.3_Missense_Mutation_p.L1594F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1594							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGGAAGAAGAGGGCATCCTGC	0.622000											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	107					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555577	102555577	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:102555577C>T	ENST00000251808.3	+	2	467	c.129C>T	c.(127-129)ccC>ccT	p.P43P	GRHL2_ENST00000395927.1_Silent_p.P27P	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	43	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGAGAATCCCCTGACAGCAG	0.547000													8	97					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970044	118970044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:118970044G>A	ENST00000515256.1	+	3	773	c.601G>A	c.(601-603)Gac>Aac	p.D201N				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	201						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACAGAATCAGACAGCCTGCC	0.587000													5	98					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124094432	124094432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124094432G>A	ENST00000368994.2	+	14	1455	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Missense_Mutation_p.G401R			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	401										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGCTCTATATGGATTCTTCTT	0.353000													17	141					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97439158	97439158	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:97439158A>T	ENST00000389672.5	+	15	2876	c.2838A>T	c.(2836-2838)aaA>aaT	p.K946N		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	851						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCTACAGAAAATTCTCCTCAG	0.448000													8	99					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366243	15366243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15366243G>A	ENST00000263377.2	-	10	2133	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	BRD4_ENST00000371835.4_Nonsense_Mutation_p.Q638*|BRD4_ENST00000360016.5_Nonsense_Mutation_p.Q638*	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	638					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCCGTGACTGGATGATGTGC	0.577000			T	C15orf55	lethal midline carcinoma of young people								5	89					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24918042	24918042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24918042G>A	ENST00000449109.2	+	10	957	c.673G>A	c.(673-675)Gga>Aga	p.G225R	SLC5A11_ENST00000567758.1_Silent_p.S322S|SLC5A11_ENST00000539472.1_Silent_p.S293S|SLC5A11_ENST00000568579.1_Silent_p.S287S|SLC5A11_ENST00000565769.1_Silent_p.S293S|SLC5A11_ENST00000569071.1_Missense_Mutation_p.G225R|SLC5A11_ENST00000347898.3_Silent_p.S357S|SLC5A11_ENST00000545376.1_Silent_p.S287S|SLC5A11_ENST00000424767.2_Silent_p.S322S	NM_001258414.1	NP_001245343.1	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	381					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CAGGCTGTTCGGACATCGCGT	0.552000											OREG0023688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	75					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41002212	41002212	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41002212C>T	ENST00000253799.3	+	4	2145	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	AOC2_ENST00000452774.2_Silent_p.F679F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	706					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTATAACTTCTTTGATGAGG	0.572000													28	266					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443229	1443229	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:1443229C>T	ENST00000270349.9	-	2	211	c.84G>A	c.(82-84)gaG>gaA	p.E28E	SLC6A3_ENST00000453492.2_Silent_p.E28E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	28					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGAGCTCCACCTCCTTCGGGC	0.632000													4	67					0	0	1	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047302	23047302	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:23047302C>T	ENST00000390307.2	+	0	404																											TGAGGACAATCCCTCAGTGAC	0.532000													5	43					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96651519	96651519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:96651519G>A	ENST00000222598.4	-	2	991	c.518C>T	c.(517-519)tCg>tTg	p.S173L	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.S173L	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	173					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAATCCCAGCGAGGCGGCCAG	0.577000													17	168					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55540336C>T	ENST00000220676.1	+	4	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1298					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGCTTGTTTCCTAGGAGAGG	0.413000													18	141					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327822	48327822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:48327822G>A	ENST00000428869.2	-	7	740	c.482C>T	c.(481-483)gCc>gTc	p.A161V	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Missense_Mutation_p.A161V|MRO_ENST00000398439.3_Missense_Mutation_p.A161V|MRO_ENST00000431965.2_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.A175V|MRO_ENST00000588444.1_Intron			Q9BYG7	MSTRO_HUMAN	maestro	161						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCCGGCAAAGGCAGCCAATTG	0.463000													13	141					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10687890	10687890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10687890C>T	ENST00000590923.1	-	9	1120	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	AP1M2_ENST00000250244.6_Missense_Mutation_p.S344N			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	344	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGACTTAATACTCCAAATCAC	0.582000													3	39					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196874238	196874238	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:196874238G>A	ENST00000367416.2	+	3	391	c.253_splice	c.e3-1	p.R85_splice	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCTATTTTAGGAACATGCTCA	0.264000													3	12					0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780107	137780107	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:137780107C>T	ENST00000378339.2	+	4	378	c.186C>T	c.(184-186)ttC>ttT	p.F62F	REEP2_ENST00000506158.1_Silent_p.F24F|REEP2_ENST00000254901.5_Silent_p.F62F	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	62						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAACAGGTTCCCCTTCTACT	0.612000													7	122					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794561	141794561	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141794561C>T	ENST00000475668.2	+	63	7410	c.7356C>T	c.(7354-7356)atC>atT	p.I2452I	MGAM_ENST00000549489.2_Silent_p.I1556I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1556					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCAGATATCTGTGGGTTCT	0.483000													3	40					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483341	56483341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:56483341G>A	ENST00000370765.6	-	23	5598	c.5491C>T	c.(5491-5493)Ctt>Ttt	p.L1831F	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1242					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)			TCATCCTCAAGTTTCTGACAT	0.398000													10	95					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100057780	100057780	+	Missense_Mutation	SNP	C	C	T	rs139053416		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100057780C>T	ENST00000508393.1	-	6	641	c.476G>A	c.(475-477)gGa>gAa	p.G159E	ADH4_ENST00000505590.1_Missense_Mutation_p.G159E|ADH4_ENST00000265512.7_Missense_Mutation_p.G140E|ADH4_ENST00000423445.1_Missense_Mutation_p.G159E|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	140					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.G140E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AACTGGTTTTCCTTTGCAGGT	0.348000													4	57					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079879	31079879	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31079879C>A	ENST00000259870.3	-	2	260	c.257G>T	c.(256-258)gGc>gTc	p.G86V		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	86										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGGTGGGAAGCCATCTGATGC	0.602000													7	58					7.48243e-07	7.55268e-07	1	1	0
KIAA1804	84451	broad.mit.edu	37	1	233514958	233514958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233514958G>A	ENST00000366624.3	+	9	2467	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	MLK4_ENST00000366622.1_Missense_Mutation_p.G182R	NM_032435.2	NP_115811.2																					GGTGGCTCTGGGACTGGACCT	0.527000													7	79					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110828825	110828825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:110828825C>T	ENST00000375820.4	-	36	3125	c.3004G>A	c.(3004-3006)Ggt>Agt	p.G1002S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1002	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGAGCACCTGGGGTTCCA	0.488000													4	95					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9754728	9754728	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9754728C>T	ENST00000383832.3	+	10	805	c.615C>T	c.(613-615)atC>atT	p.I205I	CPNE9_ENST00000383831.3_Silent_p.I205I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	205	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCTTCAGCATCCCTGTGCGGG	0.537000													6	66					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150318954	150318954	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150318954C>G	ENST00000324862.6	+	14	1995	c.1830C>G	c.(1828-1830)aaC>aaG	p.N610K	PRPF3_ENST00000414970.2_Missense_Mutation_p.N561K|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	610					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AGACATCTAACACAAAGGGAG	0.483000													4	75					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170223	58170223	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:58170223A>T	ENST00000309403.2	-	1	659	c.660T>A	c.(658-660)ttT>ttA	p.F220L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGATGGTGATAAAAATGAATG	0.393000													3	41					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181798	47181798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47181798G>A	ENST00000447411.1	-	4	433	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S76F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	76					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTCCAAAGGAAGTGGTTCC	0.433000													3	33					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046067	201046067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:201046067G>A	ENST00000362061.3	-	12	2034	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A603V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	603					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	gctgatgagggCTTGGGGAAA	0.542000													8	146					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34014343	34014343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34014343G>A	ENST00000297161.2	+	7	897	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	BMPER_ENST00000426693.1_Missense_Mutation_p.E175K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	175	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCAGTATCAAGAAGGGGAGGA	0.483000													15	140					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216491	78216491	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:78216491C>T	ENST00000171757.2	+	4	754	c.474C>T	c.(472-474)atC>atT	p.I158I	P2RY10_ENST00000544091.1_Silent_p.I158I|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	158						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I158I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCTGGATCGTTGTGGGGA	0.493000													5	25					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644219	37644219	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:37644219G>A	ENST00000356958.4	-	5	840	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ZNF585A_ENST00000392157.2_Silent_p.S139S|ZNF585A_ENST00000355533.2_Silent_p.S139S|ZNF585A_ENST00000292841.5_Silent_p.S139S|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAAAAAAGGATTTTCCAC	0.403000													13	94					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23221108	23221108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23221108G>A	ENST00000300061.2	+	7	1258	c.1115G>A	c.(1114-1116)tGc>tAc	p.C372Y	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	372					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.C372F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TACAGTCAGTGCACGGAGGAC	0.602000													9	114					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222568	140222568	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140222568C>T	ENST00000531613.1	+	1	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.F554F|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.701000													12	156					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001280	17001280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17001280G>A	ENST00000248076.3	+	2	1336	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	336					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGCTGCGTGGATCCCTTCAT	0.657000													4	32					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381462	156381462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156381462C>T	ENST00000274532.2	-	2	420	c.364G>A	c.(364-366)Gat>Aat	p.D122N	TIMD4_ENST00000407087.3_Missense_Mutation_p.D122N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	122	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTTTACATCGTTGAACCAG	0.507000													7	49					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64957927	64957927	+	Silent	SNP	C	C	T	rs150042544	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:64957927C>T	ENST00000399438.3	+	11	1293	c.948C>T	c.(946-948)acC>acT	p.T316T	TRAPPC13_ENST00000545191.1_Silent_p.T317T|TRAPPC13_ENST00000505553.1_Silent_p.T310T|TRAPPC13_ENST00000231526.4_Silent_p.T310T|TRAPPC13_ENST00000438419.2_Silent_p.T316T	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		TACCAGATACCGTAAACCTTG	0.393000													3	46					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440374	103440374	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:103440374C>T	ENST00000361246.2	-	12	1908	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	540					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCCTTCTCCTGCCGGACCA	0.602000													6	101					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102338566	102338566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102338566C>T	ENST00000395065.3	-	4	507	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E47K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	136	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACACTGCATTCATTCTGAATC	0.463000													18	85					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83748758	83748758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:83748758G>A	ENST00000432794.1	-	25	3257	c.3094C>T	c.(3094-3096)Ccc>Tcc	p.P1032S	SEC31A_ENST00000355196.2_Missense_Mutation_p.P1019S|SEC31A_ENST00000500777.2_Missense_Mutation_p.P866S|SEC31A_ENST00000395310.2_Missense_Mutation_p.P1019S|SEC31A_ENST00000264405.5_Missense_Mutation_p.P768S|SEC31A_ENST00000509142.1_Missense_Mutation_p.P905S|SEC31A_ENST00000448323.1_Missense_Mutation_p.P1019S|SEC31A_ENST00000505984.1_Missense_Mutation_p.P965S|SEC31A_ENST00000513858.1_Missense_Mutation_p.P866S|SEC31A_ENST00000505472.1_Missense_Mutation_p.P1050S|SEC31A_ENST00000508502.1_Missense_Mutation_p.P1004S|SEC31A_ENST00000348405.4_Missense_Mutation_p.P980S|SEC31A_ENST00000311785.7_Missense_Mutation_p.P905S|SEC31A_ENST00000326950.5_Missense_Mutation_p.P980S|SEC31A_ENST00000443462.2_Missense_Mutation_p.P999S			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1019	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GATGTGATGGGAACAGGAGGC	0.433000													6	208					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183310	118183310	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:118183310G>A	ENST00000427715.2	+	10	1154	c.720G>A	c.(718-720)gaG>gaA	p.E240E	SLC30A8_ENST00000519688.1_Silent_p.E240E|SLC30A8_ENST00000456015.2_Silent_p.E289E|SLC30A8_ENST00000521243.1_Silent_p.E240E	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	289					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTGTGAAAGAGCTTATTTTAG	0.448000													6	102					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597323	75597323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:75597323G>A	ENST00000502798.2	+	12	2395	c.1953G>A	c.(1951-1953)tgG>tgA	p.W651*	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Nonsense_Mutation_p.W651*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	651					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTCAGCCTGGAACTCTCTTG	0.507000													24	189					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327214	16327214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:16327214G>A	ENST00000244769.4	-	8	2264	c.1328C>T	c.(1327-1329)cCa>cTa	p.P443L	ATXN1_ENST00000436367.1_Missense_Mutation_p.P443L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	443					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCGGGAGTGGCTCTGAAGC	0.622000													22	244					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187317	6187317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6187317G>A	ENST00000588304.1	+	12	1860	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ACSBG2_ENST00000591403.1_Missense_Mutation_p.E522K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E335K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E522K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E522K|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	522					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCTGGTGGTGAAAATGTGCC	0.483000													12	134					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179688771	179688771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:179688771C>T	ENST00000452135.2	-	5	661	c.363G>A	c.(361-363)atG>atA	p.M121I	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.M121I|MAPK9_ENST00000539014.1_Missense_Mutation_p.M121I|MAPK9_ENST00000343111.6_Missense_Mutation_p.M121I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.M121I|MAPK9_ENST00000425491.2_Missense_Mutation_p.M121I|MAPK9_ENST00000347470.4_Missense_Mutation_p.M121I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	121	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCAGCTCCATGTGAATAA	0.358000													22	212					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:129904176G>A	ENST00000368654.3	-	13	6303	c.5928C>T	c.(5926-5928)atC>atT	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	16 X 122 AA approximate repeats.				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)				ATACTTCTGTGATTTTGTCAT	0.473000													12	204					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664558	44664558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44664558C>T	ENST00000454036.1	+	4	567	c.491C>T	c.(490-492)tCc>tTc	p.S164F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S141F|SLC12A5_ENST00000539566.1_Missense_Mutation_p.S141F|SLC12A5_ENST00000372315.1_Missense_Mutation_p.S141F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	164					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCTGCTGCTCCTGTGTGAGT	0.612000													4	98					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:90741917G>A	ENST00000406263.1	+	12	1519	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	CDK14_ENST00000380050.3_Silent_p.K405K|CDK14_ENST00000265741.3_Silent_p.K387K|CDK14_ENST00000436577.2_Silent_p.K276K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	405	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GTTCCCCAAAGAACAGACTGT	0.502000													10	75					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122090	39122090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39122090C>T	ENST00000216044.5	+	7	1386	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	385					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCCTCTCCCCCCGCACCAG	0.567000													23	180					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924697	188924697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:188924697C>T	ENST00000326866.4	+	4	1144	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ZFP42_ENST00000509524.1_Missense_Mutation_p.R246W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	246					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGCCGTTTCGGTGCACTTT	0.522000													6	35					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408369	2408369	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2408369G>A	ENST00000332578.3	+	7	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	252	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCCGACGAAGTGGGTGG	0.657000													5	68					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233193016	233193016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233193016G>A	ENST00000258229.8	-	24	4331	c.4097C>T	c.(4096-4098)tCc>tTc	p.S1366F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S18F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1366						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCTTGTGTTGGAATTATCCAC	0.408000													3	20					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930886	133930886	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:133930886C>T	ENST00000298622.4	+	2	579	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAAGGGGTTCGAGGTGGAGA	0.627000													10	110					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866434	37866434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37866434C>T	ENST00000406381.2	+	8	1159	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	ERBB2_ENST00000584601.1_Missense_Mutation_p.P217S|ERBB2_ENST00000584450.1_Missense_Mutation_p.P247S|ERBB2_ENST00000578199.1_Missense_Mutation_p.P217S|ERBB2_ENST00000541774.1_Missense_Mutation_p.P232S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P217S|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Missense_Mutation_p.P247S|ERBB2_ENST00000540042.1_Missense_Mutation_p.P217S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	247					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGCACGGGCCCCAAGCACTC	0.642000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	94					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682496	65682496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65682496G>A	ENST00000352385.2	-	13	2614	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	802	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCCCACCTGGTGTAATAGGT	0.547000													13	110					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854222	88854222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:88854222C>T	ENST00000537554.1	-	2	4334	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CNR1_ENST00000428600.2_Missense_Mutation_p.E258K|CNR1_ENST00000468898.1_Missense_Mutation_p.E225K|CNR1_ENST00000369501.2_Missense_Mutation_p.E258K|CNR1_ENST00000549890.1_Missense_Mutation_p.E258K|CNR1_ENST00000549716.1_Missense_Mutation_p.E197K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.E258K|CNR1_ENST00000535130.1_Missense_Mutation_p.E258K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	258					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAGTTTCTCGCAGTTCCAG	0.527000													10	90					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6916361	6916361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6916361G>A	ENST00000312053.4	+	12	1439	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	EMR1_ENST00000381404.4_Missense_Mutation_p.E416K|EMR1_ENST00000381407.5_Missense_Mutation_p.E327K|EMR1_ENST00000450315.3_Missense_Mutation_p.E291K|EMR1_ENST00000250572.8_Missense_Mutation_p.E468K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	468	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCCACAATTGAGGAATCTGA	0.438000													9	143					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983223	97983223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:97983223G>A	ENST00000383696.2	+	1	136	c.95G>A	c.(94-96)gGa>gAa	p.G32E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCACAGGATTTTTACAT	0.398000													16	170					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433278	104433278	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:104433278G>A	ENST00000361820.3	-	3	2016	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	472					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	p.P472P(1)		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)	GCTTTCCCATGGGGTCATGTT	0.502000													24	121					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549468	56549468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56549468C>T	ENST00000390649.3	+	10	2693	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	898						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCCTGAAATCTCTGAGCCTG	0.547000													9	75					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133598	47133598	+	RNA	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:47133598C>A	ENST00000422732.2	-	0	435					NR_033957.1																						ccaccaccaccacgactgcca	0.478000													4	48					0.00024832	0.000249809	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39905798	39905798	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39905798G>A	ENST00000425673.1	+	3	601	c.276G>A	c.(274-276)gtG>gtA	p.V92V	PLEKHG2_ENST00000409794.3_Silent_p.V92V|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Silent_p.V92V|PLEKHG2_ENST00000378550.1_Silent_p.V92V			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	92					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTCCGGTGGGGATCCCAG	0.672000													3	17					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198719	55198719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55198719G>A	ENST00000340465.2	+	3	379	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	98						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACTGCTTGGAAAAAAATGT	0.294000													8	118					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52521359	52521359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:52521359C>T	ENST00000261839.7	-	25	3339	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1060						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGGGCCACTTCCGCCTTCAAG	0.522000													12	156					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546694	9546694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:9546694C>T	ENST00000378429.3	-	6	1874	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	PAK7_ENST00000353224.5_Missense_Mutation_p.G443E|PAK7_ENST00000378423.1_Missense_Mutation_p.G443E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	443	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTGGGGTCTCCTGGGCTGAC	0.607000													8	131					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711990	83711990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:83711990G>A	ENST00000566620.1	+	10	1752	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	CDH13_ENST00000428848.3_Missense_Mutation_p.E449K|CDH13_ENST00000268613.10_Missense_Mutation_p.E535K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	488	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GACCAGGCAGGAGGACCTCTC	0.622000													6	82					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:100382357G>A	ENST00000281806.2	-	5	938	c.624C>T	c.(622-624)ttC>ttT	p.F208F	MCHR2_ENST00000369212.1_Silent_p.F208F|MCHR2_ENST00000445970.1_Silent_p.F208F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343000													10	77					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482918	100482918	+	Missense_Mutation	SNP	G	G	A	rs150582291	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100482918G>A	ENST00000388793.4	+	10	1461	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	SRRT_ENST00000432932.1_Missense_Mutation_p.R414Q|SRRT_ENST00000347433.4_Missense_Mutation_p.R415Q|SRRT_ENST00000457580.2_Missense_Mutation_p.R415Q	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	415					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCAAGCCGCGGCCGCTGCAT	0.632000													12	73					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692161	17692161	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:17692161G>A	ENST00000399080.2	-	3	3413	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1130	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAATCCTGATTGGCCTAC	0.318000													3	27					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339195	16339195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:16339195G>A	ENST00000400202.1	-	3	2031	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	NRIP1_ENST00000318948.4_Missense_Mutation_p.P440L|NRIP1_ENST00000400199.1_Missense_Mutation_p.P440L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	440	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CAAGTCTATGGGAACACAGTT	0.388000													4	119					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922538	55922538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:55922538C>T	ENST00000288221.6	-	14	2698	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	815						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)		GCATCCAGTTCCTGTCTGGTC	0.512000													12	128					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003537	155003537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:155003537G>A	ENST00000302805.2	+	2	435	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	2					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCAAAATGGATGCTGCGGT	0.468000													17	187					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308470	140308470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140308470C>T	ENST00000253807.2	+	1	1993	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.P665S|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTTACTTCCAGACTTTGA	0.502000													7	120					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366817	40366817	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:40366817C>T	ENST00000406785.1	-	7	2351		c.e7-1		SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site|SLC8A1_ENST00000542756.1_Splice_Site|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site|SLC8A1_ENST00000405901.3_Splice_Site|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Splice_Site|SLC8A1_ENST00000405269.1_Splice_Site|SLC8A1_ENST00000402441.1_Splice_Site|SLC8A1_ENST00000403092.1_Splice_Site|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Splice_Site			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCTTCCCCTAGAGAGAAT	0.498000													10	92					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283337	152283337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152283337G>A	ENST00000368799.1	-	3	4060	c.4025C>T	c.(4024-4026)gCt>gTt	p.A1342V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1342	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATGACACAGCCTGTCCATG	0.552000									Ichthyosis				73	607					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045750	9045750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9045750C>T	ENST00000397910.4	-	5	36084	c.35881G>A	c.(35881-35883)Gga>Aga	p.G11961R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11963	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						GGACTCACTCCTTCTCCATGA	0.478000													6	88					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076714	62076714	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:62076714T>A	ENST00000354587.3	-	3	567	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	KCNQ2_ENST00000360480.3_Missense_Mutation_p.I131F|KCNQ2_ENST00000359125.2_Missense_Mutation_p.I131F|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I131F|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I131F|KCNQ2_ENST00000370222.3_Missense_Mutation_p.I131F|KCNQ2_ENST00000430658.1_Missense_Mutation_p.I131F|KCNQ2_ENST00000370226.1_Missense_Mutation_p.I131F|KCNQ2_ENST00000344462.3_Missense_Mutation_p.I131F|KCNQ2_ENST00000370221.1_Missense_Mutation_p.I131F|KCNQ2_ENST00000344425.5_Missense_Mutation_p.I131F|KCNQ2_ENST00000359689.1_Missense_Mutation_p.I131F			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	131					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATAGTCACGATTTCCTGCAGG	0.657000													7	77					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984278	7984278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7984278G>A	ENST00000319144.4	-	4	711	c.451C>T	c.(451-453)Cct>Tct	p.P151S	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	151	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGCAGGCCAGGAAGAAAGACT	0.642000										Multiple Myeloma(8;0.094)			7	80					0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3529541	3529541	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3529541G>T	ENST00000407558.4	+	4	484	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	NAA60_ENST00000424546.2_Missense_Mutation_p.G68C|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000576916.1_Missense_Mutation_p.G61C|NAA60_ENST00000421765.3_Missense_Mutation_p.G61C|NAA60_ENST00000414063.2_Missense_Mutation_p.G61C|NAA60_ENST00000577013.1_Missense_Mutation_p.G61C|NAA60_ENST00000575076.1_Missense_Mutation_p.G61C|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000570819.1_Missense_Mutation_p.G61C|NAA60_ENST00000360862.5_5'UTR|NAA60_ENST00000572942.1_Missense_Mutation_p.G61C|NAA60_ENST00000570551.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000572584.1_Missense_Mutation_p.G61C	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	61	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						AACCTACAGAGGTGCCATTGT	0.443000													8	56					1.33987e-11	1.35735e-11	1	1	0
PCDHA9	9752	broad.mit.edu	37	5	140228535	140228535	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140228535T>A	ENST00000378122.3	+	1	1179	c.455T>A	c.(454-456)tTt>tAt	p.F152Y	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.F152Y|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTCGGTTTCCACTAGAG	0.552000													7	67					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794318	15794318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15794318T>A	ENST00000550308.1	+	7	1043	c.663T>A	c.(661-663)taT>taA	p.Y221*	CYP4F12_ENST00000324632.9_Nonsense_Mutation_p.Y221*	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAGTGAATATATTGCCACCA	0.542000													8	101					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654189	61654189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61654189C>T	ENST00000397985.2	+	7	1058	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	SERPINB8_ENST00000542677.1_Missense_Mutation_p.L86F|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.L268F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	268					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TCAAGTTTTCCTTCCCAGATT	0.398000													8	88					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547846	35547846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:35547846C>T	ENST00000262878.4	-	7	972	c.773G>A	c.(772-774)gGt>gAt	p.G258D	SAMHD1_ENST00000373694.5_Missense_Mutation_p.G43D	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	258	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGGGATGAGACCATATTGTTC	0.353000													5	62					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326952	28326952	+	Silent	SNP	G	G	A	rs138611712	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28326952G>A	ENST00000354638.3	-	2	224	c.69C>T	c.(67-69)tcC>tcT	p.S23S	OCA2_ENST00000353809.5_Silent_p.S23S|OCA2_ENST00000382996.2_Silent_p.S23S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	23					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGCTGGGCACGGACGTCTGCA	0.711000									Oculocutaneous Albinism				3	30					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820065	113820065	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113820065G>A	ENST00000393200.2	+	5	440	c.279G>A	c.(277-279)aaG>aaA	p.K93K	IL36RN_ENST00000346807.3_Silent_p.K93K	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	93						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTGGTGCCAAGGAATCCAAGA	0.632000													3	66					0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38976768	38976768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:38976768G>A	ENST00000313117.6	-	3	526	c.289C>T	c.(289-291)Cga>Tga	p.R97*	SRSF7_ENST00000446327.2_Nonsense_Mutation_p.R97*|SRSF7_ENST00000409276.1_Nonsense_Mutation_p.R97*	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	97					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGGACGTCGGGCAGGTGGT	0.463000													18	123					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019765	56019765	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56019765G>A	ENST00000303059.3	+	1	90	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATATACAGGAATCCACTGA	0.358000													7	68					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50492968	50492968	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:50492968A>G	ENST00000599538.1	-	11	1688	c.1024T>C	c.(1024-1026)Tac>Cac	p.Y342H	VRK3_ENST00000601341.1_Missense_Mutation_p.Y292H|VRK3_ENST00000443401.2_Missense_Mutation_p.Y111H|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601912.1_Missense_Mutation_p.Y292H|VRK3_ENST00000594948.1_Missense_Mutation_p.Y342H|VRK3_ENST00000594092.1_Missense_Mutation_p.Y342H|VRK3_ENST00000593919.1_Missense_Mutation_p.Y342H|VRK3_ENST00000377011.2_Missense_Mutation_p.Y292H|VRK3_ENST00000316763.3_Missense_Mutation_p.Y342H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	342	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCTTCCACGTAGGCCACGTGT	0.577000													8	34					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216060	20216060	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20216060C>T	ENST00000331723.1	+	1	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCACTCTATCATGCAGGTCA	0.507000													4	35					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55980371	55980371	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:55980371T>A	ENST00000263923.4	-	6	1015	c.720A>T	c.(718-720)gaA>gaT	p.E240D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	240	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGACAAGCTTTTCTCCAACAG	0.393000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			4	60					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330948	21330948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21330948G>A	ENST00000313654.9	+	5	992	c.751G>A	c.(751-753)Gag>Aag	p.E251K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E251K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	251	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCCTGAGGGAGTTTACCAA	0.458000													8	108					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729610	196729610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196729610C>T	ENST00000312428.6	-	41	6869	c.6769G>A	c.(6769-6771)Gat>Aat	p.D2257N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2257					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						ACCATGCCATCATTATCAAAA	0.393000													5	77					0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112392637	112392637	+	Missense_Mutation	SNP	G	G	A	rs17856920		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:112392637G>A	ENST00000368662.5	-	12	1484	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	469				P -> R (in Ref. 4; AAH31101).	centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GCTTAGTCTGGGTAAATCCTG	0.363000													14	142					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18532154	18532154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:18532154G>A	ENST00000330537.6	-	19	2376	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	NOMO2_ENST00000543392.1_Missense_Mutation_p.P569S|NOMO2_ENST00000381474.3_Missense_Mutation_p.P736S	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	736						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TGCACGGGAGGCTTGGTCATT	0.562000													22	244					0	0	1	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45258223	45258223	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45258223G>A	ENST00000517296.3	+	17	1680	c.1680G>A	c.(1678-1680)ttG>ttA	p.L560L	ARHGAP8_ENST00000389773.5_Silent_p.L472L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L481L|ARHGAP8_ENST00000356099.6_Silent_p.L350L|ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Silent_p.L381L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L560L					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GGCTGAATTTGATCTGGCCAT	0.522000													9	120					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10569321	10569321	+	Missense_Mutation	SNP	G	G	A	rs138941727		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10569321G>A	ENST00000396439.2	-	5	576	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178C|KLRC3_ENST00000381903.2_Missense_Mutation_p.R178C|KLRC3_ENST00000381904.2_Missense_Mutation_p.R178C	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.R178C(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCTGTTACGAAACACACCA	0.294000													6	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610457	179610457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179610457C>T	ENST00000360870.5	-	46	16892	c.16670G>A	c.(16669-16671)aGa>aAa	p.R5557K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9027	Ig-like 36.						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)			AGTGAACCTTCTTCCTTGGAC	0.423000													4	54					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131833327	131833327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:131833327C>T	ENST00000359827.3	-	26	5701	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1580Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1580						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTGTTCAGTCGCTTCCAATC	0.522000													8	116					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701646	179701646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179701646C>T	ENST00000420890.2	-	23	4417	c.4300G>A	c.(4300-4302)Gga>Aga	p.G1434R	CCDC141_ENST00000295723.5_Missense_Mutation_p.G859R|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	859							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGGAAATCCTGTTACTTCA	0.438000													4	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976784	8976784	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8976784C>T	ENST00000397910.4	-	73	42485	c.42282G>A	c.(42280-42282)aaG>aaA	p.K14094K	MUC16_ENST00000380951.5_Silent_p.K735K|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14125				Missing (in Ref. 3; AAK74120).	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						TAGCTGAGCCCTTGCCCATAT	0.572000													6	51					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836053	12836053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12836053C>T	ENST00000357726.4	+	2	682	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	219								p.L219F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTCCATTCTTATAAGGTT	0.517000													13	156					0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19459311	19459311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19459311G>A	ENST00000263202.9	-	4	319	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.P64S|UFD1L_ENST00000360834.4_Missense_Mutation_p.P53S	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	64					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					AACAGCATGGGATAGGTAATG	0.517000													8	93					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25338387	25338387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:25338387C>T	ENST00000255324.5	+	1	98	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.Q16*|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Nonsense_Mutation_p.Q16*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	16					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTCTTCCTACCAGCGAATGGG	0.622000													8	47					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67323518	67323518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67323518C>T	ENST00000304372.5	-	16	2790	c.2735G>A	c.(2734-2736)aGg>aAg	p.R912K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	912						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGAGACAGACCTAGACAGGCC	0.537000													11	121					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138651672	138651672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:138651672G>A	ENST00000298480.5	+	11	1076	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	KCNT1_ENST00000486577.2_Missense_Mutation_p.M295I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M334I|KCNT1_ENST00000491806.2_Missense_Mutation_p.M301I|KCNT1_ENST00000263604.3_Missense_Mutation_p.M315I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M315I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M289I|KCNT1_ENST00000490355.2_Missense_Mutation_p.M315I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	334						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGGTCATCATGATCTGCGTGG	0.632000													7	58					0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30804488	30804488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:30804488C>T	ENST00000375749.3	+	4	568	c.506C>T	c.(505-507)tCc>tTc	p.S169F	POFUT1_ENST00000375730.3_Missense_Mutation_p.S169F|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	169					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGCATTTCCTTCAGTGCT	0.507000													5	101					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207109156	207109156	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:207109156C>T	ENST00000356495.4	-	5	1236	c.1053G>A	c.(1051-1053)acG>acA	p.T351T		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	351	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCGGGGAATCGTGGACTCTG	0.607000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702343	20702343	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20702343C>T	ENST00000307493.4	-	1	235	c.168G>A	c.(166-168)ctG>ctA	p.L56L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.L56L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	56					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCAGTAGTCCAGTACATAAC	0.473000													7	64					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257718	77257718	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77257718C>T	ENST00000376896.2	+	4	1236	c.624C>T	c.(622-624)acC>acT	p.T208T	RORB_ENST00000396204.2_Silent_p.T219T	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	219	Hinge (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			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGGGATAACCATGACTGAAA	0.393000													9	99					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562000													5	113					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9588787	9588787	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:9588787G>A	ENST00000400556.3	-	5	433	c.360C>T	c.(358-360)aaC>aaT	p.N120N	PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.N103N|RP11-881L2.1_ENST00000584109.1_RNA	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	120					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTGAAGGCCGGTTTTCTTGAC	0.393000													6	66					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482644	71482644	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71482644G>A	ENST00000393539.2	-	6	2097	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	ZNF23_ENST00000564528.1_Silent_p.A370A|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Silent_p.A428A|ZNF23_ENST00000417828.1_Silent_p.A428A|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000428724.2_Silent_p.A370A|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TACATCTGAAGGCTTTCCCGC	0.463000													4	75					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065574	35065574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35065574G>A	ENST00000382002.5	-	10	1912	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	PRLR_ENST00000342362.5_Nonsense_Mutation_p.Q395*|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.Q395*|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	496					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTTTCTCCTGGGGCAGCAGC	0.488000													8	96					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54403597	54403597	+	Silent	SNP	C	C	T	rs146308617		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:54403597C>T	ENST00000566473.2	+	3	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	ANKFN1_ENST00000318698.2_Silent_p.F26F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	26										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAAGGAGATTCGCTTGCTTTG	0.413000													4	68					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29408455C>T	ENST00000444197.2	+	1	1373	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGTATCCTCGTTACCATCT	0.592000													16	258					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037538	87037538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87037538C>T	ENST00000265723.4	-	25	3205	c.3094G>A	c.(3094-3096)Gga>Aga	p.G1032R	ABCB4_ENST00000545634.1_Missense_Mutation_p.G1032R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G985R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G1032R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G985R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1032					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTTATATTTCCTTCAAATTTA	0.368000													8	44					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18242180	18242180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18242180G>A	ENST00000229002.2	-	2	244	c.38C>T	c.(37-39)tCt>tTt	p.S13F	RERGL_ENST00000541632.1_Intron|RERGL_ENST00000538724.1_Intron|RERGL_ENST00000536890.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	13	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.S13F(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AACAGAAACAGATTTCTCATT	0.333000													3	21					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2279163	2279163	+	Silent	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2279163C>G	ENST00000268989.3	+	18	2655	c.2478C>G	c.(2476-2478)gcC>gcG	p.A826A	SGSM2_ENST00000426855.2_Silent_p.A781A|SGSM2_ENST00000574563.1_Silent_p.A781A|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	781	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTGCGGCTGCCTACACTGTGC	0.672000													10	72					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81941314	81941314	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81941314A>G	ENST00000359376.3	+	16	1706	c.1492A>G	c.(1492-1494)Att>Gtt	p.I498V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	498					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTACTGCGCCATTGCCGATGC	0.557000													6	85					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476012	42476012	+	Missense_Mutation	SNP	G	G	A	rs145593760	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42476012G>A	ENST00000434000.1	-	9	3481	c.3199C>T	c.(3199-3201)Ctt>Ttt	p.L1067F	GPATCH8_ENST00000591680.1_Missense_Mutation_p.L1145F			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1145						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCAGTGGAAGGACAGGCTTA	0.552000													22	281					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242644105	242644105	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242644105C>T	ENST00000313552.6	+	2	101	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.F25F	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	25					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAGGAACTTCCAGCTGATGC	0.512000													16	152					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324822	150324822	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150324822C>T	ENST00000328902.5	-	3	1080	c.864G>A	c.(862-864)ggG>ggA	p.G288G	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288							GTP binding	p.G288G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCAGCCTTCCCCAGCAGGC	0.582000													4	118					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911419	79911419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:79911419G>A	ENST00000438737.2	-	19	2991	c.2551C>T	c.(2551-2553)Ctt>Ttt	p.L851F	RBM26_ENST00000267229.7_Missense_Mutation_p.L824F|RBM26_ENST00000438724.1_Missense_Mutation_p.L827F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	851					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCAGATGAAAGAATCCCTCGT	0.517000													11	128					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592575	125592575	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:125592575A>T	ENST00000504087.1	-	4	2894	c.1857T>A	c.(1855-1857)gcT>gcA	p.A619A	ANKRD50_ENST00000515641.1_Silent_p.A440A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	619										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGCCACCCCAAGCAGCAGATC	0.448000													4	109					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178563038	178563038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:178563038C>T	ENST00000251582.7	-	13	2058	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	653	Cys-rich.				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)		TGGCATCTCTCCTTGGCTGGA	0.602000													16	163					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049444	23049444	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23049444C>T	ENST00000221132.3	-	10	1234	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	390	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCTCATTTTTCGTGAGGTCCA	0.522000													7	89					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94335415	94335415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:94335415G>A	ENST00000436063.2	-	7	2320	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTAATTGCGAAATTTCTTC	0.323000													4	12					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754581	141754581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141754581G>A	ENST00000475668.2	+	27	3241	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1063K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1063					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATCGGTATGAAGTTCCAGT	0.418000													12	217					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760607	176760607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176760607G>A	ENST00000367662.3	+	19	6173	c.5009G>A	c.(5008-5010)gGa>gAa	p.G1670E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1670	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGAACAAGGATATGGGATT	0.383000													6	77					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843385	38843385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38843385G>A	ENST00000359357.3	+	51	7242	c.6988G>A	c.(6988-6990)Ggg>Agg	p.G2330R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2294R|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2547R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTCTGGAAGGGTTAATTCC	0.299000													4	35					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211533	81211533	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81211533G>A	ENST00000599697.1	-	14	2315	c.2316C>T	c.(2314-2316)ccC>ccT	p.P772P	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	772	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACCTCACGGGGAGGCACAG	0.612000													5	83					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728628	50728628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50728628G>A	ENST00000449103.1	-	3	526	c.386C>T	c.(385-387)tCc>tTc	p.S129F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S129F			O15031	PLXB2_HUMAN	plexin B2	129	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCGGAGGGAGATGTTGCT	0.652000													3	41					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410406	105410406	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105410406C>T	ENST00000333244.5	-	7	11501	c.11382G>A	c.(11380-11382)aaG>aaA	p.K3794K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3794						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACATCCTTGTCGGCCA	0.582000													87	511					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21124509	21124509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:21124509C>T	ENST00000377122.4	-	14	1778	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	461					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCTTGCATTCCTTTCCCTTT	0.448000													11	191					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123263380	123263380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:123263380C>T	ENST00000358487.5	-	10	1635	c.1363G>A	c.(1363-1365)Gca>Aca	p.A455T	FGFR2_ENST00000369060.4_Missense_Mutation_p.A339T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A366T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A341T|FGFR2_ENST00000356226.4_Missense_Mutation_p.A338T|FGFR2_ENST00000478859.1_Missense_Mutation_p.A227T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A453T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A453T|FGFR2_ENST00000457416.2_Missense_Mutation_p.A456T|FGFR2_ENST00000369061.4_Missense_Mutation_p.A343T|FGFR2_ENST00000360144.3_Missense_Mutation_p.A367T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A456T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	455					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGGTGTCTGCCGTTGAAGAG	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	56					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89537428	89537428	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:89537428C>T	ENST00000329758.1	-	3	538	c.210G>A	c.(208-210)ttG>ttA	p.L70L	TRIM49_ENST00000532501.2_Silent_p.L70L	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	70						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCATCTTCTTCAAATGAATGT	0.443000													5	41					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844845	47844845	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47844845C>T	ENST00000595464.1	+	2	1007	c.789C>T	c.(787-789)tcC>tcT	p.S263S	C5AR2_ENST00000257267.2_Silent_p.S263S|C5AR2_ENST00000600626.1_Silent_p.S263S	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		CCCCGAACTCCGCACTCCTGG	0.657000													7	78					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868018	7868018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7868018C>T	ENST00000345088.2	+	2	439	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGGCGGAGTTCGTACGGTATG	0.483000													9	71					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679686	100679686	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100679686C>T	ENST00000306151.4	+	3	5053	c.4989C>T	c.(4987-4989)atC>atT	p.I1663I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1663	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)					GTCCTGTGATCACTTCTACTG	0.473000													38	483					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22284557	22284557	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22284557G>A	ENST00000324559.8	+	17	2183	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	622						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGAAACAGATTTTTGGAA	0.358000													4	58					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52551896	52551896	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52551896G>A	ENST00000321725.6	+	45	4714		c.e45-1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCTGACTCAGAACAATGGAG	0.587000													6	86					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928725	40928725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:40928725C>T	ENST00000411995.2	+	6	1444	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	ZFP69B_ENST00000361584.3_Missense_Mutation_p.H255Y|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		TGTTAGAATTCATACCGGGGA	0.438000													3	43					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019936	20019936	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20019936C>T	ENST00000551509.1	-	1	336	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	95										endometrium(4)|kidney(1)|lung(4)	9						CCATCTTGCTCCTGAGTGTCT	0.627000													7	371					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81372783	81372783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:81372783G>A	ENST00000222390.5	-	7	977	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	HGF_ENST00000444829.2_Missense_Mutation_p.P251S|HGF_ENST00000457544.2_Missense_Mutation_p.P246S|HGF_ENST00000453411.1_Missense_Mutation_p.P246S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	251	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCTTGTCGGGATATCTGCAA	0.502000													7	65					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746259	111746259	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:111746259T>C	ENST00000261726.6	+	14	1341	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	396						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						GACTCACTGCTTATTGCAAAG	0.617000													6	30					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453331	64453331	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64453331C>T	ENST00000265459.6	-	6	1400	c.939G>A	c.(937-939)gaG>gaA	p.E313E	NRXN2_ENST00000377551.1_Silent_p.E313E|NRXN2_ENST00000409571.1_Silent_p.E313E|NRXN2_ENST00000377559.3_Silent_p.E289E	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	313	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGTGTGATCTCATCAGTGC	0.572000													12	138					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158014138	158014138	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158014138C>T	ENST00000359775.5	+	3	1414	c.525C>T	c.(523-525)ccC>ccT	p.P175P	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.P175P			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	175						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TTTTCCGGCCCCCTCGCGCCT	0.597000													9	71					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221124	5221124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5221124C>T	ENST00000321255.1	-	1	806	c.807G>A	c.(805-807)atG>atA	p.M269I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACGGTGCACCATTGTGAGGC	0.478000													6	32					0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82665378	82665378	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:82665378G>A	ENST00000297265.4	+	2	463	c.270G>A	c.(268-270)gaG>gaA	p.E90E		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	90	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CTACCATTGAGTTCCAGAGAG	0.443000													3	56					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389748	22389748	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:22389748G>A	ENST00000334304.5	-	19	3815	c.3546C>T	c.(3544-3546)agC>agT	p.S1182S	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1182					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)				CTGTGAGTCGGCTTGCCCGGT	0.493000													5	43					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111267	23111267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23111267C>T	ENST00000400191.3	+	3	527	c.509C>T	c.(508-510)tCc>tTc	p.S170F	EPHB2_ENST00000374632.3_Missense_Mutation_p.S170F|EPHB2_ENST00000544305.1_Missense_Mutation_p.S170F|EPHB2_ENST00000374627.1_Missense_Mutation_p.S164F|EPHB2_ENST00000374630.3_Missense_Mutation_p.S170F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	170					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCTGTGTCCCGCAGCGGC	0.607000													4	34					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713986	183713986	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:183713986A>T	ENST00000511685.1	+	26	6284	c.6161A>T	c.(6160-6162)gAg>gTg	p.E2054V	TENM3_ENST00000406950.2_Missense_Mutation_p.E2054V					teneurin transmembrane protein 3																		GGCAAAGTTGAGCAGTTTGGA	0.403000													4	63					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899249	36899249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36899249C>T	ENST00000429976.2	-	12	2079	c.1832G>A	c.(1831-1833)aGg>aAg	p.R611K	TRANK1_ENST00000301807.6_Missense_Mutation_p.R61K|TRANK1_ENST00000428977.2_Missense_Mutation_p.R61K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	611					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCCGGCTCCTCCTCCTGTT	0.542000													8	117					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788311	10788311	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:10788311G>A	ENST00000283025.2	-	1	491	c.420C>T	c.(418-420)aaC>aaT	p.N140N		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	140					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCTGGCCCAGGTTCCGGCAGG	0.607000													19	203					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36983535	36983535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36983535G>A	ENST00000300105.6	-	2	1253	c.272C>T	c.(271-273)gCt>gTt	p.A91V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	91					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTGTGTCAGCTTCGTAATC	0.483000													19	214					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27399008	27399008	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27399008C>T	ENST00000521400.1	+	16	1828	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	EPHX2_ENST00000521780.1_Silent_p.Y400Y|EPHX2_ENST00000518379.1_Silent_p.Y434Y|EPHX2_ENST00000517536.1_Silent_p.Y283Y|EPHX2_ENST00000380476.3_Silent_p.Y413Y	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	466	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TAAACTGGTACCGAAACATGG	0.537000													8	92					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65494255	65494255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65494255C>T	ENST00000261883.4	-	8	1307	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	381	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCCCAGCATCACTCTGGGCC	0.577000													9	64					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991372	47991372	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:47991372A>G	ENST00000371741.4	-	2	891	c.725T>C	c.(724-726)aTg>aCg	p.M242T		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	242					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)			CAGGTACTCCATGGTGAACCA	0.567000													6	67					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73072345	73072345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:73072345C>T	ENST00000545377.1	+	6	840	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.Q222*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.Q222*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.Q222*|ARHGEF28_ENST00000426542.2_Nonsense_Mutation_p.Q222*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.Q222*	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TTTCAGTTTTCAGGGCAGATG	0.512000													3	34					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510261	16510261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:16510261G>A	ENST00000502640.1	-	7	936	c.788C>T	c.(787-789)tCc>tTc	p.S263F	LDB2_ENST00000441778.2_Missense_Mutation_p.S263F|LDB2_ENST00000503178.2_Missense_Mutation_p.S139F|LDB2_ENST00000304523.5_Missense_Mutation_p.S263F|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.S263F			O43679	LDB2_HUMAN	LIM domain binding 2	263							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTGCTGGTGGAATTTTTCCT	0.493000													3	49					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9090993	9090993	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:9090993C>T	ENST00000457346.2	-	5	641	c.567G>A	c.(565-567)aaG>aaA	p.K189K	SCUBE2_ENST00000450649.2_Silent_p.K189K|SCUBE2_ENST00000309263.3_Silent_p.K189K|SCUBE2_ENST00000520467.1_Silent_p.K189K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	189	EGF-like 4 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTGGGGCCTCCTTGCAGATGT	0.557000													13	142					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248759	20248759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20248759C>T	ENST00000315957.4	+	1	359	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGATAATTTCCTTTGGTGGA	0.448000													20	213					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497827	95497827	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95497827G>A	ENST00000432432.2	-	0	1016					NR_040113.1																						ACTTTCTCGGGGACACACTGC	0.353000													14	129					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14802994	14802994	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:14802994G>A	ENST00000253697.3	+	15	2819	c.2367G>A	c.(2365-2367)ggG>ggA	p.G789G	C3orf20_ENST00000435614.1_Silent_p.G667G|C3orf20_ENST00000412910.1_Silent_p.G667G	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	789						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TTGCCGGGGGGAAGCTCATTT	0.483000													6	62					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109863281	109863281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:109863281G>A	ENST00000424296.2	-	27	3395	c.3319C>T	c.(3319-3321)Ctt>Ttt	p.L1107F	AK9_ENST00000355283.1_Missense_Mutation_p.L186F|AK9_ENST00000341338.6_Missense_Mutation_p.L186F	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CACTCAGAAAGAATTACTTCA	0.299000													3	21					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216769	134216769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:134216769G>A	ENST00000359579.4	+	3	664	c.344G>A	c.(343-345)gGa>gAa	p.G115E	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	115					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGGCCACAGGGATTCAAGGTT	0.507000													12	142					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716367	23716367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23716367C>T	ENST00000256797.4	-	8	1003	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	ERN2_ENST00000457008.2_Missense_Mutation_p.G231S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	231				T -> A (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTGTAGACGCCCATCACAGGC	0.677000													4	48					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688200	130688200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:130688200G>A	ENST00000388747.4	-	8	753	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.P34S|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	237	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGAACAAGGGGGCTGCCCTCA	0.582000													23	82					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174860	51174860	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174860G>C	ENST00000440970.1	-	2	1413	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.Q425E	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	425					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTTTTCTTTGCTGGGCCAAG	0.498000													18	160					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2936550	2936550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2936550G>A	ENST00000314531.4	-	3	375	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTGGTGCTGATCTCCAGTG	0.443000													9	55					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518537	123518537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:123518537C>T	ENST00000422452.2	-	30	6307	c.6244G>A	c.(6244-6246)Gag>Aag	p.E2082K	TENM1_ENST00000371130.3_Missense_Mutation_p.E2075K|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCAAACTGCTCTGTTCTGCCA	0.383000													4	51					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290694	121290694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:121290694C>T	ENST00000297848.3	+	28	3628	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R1120*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R1025*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1120	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGTATGTTCGAGATACCTT	0.398000													4	44					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3846815	3846815	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3846815G>A	ENST00000309890.7	-	11	1439	c.1287_splice	c.e11-1	p.A430_splice	ATP2A3_ENST00000397035.3_Splice_Site_p.A430_splice|ATP2A3_ENST00000397041.3_Splice_Site_p.A430_splice|ATP2A3_ENST00000359983.3_Splice_Site_p.A430_splice|ATP2A3_ENST00000352011.3_Splice_Site_p.A430_splice|ATP2A3_ENST00000397043.3_Splice_Site_p.A430_splice|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	430					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACACCCTTGGCCTGGCAAGG	0.627000													22	195					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576270	12576270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:12576270G>A	ENST00000397732.3	-	4	637	c.466C>T	c.(466-468)Cga>Tga	p.R156*	ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R156*|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAAATGAACTT	0.353000													10	94					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195595280	195595280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:195595280G>A	ENST00000333602.6	-	12	2461	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	TNK2_ENST00000428187.1_Missense_Mutation_p.P647L|TNK2_ENST00000392400.1_Missense_Mutation_p.P615L|TNK2_ENST00000381916.2_Missense_Mutation_p.P693L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	615	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGTGCAGGGGCCGGGGCAG	0.731000													8	40					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986153	42986153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42986153C>T	ENST00000326974.4	+	6	787	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	KLHDC3_ENST00000332245.8_Missense_Mutation_p.R139C|KLHDC3_ENST00000244670.8_Missense_Mutation_p.R64C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	198					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTTGGGGGCCGTGCCGACCG	0.577000													4	55					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134898	45134898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:45134898G>A	ENST00000296129.1	-	6	1632	c.1498C>T	c.(1498-1500)Ccg>Tcg	p.P500S		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	500	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGCCTCCCGGGCAGAAGGAG	0.597000													4	77					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350809	101350809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101350809G>A	ENST00000534062.1	-	1	375	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	106										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGCCTGGTGTGAACCGTTGCA	0.537000													12	64					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281277	142281277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142281277C>T	ENST00000350721.4	-	4	1088	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ATR_ENST00000383101.3_Missense_Mutation_p.E323K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	323					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAGTTTTTCCAGCAGCATA	0.368000								Other conserved DNA damage response genes					11	102					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101052308	101052308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101052308G>A	ENST00000360863.6	-	13	2140	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	RGS22_ENST00000523437.1_Missense_Mutation_p.T637I|RGS22_ENST00000523287.1_Missense_Mutation_p.T468I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	649					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTGACACGGTTTTAACCTA	0.348000													4	31					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536693	27536693	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27536693C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGGCTGCTTTCCTGTGGTTAG	0.408000													4	32					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293975	45293975	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:45293975A>G	ENST00000447098.2	-	13	1713	c.1702T>C	c.(1702-1704)Ttc>Ctc	p.F568L	PTCH2_ENST00000372192.3_Missense_Mutation_p.F568L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	568					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TACCTGGAGAAGCAGCAGAGC	0.627000									Basal Cell Nevus syndrome				3	46					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585524	43585524	+	RNA	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43585524T>A	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGCTTCGCTGTCCCTGGGATA	0.517000													4	88					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38448420	38448420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38448420G>A	ENST00000322350.5	+	18	2828	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	EGFLAM_ENST00000336740.6_Missense_Mutation_p.E594K|EGFLAM_ENST00000397202.2_Missense_Mutation_p.E194K|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E836K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	836						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGAAGCCATTGAGATCCCGCA	0.483000													20	212					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67020265	67020265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67020265C>T	ENST00000529006.2	+	18	3315	c.2869C>T	c.(2869-2871)Ctt>Ttt	p.L957F	KDM2A_ENST00000530342.1_Missense_Mutation_p.L518F|KDM2A_ENST00000308783.5_Missense_Mutation_p.L415F|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCCAGTCAGCCTTGACCTCAG	0.537000											OREG0021121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	49					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611661	50611661	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:50611661C>T	ENST00000444124.2	-	2	323	c.123G>A	c.(121-123)ctG>ctA	p.L41L	DDC_ENST00000431062.1_Silent_p.L41L|DDC_ENST00000426377.1_Silent_p.L41L|DDC_ENST00000380984.4_Silent_p.L41L|DDC_ENST00000357936.5_Silent_p.L41L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	41					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CGGCAGGGATCAGCGGCCGCA	0.572000													20	231					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763235	20763235	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:20763235G>A	ENST00000382844.1	-	1	684	c.486C>T	c.(484-486)tcC>tcT	p.S162S	GJB2_ENST00000382848.4_Silent_p.S162S			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	162					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GCCGCTGCATGGAGAAGCCGT	0.552000									Keratitis, Ichthyosis and Deafness syndrome				4	61					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87641241	87641241	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:87641241G>A	ENST00000320005.5	-	12	1433	c.1386C>T	c.(1384-1386)acC>acT	p.T462T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	462					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						TGTAGGCAATGGTGTCATCCA	0.453000													17	185					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21799382	21799382	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:21799382G>A	ENST00000318220.6	+	9	1588	c.540G>A	c.(538-540)gaG>gaA	p.E180E	NBPF3_ENST00000454000.2_Silent_p.E166E|NBPF3_ENST00000318249.5_Silent_p.E236E|NBPF3_ENST00000342104.5_Silent_p.E236E			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	236						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGGCTGAGAAAGTACAGG	0.423000													10	73					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807590	143807590	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143807590G>A	ENST00000408979.2	+	1	984	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGCACTCCAGAGGAAGAGGT	0.443000													7	98					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430789	37430789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37430789G>A	ENST00000374660.1	+	7	895	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E266K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E266K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTTGGTGGAAAAAACACC	0.478000													3	36					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153035405	153035405	+	Silent	SNP	C	C	T	rs147489207	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153035405C>T	ENST00000285900.5	+	5	1015	c.672C>T	c.(670-672)atC>atT	p.I224I	GRIA1_ENST00000518783.1_Silent_p.I234I|GRIA1_ENST00000448073.4_Silent_p.I234I|GRIA1_ENST00000518142.1_Silent_p.I144I|GRIA1_ENST00000521843.2_Silent_p.I155I|GRIA1_ENST00000340592.5_Silent_p.I224I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	224					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAATGGCATCGGCTACCACT	0.443000													8	59					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130953884	130953884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:130953884C>T	ENST00000312988.7	-	2	164	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	22					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGTACAGTTCCCAGCAGGCA	0.512000													12	237					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715330	68715330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:68715330G>A	ENST00000325631.5	+	2	192	c.118G>A	c.(118-120)Gca>Aca	p.A40T	MARVELD2_ENST00000413223.2_Missense_Mutation_p.A40T	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	40					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGTGAGCGGGCAGTGAGCGC	0.562000													9	88					0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553243	124553243	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124553243G>A	ENST00000517956.1	-	1	203	c.12C>T	c.(10-12)ctC>ctT	p.L4L	FBXO32_ENST00000443022.2_Silent_p.L4L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	4										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTCCTGCCCGAGGAATGGCA	0.697000													7	45					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51880872	51880872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:51880872C>T	ENST00000581310.1	-	4	445	c.72G>A	c.(70-72)tgG>tgA	p.W24*	STARD6_ENST00000584040.1_Nonsense_Mutation_p.W24*|STARD6_ENST00000307844.3_Nonsense_Mutation_p.W24*|STARD6_ENST00000577499.1_Nonsense_Mutation_p.W24*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	24	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TAACCACTTTCCAGCCTGATG	0.294000													6	87					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41374853	41374853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:41374853G>A	ENST00000551295.2	+	16	2064	c.1947G>A	c.(1945-1947)tgG>tgA	p.W649*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W649*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W638*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	649	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGATGACTGGAAAGATGCAA	0.363000													5	74					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059114	152059114	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152059114C>T	ENST00000368806.1	-	3	1108	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	348							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACCCAAATTCTTTGTTTTAG	0.423000													11	210					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577850	16577850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16577850G>A	ENST00000375592.3	-	10	1685	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	490										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTTCTGATCTGGTAGTGATCC	0.473000													11	64					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421295	40421295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40421295C>T	ENST00000221347.6	-	5	2633	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	876	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCGGCCGTCGAAGCTCACA	0.677000													4	6					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15378342	15378342	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15378342T>C	ENST00000263377.2	-	4	665	c.444A>G	c.(442-444)ttA>ttG	p.L148L	BRD4_ENST00000371835.4_Silent_p.L148L|BRD4_ENST00000360016.5_Silent_p.L148L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	148					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTCTGCCATTAAGACTATGT	0.517000			T	C15orf55	lethal midline carcinoma of young people								10	141					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276186	152276186	+	Missense_Mutation	SNP	G	G	A	rs145171931	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276186G>A	ENST00000368799.1	-	3	11211	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3726	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCCCGTCCATGGGCA	0.607000									Ichthyosis				14	316					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797432	38797432	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38797432C>T	ENST00000449082.2	-	10	1307	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	436					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGTGTCAATCCCTAGTGCTG	0.498000													5	76					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114395762	114395762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:114395762G>A	ENST00000545145.2	-	6	743	c.665C>T	c.(664-666)tCt>tTt	p.S222F	RBM19_ENST00000261741.5_Missense_Mutation_p.S222F|RBM19_ENST00000392561.3_Missense_Mutation_p.S222F	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	222					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCCGAGGAAGAGGACGACCC	0.552000													14	135					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182822	6182822	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6182822A>T	ENST00000588304.1	+	9	1263	c.817A>T	c.(817-819)Att>Ttt	p.I273F	ACSBG2_ENST00000591403.1_Missense_Mutation_p.I323F|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I136F|ACSBG2_ENST00000586696.1_Missense_Mutation_p.I323F|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I323F|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	323					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGCCTCAAATTTGGGAGAA	0.463000													4	33					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476888	20476888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20476888G>A	ENST00000573854.1	+	3	341	c.227G>A	c.(226-228)gGg>gAg	p.G76E	ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G76E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G76E|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G76E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G76E|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	76					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AATGGGAAGGGGAAGGAATTA	0.572000													3	73					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115335595	115335595	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:115335595G>C	ENST00000357872.4	+	7	1635	c.1511G>C	c.(1510-1512)aGc>aCc	p.S504T	AQPEP_ENST00000395528.2_Missense_Mutation_p.S21T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		504					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTTACTTACAGCAAGGTAAAA	0.373000													3	80					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835722	12835722	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12835722G>A	ENST00000357726.4	+	2	351	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	108										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGAATGTGGATGAGAACT	0.527000													16	252					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118891771	118891771	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:118891771A>C	ENST00000277905.2	-	4	754	c.510T>G	c.(508-510)aaT>aaG	p.N170K		NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	0						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GAGACTCATCATTTGCTGGCT	0.473000													10	60					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96333775	96333775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96333775C>T	ENST00000348459.5	+	8	641	c.536C>T	c.(535-537)tCg>tTg	p.S179L	HELLS_ENST00000394044.1_Missense_Mutation_p.S179L|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.S179L|HELLS_ENST00000371332.4_Missense_Mutation_p.S179L	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	179					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AATAAAGATTCGAATAGTATA	0.333000													13	113					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061499	71061499	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71061499C>T	ENST00000321489.5	-	20	3198	c.3048G>A	c.(3046-3048)agG>agA	p.R1016R	HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393567.2_Intron|HYDIN_ENST00000448691.1_Silent_p.R1016R	NM_017558.3	NP_060028.2	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTGCTATCCCCTTACCCTGG	0.453000													3	71					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136124	46136124	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46136124C>T	ENST00000362042.3	+	6	2056	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	NFE2L1_ENST00000585291.1_Silent_p.S450S|NFE2L1_ENST00000583378.1_Silent_p.S281S|NFE2L1_ENST00000361665.3_Silent_p.S469S|NFE2L1_ENST00000357480.5_Silent_p.S450S|NFE2L1_ENST00000582155.1_Silent_p.S292S|NFE2L1_ENST00000536222.1_Silent_p.S324S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	480					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCCTTTCCTTAGACTCGA	0.522000													10	128					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431570	36431570	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36431570T>C	ENST00000588831.1	+	3	2297	c.1243T>C	c.(1243-1245)Tct>Cct	p.S415P	LRFN3_ENST00000246529.3_Missense_Mutation_p.S415P			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	415					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCGCTGCCTCTGCTTCTGC	0.677000													8	160					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14755604	14755604	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:14755604C>T	ENST00000253697.3	+	8	1703	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	C3orf20_ENST00000435614.1_Silent_p.F295F|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Silent_p.F295F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	417						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TACCTGGATTCTCCTTGCTGG	0.498000													7	74					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30124660	30124660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30124660G>A	ENST00000216144.3	+	3	636	c.295G>A	c.(295-297)Gga>Aga	p.G99R		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	99	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GACCCTTCTGGGACCCAAACT	0.577000													7	76					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527679	65527679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:65527679C>T	ENST00000310193.3	-	4	1134	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	321					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGGTCAATTTCGTCACGCACT	0.488000													6	55					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87082366	87082366	+	Nonsense_Mutation	SNP	G	G	A	rs72552780		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87082366G>A	ENST00000265723.4	-	6	541	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R144*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R144*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R144*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R144*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	144	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGATCTGTCGACCAGCTGCC	0.408000													9	74					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223450	35223450	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35223450G>A	ENST00000338513.1	+	2	692	c.519G>A	c.(517-519)gtG>gtA	p.V173V		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	173					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCAATATAGTGGACTGCTTCA	0.512000													6	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113237016	113237016	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113237016A>T	ENST00000297405.5	-	71	11352	c.11108T>A	c.(11107-11109)gTt>gAt	p.V3703D	CSMD3_ENST00000343508.3_Missense_Mutation_p.V3663D|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3534D|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3633D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3703						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						CATTGTGCAAACCGTGTTCAA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	171					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673412	72673412	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:72673412C>T	ENST00000373514.2	+	2	562	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGATTGGAGCTGGAAAAGGA	0.403000													4	10					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051844	17051844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:17051844C>T	ENST00000418129.2	+	2	1093	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	PLCL2_ENST00000432376.1_Missense_Mutation_p.H210Y|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.H210Y	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	336	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H210Y(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGAGGTTTTTCATGAGCTTTG	0.338000													11	33					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:126128661G>A	ENST00000299308.3	+	6	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	488						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAATGGGAAGGAAATGAAGAG	0.483000													7	85					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245421	46245421	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46245421C>T	ENST00000296140.3	-	2	509	c.384G>A	c.(382-384)acG>acA	p.T128T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	128					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACCTGTCAATCGTCAGCAGGA	0.512000													7	40					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759173	54759173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54759173C>T	ENST00000450632.1	-	5	978	c.901G>A	c.(901-903)Gac>Aac	p.D301N	LILRB5_ENST00000449561.2_Missense_Mutation_p.D310N|LILRB5_ENST00000316219.5_Missense_Mutation_p.D310N|LILRB5_ENST00000345866.6_Missense_Mutation_p.D210N			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	310	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGGGGGTCGCTGGGGGCC	0.667000													12	73					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15777212	15777212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:15777212G>A	ENST00000281172.5	-	19	2610	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	EPS8_ENST00000542903.1_Missense_Mutation_p.S465F|EPS8_ENST00000540613.1_Missense_Mutation_p.S465F|EPS8_ENST00000543523.1_Missense_Mutation_p.S725F|EPS8_ENST00000543612.1_Missense_Mutation_p.S725F	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	725					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTCTGGTGTGGAGTCGTAAGT	0.468000													7	77					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198229	170198229	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:170198229C>T	ENST00000231706.4	-	7	2157	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	614						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTGCAGGATCACAAACACCA	0.542000													6	88					0	0	1	0	0
RDH11	51109	broad.mit.edu	37	14	68157131	68157131	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:68157131G>A	ENST00000381346.4	-	5	572	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RDH11_ENST00000428130.2_Intron|RDH11_ENST00000553384.1_Silent_p.F141F	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	154					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGGTTAGGAGGAAGTGACCTG	0.478000													7	111					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873319	55873319	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55873319C>T	ENST00000313503.1	+	1	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGTCTTATTCCTTGGGAAGAG	0.368000										HNSCC(53;0.14)			6	45					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226748	39226748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:39226748G>A	ENST00000340369.3	-	2	4417	c.4189C>T	c.(4189-4191)Ccc>Tcc	p.P1397S	XIRP1_ENST00000421646.1_Missense_Mutation_p.P80S|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1397							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTAAGCTGGGCTGGCTATGT	0.597000													9	69					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79301097	79301097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:79301097G>A	ENST00000264895.6	+	27	3950	c.3510G>A	c.(3508-3510)tgG>tgA	p.W1170*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.W1170*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1169					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTTTAGCTGGAAAGATGTGA	0.453000													7	70					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43607032	43607032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43607032G>A	ENST00000360835.3	-	18	2405	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	760					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTGCCGACGGGGCAGCGGAT	0.652000													5	71					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168849266	168849266	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:168849266G>A	ENST00000264674.3	-	4	330	c.192C>T	c.(190-192)ttC>ttT	p.F64F	MECOM_ENST00000494292.1_Silent_p.F188F|MECOM_ENST00000460814.1_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000468789.1_5'UTR|MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000464456.1_5'UTR	NM_001105077.3	NP_001098547.3	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	95							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						CGCTCTTCATGAACAGCAGAA	0.458000													4	24					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094893	91094893	+	Silent	SNP	G	G	A	rs11556994		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:91094893G>A	ENST00000265431.3	-	1	214	c.33C>T	c.(31-33)atC>atT	p.I11I		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	11	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTGAGGCTGTGATGAGGGATG	0.527000													24	200					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4833743	4833743	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:4833743G>A	ENST00000268231.8	-	6	800	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SEPT12_ENST00000396693.5_Silent_p.F133F	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	179					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCCGCTGCAGGAACTCAATGT	0.657000													10	54					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108179190	108179190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108179190C>T	ENST00000273353.3	-	18	2005	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	650	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTTTCTTTCGTTTCTTCTC	0.318000													3	14					0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120053861	120053861	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120053861A>G	ENST00000295628.3	-	3	850	c.755T>C	c.(754-756)gTt>gCt	p.V252A		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	252										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TAAATCTCTAACAAAACGAAC	0.398000													3	25					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730323	80730323	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:80730323T>C	ENST00000458043.2	+	39	4710	c.4704T>C	c.(4702-4704)tgT>tgC	p.C1568C	OTOGL_ENST00000547103.1_Silent_p.C1556C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCGAAAAATGTTCCATGAATC	0.343000													3	43					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29440777	29440777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:29440777G>A	ENST00000544604.2	+	5	818	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNRF3_ENST00000402174.1_Missense_Mutation_p.E115K|ZNRF3_ENST00000406323.3_Missense_Mutation_p.E115K|ZNRF3_ENST00000332811.4_Missense_Mutation_p.E115K	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	215						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAACCCACTGAATACTTTGA	0.512000													21	86					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768122	45768122	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45768122G>A	ENST00000357450.4	-	13	2108	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	SMC1B_ENST00000404354.3_Silent_p.T703T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	703					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTGTATCAGGGTCTGTATTT	0.333000													9	37					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18961634	18961634	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:18961634G>A	ENST00000420770.2	+	3	434	c.351G>A	c.(349-351)aaG>aaA	p.K117K	PAX7_ENST00000375375.3_Silent_p.K117K|PAX7_ENST00000400661.3_Silent_p.K117K	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	117	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGAGAAAAAGATTGAGGAGT	0.532000			T	FOXO1A	alveolar rhabdomyosarcoma								16	128					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38912193	38912193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38912193C>T	ENST00000450244.1	-	22	4000	c.3802G>A	c.(3802-3804)Gat>Aat	p.D1268N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1230N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D1268N|SCN11A_ENST00000302328.3_Missense_Mutation_p.D1268N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1268					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTGTGGAATCAACAGCTGCA	0.403000													9	78					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445206	49445206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:49445206G>A	ENST00000301067.7	-	10	2259	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAGGCCGGGGGGACAGGTGC	0.692000													3	39					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173178	161173178	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161173178C>T	ENST00000308192.9	+	18	2220	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAAGGAAGCCCAGCTCCCTG	0.468000													4	42					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143092431	143092431	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143092431C>T	ENST00000275815.3	-	12	2150	c.2064G>A	c.(2062-2064)ctG>ctA	p.L688L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	688	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CGACGCCTTCCAGATGCAGAA	0.542000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	872					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39477501	39477501	+	Silent	SNP	C	C	T	rs143077923		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39477501C>T	ENST00000407997.3	+	4	849	c.492C>T	c.(490-492)ttC>ttT	p.F164F	APOBEC3G_ENST00000452957.2_Silent_p.F164F|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.F164F(1)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GGAGCAAGTTCGTGTACAGCC	0.483000													12	170					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221123	5221123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5221123C>T	ENST00000321255.1	-	1	807	c.808G>A	c.(808-810)Gtg>Atg	p.V270M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACGGTGCACCATTGTGAGG	0.473000													6	32					0	0	1	0	0
APOBEC3A	200315	broad.mit.edu	37	22	39357683	39357683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39357683G>A	ENST00000402255.1	+	4	670	c.466G>A	c.(466-468)Gat>Aat	p.D156N	APOBEC3A_ENST00000249116.2_Missense_Mutation_p.D156N					apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					CATGACCTACGATGGTAAGAA	0.562000													8	80					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739953	38739953	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38739953C>T	ENST00000449082.2	-	27	4757	c.4758G>A	c.(4756-4758)ctG>ctA	p.L1586L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1586					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCTCGGATCAGTCTGAGGA	0.527000													6	108					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24460608	24460608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24460608C>T	ENST00000230036.1	-	12	1017	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	303						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTGTGAAAATCATTTTTCTGC	0.363000													8	108					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16374434	16374434	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16374434G>A	ENST00000375679.4	+	5	504	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGTTGGCGGGTGTGGTCT	0.582000													24	123					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599476	179599476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179599476C>T	ENST00000589042.1	-	51	15399	c.15175G>A	c.(15175-15177)Gac>Aac	p.D5059N	TTN_ENST00000591111.1_Missense_Mutation_p.D4742N|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D3815N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4742	Ig-like 31.						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)			CTGCCGACGTCATTCACTGCT	0.363000													8	97					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133531	55133531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:55133531G>A	ENST00000257290.5	+	6	1166	c.835G>A	c.(835-837)Gag>Aag	p.E279K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	279	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACGGTCCCCGAGGCCACGGT	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			4	74					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24772027	24772027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24772027G>A	ENST00000221166.5	+	1	1503	c.721G>A	c.(721-723)Gag>Aag	p.E241K	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E241K|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E241K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	241	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCACGAGGAGGAGGTGGCCGA	0.602000													5	52					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50684306	50684306	+	Silent	SNP	G	G	A	rs114490473	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50684306G>A	ENST00000355832.5	-	12	2415	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	ERCC6_ENST00000542458.1_Silent_p.F149F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	779					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGAATCAACGAAATTTTGGT	0.368000								Direct reversal of damage;Nucleotide excision repair (NER)					5	57					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152195654	152195654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152195654C>T	ENST00000368801.2	-	2	151	c.76G>A	c.(76-78)Gat>Aat	p.D26N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	26	EF-hand 1.|S-100-like.				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)			TTCAACGTATCATACTCCCCA	0.413000													6	147					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185535	8185535	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185535G>A	ENST00000520004.1	-	5	3021	c.2757C>T	c.(2755-2757)tcC>tcT	p.S919S	SGK223_ENST00000330777.4_Silent_p.S919S			Q86YV5	SG223_HUMAN		919							ATP binding|non-membrane spanning protein tyrosine kinase activity										CGCTCAGCTGGGAGGATGAGG	0.677000													4	51					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82544905G>A	ENST00000423517.2	-	7	12734	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4064					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						GTCCCTCTACGAAATTCCTGT	0.408000													6	42					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903668	20903668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:20903668G>A	ENST00000381552.1	+	14	2226	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G571R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G502R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G620R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G620R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	620					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCTCAAATGGGGATTTAAAAG	0.373000													9	80					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030999	49030999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:49030999G>A	ENST00000380950.2	-	27	4767	c.4580C>T	c.(4579-4581)tCt>tTt	p.S1527F	CEP152_ENST00000399334.3_Missense_Mutation_p.S1471F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1471					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTTTCATTAGAATCGCGAAA	0.403000													6	43					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114395761	114395761	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:114395761A>T	ENST00000545145.2	-	6	744	c.666T>A	c.(664-666)tcT>tcA	p.S222S	RBM19_ENST00000261741.5_Silent_p.S222S|RBM19_ENST00000392561.3_Silent_p.S222S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	222					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCTCCGAGGAAGAGGACGACC	0.552000													14	132					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188459	98188459	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:98188459C>T	ENST00000332650.5	+	1	136	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAGTTTATCCTCACAGGAT	0.398000													6	66					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482531	20482531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20482531G>A	ENST00000573854.1	+	5	847	c.733G>A	c.(733-735)Gat>Aat	p.D245N	ACSM2A_ENST00000417235.2_Missense_Mutation_p.D166N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D245N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D245N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D17N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D245N|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	245					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCCAAGATGGATGCTGGGTA	0.473000													9	54					0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182662918	182662918	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:182662918G>A	ENST00000292782.4	-	7	897	c.744C>T	c.(742-744)cgC>cgT	p.R248R	DCUN1D1_ENST00000469954.1_Silent_p.R233R	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	248	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAATTTGAGGGCGTGCAAATT	0.373000													4	50					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526136	68526136	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68526136G>A	ENST00000433211.1	-	9	1341	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	CTNNA3_ENST00000373744.4_Silent_p.F389F|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	389					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCGTATCCAGGAAAGAGTCTG	0.388000													9	41					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232347	117232347	+	Missense_Mutation	SNP	G	G	A	rs35722447		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117232347G>A	ENST00000003084.6	+	14	2258	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	CFTR_ENST00000454343.1_Missense_Mutation_p.R648Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	709					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACTCTATACGAAAATTTTCC	0.383000									Cystic Fibrosis				8	61					0	0	1	0	0
SNORD114-31	767612	broad.mit.edu	37	14	101459645	101459645	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101459645C>T	ENST00000363219.1	+	0	73					NR_003224.1																						CTCTGAGGTTCAATATAATAG	0.393000													12	49					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37371248	37371248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37371248C>T	ENST00000333461.5	-	6	1097	c.728G>A	c.(727-729)gGg>gAg	p.G243E		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	243					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCTGCCTTCCCCATCCTCGGT	0.627000													42	381					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53728233	53728233	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:53728233G>A	ENST00000306052.6	-	11	1760	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	LRP8_ENST00000371454.2_Silent_p.F553F|LRP8_ENST00000465675.1_Silent_p.F106F|LRP8_ENST00000347547.2_Silent_p.F383F|LRP8_ENST00000354412.3_Silent_p.F424F	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	553					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACCAATACATGAACCTAAAAG	0.488000													42	316					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32613921	32613921	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:32613921G>A	ENST00000338921.4	+	10	1345	c.827_splice	c.e10-1	p.K276_splice	NRG1_ENST00000287842.3_Splice_Site_p.K265_splice|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000523079.1_Splice_Site_p.K265_splice|NRG1_ENST00000519301.1_Splice_Site_p.K218_splice|NRG1_ENST00000539990.1_Splice_Site_p.K111_splice|NRG1_ENST00000287840.5_Splice_Site_p.K268_splice|NRG1_ENST00000405005.2_Splice_Site_p.K268_splice|NRG1_ENST00000356819.4_Splice_Site_p.K273_splice|NRG1_ENST00000287845.5_Splice_Site_p.K239_splice|NRG1_ENST00000521670.1_Splice_Site_p.K268_splice			Q02297	NRG1_HUMAN	neuregulin 1	268					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTATGTCCAGGAAACAGCGGA	0.418000													8	66					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128487751	128487751	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128487751G>A	ENST00000325888.8	+	25	4550	c.4288_splice	c.e25-1	p.G1430_splice	FLNC_ENST00000346177.6_Splice_Site_p.G1430_splice	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1430					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTCCTCACAGGGAGCCCGTTC	0.647000													8	132					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47147570	47147570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:47147570G>A	ENST00000409792.3	-	6	4798	c.4756C>T	c.(4756-4758)Cat>Tat	p.H1586Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1586	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTCTTTATGATCGAGTACC	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								10	61					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581976	118581976	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:118581976C>T	ENST00000336338.5	-	23	3323	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1086						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATCCCCTTTCTCTTCCTTTT	0.373000													5	30					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117056931	117056931	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:117056931G>A	ENST00000324225.4	+	9	1485	c.954G>A	c.(952-954)gaG>gaA	p.E318E	SIDT2_ENST00000431081.2_Silent_p.E318E	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	318						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTGCTGGGAGAACTGGAGGT	0.572000													8	72					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978819	41978819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:41978819G>A	ENST00000372584.1	-	7	7087	c.6073C>T	c.(6073-6075)Cct>Tct	p.P2025S	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P2025S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P2025S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P2025S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2025					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACCCACAAGGGAGAGCGCCC	0.647000													8	72					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640463	3640463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3640463G>A	ENST00000294008.3	-	12	3816	c.3176C>T	c.(3175-3177)cCc>cTc	p.P1059L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1059	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACGGGACCGGGGTGTTGACAG	0.642000								Direct reversal of damage					6	153					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136289454	136289454	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:136289454C>T	ENST00000371929.3	+	3	630	c.186C>T	c.(184-186)tcC>tcT	p.S62S	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.S62S|ADAMTS13_ENST00000356589.2_Silent_p.S62S|ADAMTS13_ENST00000371916.1_Silent_p.S62S|ADAMTS13_ENST00000371911.3_Silent_p.S62S	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	62					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCCTCCTTCCCCTGGCTTCc	0.652000													30	116					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264346	25264346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:25264346G>A	ENST00000328086.7	-	3	1402	c.599C>T	c.(598-600)cCc>cTc	p.P200L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	200					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGGAACCCAGGGAGAAGGCCG	0.438000													12	146					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114383675	114383675	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:114383675G>A	ENST00000545145.2	-	13	1662	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	RBM19_ENST00000261741.5_Silent_p.I528I|RBM19_ENST00000392561.3_Silent_p.I528I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	528					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACTTCTGTGCGATGGCATCGG	0.552000													4	50					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1250227	1250227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1250227C>T	ENST00000540437.1	-	9	1152	c.697G>A	c.(697-699)Gag>Aag	p.E233K	CPSF3L_ENST00000545578.1_Missense_Mutation_p.E198K|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E205K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E129K|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E227K|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.E126K	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	227						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCCACGGTCTCGTGGACTTTC	0.642000													22	78					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108139934	108139934	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108139934C>T	ENST00000273353.3	-	29	3946		c.e29+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTTACTTACCACTCTCACT	0.468000													9	122					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94617	94617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:94617G>A	ENST00000309812.4	-	3	277	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TUBB8_ENST00000447903.2_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.P36S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	72					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGAGTCCATGGTGCCCGGCTC	0.697000													11	100					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257848	57257848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:57257848G>A	ENST00000343433.6	-	2	718	c.638C>T	c.(637-639)cCc>cTc	p.P213L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	213										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TACAAAAGAGGGATCTTCAGA	0.502000													6	63					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89992930	89992930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:89992930C>T	ENST00000405460.2	+	34	8218	c.8122C>T	c.(8122-8124)Cag>Tag	p.Q2708*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2708					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)		TGTTAGCTTTCAGACAGCTTC	0.393000													4	110					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370866	126370866	+	Missense_Mutation	SNP	C	C	T	rs139451014		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126370866C>T	ENST00000394329.3	+	9	8708	c.8695C>T	c.(8695-8697)Cct>Tct	p.P2899S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1197S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2899	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P2899S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAACAGATCCTGATGAGGG	0.363000													7	99					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152426609	152426609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152426609C>T	ENST00000397345.3	-	109	17618	c.17416G>A	c.(17416-17418)Gaa>Aaa	p.E5806K	NEB_ENST00000604864.1_Missense_Mutation_p.E5806K|NEB_ENST00000172853.10_Missense_Mutation_p.E4105K|NEB_ENST00000427231.2_Missense_Mutation_p.E5806K|NEB_ENST00000603639.1_Missense_Mutation_p.E5806K|NEB_ENST00000409198.1_Missense_Mutation_p.E4105K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5825					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGCAGTTCGTAGGCCTTC	0.512000													3	13					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138587	205138587	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:205138587A>G	ENST00000367162.3	-	3	1058	c.1028T>C	c.(1027-1029)tTg>tCg	p.L343S	DSTYK_ENST00000367160.4_Missense_Mutation_p.L343S|DSTYK_ENST00000367161.3_Missense_Mutation_p.L343S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	343						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AAATGTGCTCAAGTGTCTCAG	0.527000													6	92					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640706	60640706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60640706C>T	ENST00000278853.5	+	7	1184	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	395	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCACCCCCATCGCCTGCTCCT	0.602000													21	240					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306984	61306984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61306984C>T	ENST00000341074.5	-	6	611	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.G166R	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCAATAGTCCCATCAGGAAAT	0.348000													5	50					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022859	64022859	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:64022859T>G	ENST00000371088.4	+	10	1535	c.1289T>G	c.(1288-1290)tTt>tGt	p.F430C	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	430	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GAATATAATTTTTTTGAATTG	0.294000													3	29					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790365	248790365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248790365C>T	ENST00000330803.2	-	1	126	c.65G>A	c.(64-66)gGg>gAg	p.G22E		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			AAATACAATCCCGGCAGCCTC	0.537000													4	79					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190148	209190148	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:209190148C>T	ENST00000264380.4	+	20	2771	c.2613C>T	c.(2611-2613)tcC>tcT	p.S871S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	871					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGAAATATCCTTTCTCATGG	0.438000													5	56					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040497	88040497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:88040497C>T	ENST00000319595.4	+	1	652	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	200					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GATTTTGATCCTTTACTACAA	0.408000													9	64					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320978	46320978	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:46320978T>A	ENST00000465950.1	-	1	2770	c.1561A>T	c.(1561-1563)Aag>Tag	p.K521*	SCAF11_ENST00000549162.1_Nonsense_Mutation_p.K644*|SCAF11_ENST00000419565.2_Nonsense_Mutation_p.K836*|SCAF11_ENST00000369367.3_Nonsense_Mutation_p.K836*			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	836					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GACTCATTCTTAGGAGATGGT	0.478000													8	90					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679189	100679189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100679189C>T	ENST00000306151.4	+	3	4556	c.4492C>T	c.(4492-4494)Cct>Tct	p.P1498S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1498	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)					ATCTCCTACACCTGCTGAAGG	0.493000													15	336					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945546	16945546	+	RNA	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16945546C>A	ENST00000412962.1	-	0	1973																											GTGCCGTGTACCCATCAACTT	0.632000													16	581					1.99824e-07	2.01797e-07	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354264	45354264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:45354264G>A	ENST00000359271.2	+	2	839	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	197						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AACACACAAGGACCTCATCCC	0.617000													12	89					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776035	120776035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:120776035G>A	ENST00000527524.2	+	13	1596	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E437K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	437					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAACCACCAGGAGATGGAAGG	0.542000													17	302					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521892	131521892	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131521892C>T	ENST00000423981.1	+	2	2357	c.2247C>T	c.(2245-2247)gtC>gtT	p.V749V	AMER3_ENST00000321420.4_Silent_p.V749V	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																		GAGATCGTGTCCAGGACCTGA	0.637000													3	57					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330955	21330955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21330955C>T	ENST00000313654.9	+	5	999	c.758C>T	c.(757-759)aCc>aTc	p.T253I	LAMA3_ENST00000399516.3_Missense_Mutation_p.T253I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	253	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGAGTTTACCAAGGCAACA	0.478000													10	102					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141458692	141458692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:141458692G>A	ENST00000323570.3	+	5	528	c.396G>A	c.(394-396)atG>atA	p.M132I		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	132	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					AGCTACTCATGAAGGTAAATT	0.363000													5	64					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644132	117644132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117644132C>T	ENST00000369466.3	+	23	3519	c.3475C>T	c.(3475-3477)Ctt>Ttt	p.L1159F	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1159					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTCAGAGTCCTTTTTGGCAT	0.443000													14	230					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533824	55533824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55533824G>A	ENST00000220676.1	+	2	446	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	100	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCTGGAGGACGGCGAGTC	0.652000													10	133					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267131	43267131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43267131G>A	ENST00000372585.5	+	3	498	c.403G>A	c.(403-405)Gat>Aat	p.D135N	SLC22A7_ENST00000372589.3_Missense_Mutation_p.D133N|SLC22A7_ENST00000372574.3_Missense_Mutation_p.D133N|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	135						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)			CTTGCAGTGGGATCTGGTGTG	0.587000													3	63					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089818	31089818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:31089818C>T	ENST00000359202.3	-	1	352	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	85	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TTCCTGATATCGTGAAGGCAG	0.597000													11	55					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815748	12815748	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12815748G>A	ENST00000288048.5	+	2	426	c.210G>A	c.(208-210)ggG>ggA	p.G70G	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTATGGGAAGAGGAAAG	0.522000													6	35					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083065	17083065	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:17083065T>C	ENST00000377833.4	-	27	4049	c.3984A>G	c.(3982-3984)gaA>gaG	p.E1328E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1328	CUB 8.				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)	TTATGTGATGTTCCAAGTCAA	0.388000													9	148					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069785	4069785	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4069785C>T	ENST00000274673.3	-	7	1075	c.672G>A	c.(670-672)ctG>ctA	p.L224L	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	224																	GCTTCAAGTTCAGGTCCACCT	0.368000													7	124					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905201	153905201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:153905201G>A	ENST00000361217.4	-	23	4094	c.3676C>T	c.(3676-3678)Cct>Tct	p.P1226S	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1226								p.P1114S(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACCACCAGGGACAGGAGCA	0.622000													8	71					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620706	26620706	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26620706G>A	ENST00000374222.1	-	9	1013	c.549C>T	c.(547-549)ttC>ttT	p.F183F	UBXN11_ENST00000357089.4_Silent_p.F150F|UBXN11_ENST00000436301.2_Silent_p.F108F|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374221.3_Silent_p.F183F|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000535108.1_Silent_p.F25F|UBXN11_ENST00000374217.2_Silent_p.F150F			Q5T124	UBX11_HUMAN	UBX domain protein 11	183						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGGCTTCCAGAACTTCTTGG	0.587000													13	157					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059717	103059717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103059717C>T	ENST00000264260.2	+	8	1443	c.854C>T	c.(853-855)cCt>cTt	p.P285L	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P143L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	285	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTCTTTAACCCTGTCATAAAA	0.418000													3	55					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142509896	142509896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142509896G>A	ENST00000273482.6	+	7	1622	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	TRPC1_ENST00000476941.1_Missense_Mutation_p.E445K	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	445					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACTCTGGTATGAAGGGTTGGA	0.328000													4	31					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815879	46815879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46815879G>A	ENST00000339613.2	+	8	1081	c.826G>A	c.(826-828)Gag>Aag	p.E276K	HIF3A_ENST00000244303.6_Missense_Mutation_p.E263K|HIF3A_ENST00000300862.3_Missense_Mutation_p.E330K|HIF3A_ENST00000377670.4_Missense_Mutation_p.E332K|HIF3A_ENST00000600383.1_Missense_Mutation_p.E263K|HIF3A_ENST00000420102.2_Missense_Mutation_p.E281K|HIF3A_ENST00000472815.1_Missense_Mutation_p.E263K			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	332	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCCAGTCGGAGAGTATCGT	0.607000													9	128					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18870933	18870933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18870933C>T	ENST00000338797.6	+	9	854	c.829C>T	c.(829-831)Ccg>Tcg	p.P277S	CRTC1_ENST00000601916.1_Missense_Mutation_p.P186S|CRTC1_ENST00000594658.1_Missense_Mutation_p.P220S|CRTC1_ENST00000321949.8_Missense_Mutation_p.P261S	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	261					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCCCGACCCCGCTGGACCC	0.692000													10	79					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8416954	8416954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:8416954C>T	ENST00000360416.3	-	23	2785	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	MYH10_ENST00000396239.1_Missense_Mutation_p.E873K|MYH10_ENST00000379980.4_Missense_Mutation_p.E868K|MYH10_ENST00000269243.4_Missense_Mutation_p.E852K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	852					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGAAGTTCTTCCTCCTGGCGA	0.463000													17	182					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730652	92730652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92730652C>T	ENST00000379958.2	-	3	5028	c.4759G>A	c.(4759-4761)Gaa>Aaa	p.E1587K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1587						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)			TAAACAATTTCAATGTCATAA	0.393000													15	127					0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55895620	55895620	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:55895620G>A	ENST00000247219.5	-	5	931	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	287					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TAAAATCGAGGAATCTGGCAG	0.463000													5	127					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55260515	55260515	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:55260515G>A	ENST00000275493.2	+	22	2859	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	EGFR_ENST00000455089.1_Silent_p.Q849Q|EGFR_ENST00000454757.2_Silent_p.Q841Q|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	894	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATACCCACCAGAGTGATGTCT	0.413000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	114					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906683	13906683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:13906683C>T	ENST00000279593.3	-	3	787	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	193					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCCACAAAGCTATTCTCAAT	0.473000													5	71					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25443048	25443048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:25443048C>T	ENST00000278886.6	-	20	3626	c.3553G>A	c.(3553-3555)Gag>Aag	p.E1185K	NINL_ENST00000422516.1_Missense_Mutation_p.E836K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1185					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCACCTCCTCCAGGCTCTGT	0.607000													9	75					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124748074	124748074	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124748074T>C	ENST00000262219.6	-	2	126	c.59A>G	c.(58-60)aAa>aGa	p.K20R	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGTCCCCTTTAGGCAACTG	0.522000													8	70					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33768802	33768802	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:33768802T>C	ENST00000530401.1	-	10	1118	c.1098A>G	c.(1096-1098)acA>acG	p.T366T	FBXO3_ENST00000265651.3_Silent_p.T371T|FBXO3_ENST00000531080.1_Silent_p.T58T|FBXO3_ENST00000448981.2_Silent_p.T371T|FBXO3_ENST00000534136.1_Silent_p.T371T|FBXO3_ENST00000532057.1_Silent_p.T58T|FBXO3_ENST00000526785.1_Silent_p.T258T			Q9UK99	FBX3_HUMAN	F-box protein 3	371	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATCCTGATGTTGTAGAGAATG	0.378000													3	73					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914588	54914588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54914588G>A	ENST00000545554.1	+	30	6170	c.6170G>A	c.(6169-6171)gGa>gAa	p.G2057E	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.G2057E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2055E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2057	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCACCCCAGGAACGGGAGAT	0.443000													5	65					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915276	48915276	+	Nonsense_Mutation	SNP	G	G	A	rs121912524		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:48915276G>A	ENST00000294954.7	-	11	1681	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.R527*|LHCGR_ENST00000401907.1_Missense_Mutation_p.S317L|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.R492*|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R554*(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTGGGTTTCGAACTGCAAAA	0.368000													5	73					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34010029	34010029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34010029C>T	ENST00000297161.2	+	6	865	c.491C>T	c.(490-492)cCa>cTa	p.P164L	BMPER_ENST00000426693.1_Missense_Mutation_p.P164L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	164	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCCACATGTCCAGGTAACGTT	0.488000													7	83					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128031	56128031	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56128031G>A	ENST00000303039.3	+	1	341	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AACTGGGAGGGTTCTTGTTCT	0.423000													8	65					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95500733	95500733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:95500733C>T	ENST00000343958.4	-	13	3637	c.3414G>A	c.(3412-3414)atG>atA	p.M1138I	FGD6_ENST00000549499.1_Missense_Mutation_p.M1138I|FGD6_ENST00000546711.1_Missense_Mutation_p.M1138I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1138	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACACACCTTCATTCCAGCCA	0.408000													21	187					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527316	109527316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:109527316G>A	ENST00000409271.1	-	8	1185	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	EDAR_ENST00000376651.1_Missense_Mutation_p.L248F|EDAR_ENST00000258443.2_Intron			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCTGGGGAGAGAGGAGGGAGT	0.672000													7	51					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21805172	21805172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:21805172G>A	ENST00000449193.2	-	4	3832	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P448L	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		AGATGCTTTGGGGGCCCAGCT	0.562000													3	60					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553802	140553802	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140553802G>A	ENST00000231137.3	+	1	1560	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTCCGTGAGAACAACAGCC	0.612000													12	245					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170834	77170834	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:77170834T>G	ENST00000253506.5	+	2	928	c.559T>G	c.(559-561)Tcc>Gcc	p.S187A	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S187A|NFATC1_ENST00000329101.4_Missense_Mutation_p.S174A|NFATC1_ENST00000318065.5_Missense_Mutation_p.S174A|NFATC1_ENST00000591814.1_Missense_Mutation_p.S187A|NFATC1_ENST00000586434.1_Missense_Mutation_p.S174A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.S174A|NFATC1_ENST00000542384.1_Missense_Mutation_p.S187A|NFATC1_ENST00000427363.2_Missense_Mutation_p.S187A	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	187	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCAGAGGCCTCCTCCTACGA	0.677000													13	143					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4839027	4839027	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4839027G>A	ENST00000399583.3	-	15	3397	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	RADIL_ENST00000538469.1_Silent_p.F830F|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1070					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGCGTGCGGAAATGGATCT	0.632000													15	103					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101449280	101449280	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101449280C>T	ENST00000554693.2	+	0	717				SNORD114-22_ENST00000365423.1_RNA																							ATGATGACTACCGGTGGCGTA	0.368000													11	111					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054017	52054017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:52054017C>T	ENST00000340057.1	+	3	440	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	132					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGCCCCAACTCCTTCCGGCTG	0.597000													8	54					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6961660	6961660	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:6961660C>T	ENST00000389658.3	-	53	7644	c.7551G>A	c.(7549-7551)acG>acA	p.T2517T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2517	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTGCTGTTCGTGGTGGCAA	0.562000													6	42					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891546	6891546	+	Silent	SNP	C	C	T	rs144699545		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6891546C>T	ENST00000307322.4	+	1	623	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTACGCCATCGTCGGAACCA	0.517000													12	126					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756350	10756350	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10756350C>T	ENST00000416569.2	-	3	1064	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	XKR6_ENST00000304437.2_Silent_p.R67R	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	346						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTTGTCGTCCCTGGAGTCCC	0.557000													8	120					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025282	5025282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:5025282C>T	ENST00000256495.3	+	5	1747	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	382						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCAGAGACTCCCTTCTCCCTT	0.547000													13	160					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31283422	31283422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:31283422G>A	ENST00000332585.6	+	4	1221	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	OSBP2_ENST00000382310.3_Missense_Mutation_p.D373N|OSBP2_ENST00000403222.3_Missense_Mutation_p.D208N|OSBP2_ENST00000407373.1_Missense_Mutation_p.D200N|OSBP2_ENST00000401475.1_Missense_Mutation_p.D7N|OSBP2_ENST00000446658.2_Missense_Mutation_p.D373N|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000437268.2_Missense_Mutation_p.D115N	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	373					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGCCTGCAGGGACTTCTTGGA	0.582000													15	148					0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80213452	80213452	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:80213452C>T	ENST00000314028.6	-	3	538	c.187_splice	c.e3-1	p.V63_splice	CSNK1D_ENST00000392334.2_Splice_Site_p.V63_splice|CSNK1D_ENST00000398519.5_Splice_Site_p.V63_splice	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	63	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TGGGGATGCCCACTAGGCAAG	0.572000													17	229					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900182	202900182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:202900182C>T	ENST00000286201.1	+	1	873	c.812C>T	c.(811-813)aCc>aTc	p.T271I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	271					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGCTCTTTACCGTTCTCACC	0.637000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	282					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799051	25799051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:25799051G>A	ENST00000244527.4	-	12	1481	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.Q402*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.Q402*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.Q456*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	456					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCAGTCCTGAATTTCTGCT	0.428000													5	89					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749584	51749584	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51749584A>G	ENST00000395052.3	+	4	2029	c.1795A>G	c.(1795-1797)Aag>Gag	p.K599E	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	599					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACCAGTGGTCAAGGCCTCAGG	0.602000													14	131					0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72083432	72083432	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72083432C>T	ENST00000266673.5	+	2	786	c.192C>T	c.(190-192)atC>atT	p.I64I	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Silent_p.I64I	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	64						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGTTCTGATCGTCTCTAATG	0.383000													11	146					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670982	186670982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186670982G>A	ENST00000343098.5	+	17	17216	c.17216G>A	c.(17215-17217)cGa>cAa	p.R5739Q	FSIP2_ENST00000424728.1_Missense_Mutation_p.R5650Q	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAAGAATTCGAACATCAAGC	0.378000													3	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114327001	114327001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:114327001C>T	ENST00000297405.5	-	2	444	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G27E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G67E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G67E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	67	CUB 1.					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						TTTTAAAGTTCCACCACATGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	114					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419547	80419547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:80419547C>T	ENST00000265080.4	+	16	2624	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	853					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTGCAGATCCCCCTCAACTCC	0.527000													4	65					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31351016	31351016	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:31351016C>T	ENST00000225823.2	-	6	2084	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	ASIC2_ENST00000359872.6_Silent_p.K353K|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	353					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AATTGCTGTCCTTTTCCGCCA	0.542000													12	181					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117638418	117638418	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117638418T>C	ENST00000368508.3	-	38	6221	c.6023A>G	c.(6022-6024)aAc>aGc	p.N2008S	ROS1_ENST00000368507.3_Missense_Mutation_p.N2002S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2008	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAGAATGTTGGGATGATT	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								6	102					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108226151	108226151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:108226151C>T	ENST00000370056.4	-	19	2010	c.1736G>A	c.(1735-1737)cGg>cAg	p.R579Q	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.R514Q|VAV3_ENST00000544443.1_Intron|VAV3_ENST00000527011.1_Missense_Mutation_p.R579Q|VAV3_ENST00000415432.2_Missense_Mutation_p.R19Q	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	579					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)		TCCATTGGTCCGTTTCTGTGC	0.363000													8	75					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773726	35773726	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:35773726C>T	ENST00000360215.1	+	1	656	c.279C>T	c.(277-279)gcC>gcT	p.A93A	LHFPL5_ENST00000373853.1_Silent_p.A93A	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	93						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CCTCTAGAGCCTTCAAGACTG	0.552000													19	229					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127823693	127823693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127823693G>A	ENST00000464873.1	-	4	1006	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	RUVBL1_ENST00000322623.5_Missense_Mutation_p.P146S|RUVBL1_ENST00000417360.1_Missense_Mutation_p.P146S			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	146					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CCTCCCATGGGATTCTCTGTC	0.478000													14	110					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526117	68526117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68526117G>A	ENST00000433211.1	-	9	1360	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.L396F|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	396					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAACCAAAAGAGGGACTGTC	0.403000													4	56					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209481	209481	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:209481T>A	ENST00000526104.1	+	3	1551	c.207T>A	c.(205-207)agT>agA	p.S69R	RIC8A_ENST00000527696.1_Missense_Mutation_p.S63R|RIC8A_ENST00000325207.5_Missense_Mutation_p.S69R			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	69						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCTGCAGAGTGTCCGAATCC	0.642000													10	154					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562191	142562191	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142562191G>A	ENST00000392957.2	+	7	1420	c.633G>A	c.(631-633)gtG>gtA	p.V211V	EPHB6_ENST00000442129.1_Silent_p.V211V|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	211						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTTCTACGTGGCCTTCCAGG	0.652000													24	216					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746658	77746658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:77746658C>T	ENST00000409088.3	-	3	751	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	LRRTM4_ENST00000409911.1_Missense_Mutation_p.E114K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E113K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E113K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E114K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	113						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)		AGAATTAATTCTTTCAGTCTA	0.393000													6	25					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123354	103123354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:103123354C>T	ENST00000428762.1	-	63	10405	c.10246G>A	c.(10246-10248)Gat>Aat	p.D3416N	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.D3416N|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.D3416N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3416					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCCATTGATCATGACCTGTT	0.473000													13	113					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1721867	1721867	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1721867G>A	ENST00000378609.4	-	9	997	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	222					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTGGCCAGTGAAGGTCTGCC	0.557000													10	111					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128261059	128261059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:128261059G>A	ENST00000295321.4	-	4	1572	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S445F	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	438	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCACTGTCAGATGCTATGGT	0.433000													10	97					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3137042	3137042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:3137042G>A	ENST00000446632.2	-	8	1370	c.796C>T	c.(796-798)Cca>Tca	p.P266S	IL5RA_ENST00000438560.1_Missense_Mutation_p.P266S|IL5RA_ENST00000430514.2_Missense_Mutation_p.P266S|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000311981.8_Missense_Mutation_p.P266S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P266S|IL5RA_ENST00000456302.1_Missense_Mutation_p.P266S|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.P266S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	266					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAATGGATTGGAAAAGCAGAC	0.353000													3	45					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815553	56815553	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:56815553A>G	ENST00000229201.4	-	22	2834	c.2680T>C	c.(2680-2682)Ttg>Ctg	p.L894L	TIMELESS_ENST00000554616.1_Silent_p.L392L|TIMELESS_ENST00000553532.1_Silent_p.L895L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	895					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCAGCTCCAACTCCTGATCC	0.507000													14	155					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650684	232650684	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:232650684G>A	ENST00000366630.1	-	2	760	c.402C>T	c.(400-402)ttC>ttT	p.F134F	SIPA1L2_ENST00000262861.4_Silent_p.F134F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	134					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCCTCCACGAAGTCCAGAT	0.502000													7	138					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305151	121305151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121305151C>T	ENST00000334384.3	+	4	662	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	218						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GGCCTCGGTTCCTGCTTTGTA	0.453000													12	99					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516442	140516442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140516442G>A	ENST00000231134.5	+	1	1643	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		476	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.637000													22	264					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61424021	61424021	+	Missense_Mutation	SNP	C	C	T	rs145829924		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61424021C>T	ENST00000395348.3	-	4	1036	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SLC16A9_ENST00000395347.1_Missense_Mutation_p.D134N	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	134					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCTCGGCGATCGTCAAAATAC	0.393000													4	65					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52785427	52785427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52785427C>T	ENST00000439461.1	+	2	125	c.82C>T	c.(82-84)Cct>Tct	p.P28S	ZNF766_ENST00000599581.1_Missense_Mutation_p.P28S|ZNF766_ENST00000359102.4_Missense_Mutation_p.P43S|ZNF766_ENST00000600821.1_Missense_Mutation_p.P23S|ZNF766_ENST00000593612.1_Missense_Mutation_p.P43S	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATGCCTGGACCCTGTGCAGAA	0.493000													14	256					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043129	46043129	+	Missense_Mutation	SNP	C	C	T	rs75184362		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:46043129C>T	ENST00000295452.4	-	9	1441	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	425					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCTCCAAGATCCTGTTCTGCA	0.408000													7	56					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807172	143807172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143807172C>T	ENST00000408979.2	+	1	566	c.497C>T	c.(496-498)cCc>cTc	p.P166L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTAAGGTTGCCCTTCTGTGGG	0.522000													8	77					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349133	150349133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150349133G>A	ENST00000218316.3	+	2	1147	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	360	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTGGAGGAAACCCCGAT	0.632000													20	111					0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333576	44333576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44333576C>T	ENST00000335769.2	-	1	82	c.55G>A	c.(55-57)Gat>Aat	p.D19N	WFDC10B_ENST00000330523.5_5'UTR|WFDC13_ENST00000305479.2_Intron	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TAACCAAAATCCCAAAGCAAA	0.507000													24	255					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123699272	123699272	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:123699272C>T	ENST00000479867.1	-	2	305	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ROPN1_ENST00000405845.3_Silent_p.K19K|ROPN1_ENST00000495093.1_Silent_p.K19K|ROPN1_ENST00000484329.1_Silent_p.K19K|ROPN1_ENST00000459660.1_Silent_p.K19K|ROPN1_ENST00000184183.4_Silent_p.K19K			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	19	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TGGCAAACTCCTTCAGCATCT	0.552000													19	118					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211542647	211542647	+	Missense_Mutation	SNP	C	C	T	rs138125466		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211542647C>T	ENST00000233072.5	+	38	4637	c.4441C>T	c.(4441-4443)Cgc>Tgc	p.R1481C	CPS1_ENST00000430249.2_Missense_Mutation_p.R1487C|CPS1_ENST00000451903.2_Missense_Mutation_p.R1030C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1481					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)		GCAGAAATCTCGCAAGGTGGA	0.423000													12	256					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898331	36898331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36898331G>A	ENST00000429976.2	-	12	2997	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V	TRANK1_ENST00000301807.6_Missense_Mutation_p.A367V|TRANK1_ENST00000428977.2_Missense_Mutation_p.A367V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	917					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGTTGTAGGCATTGCAGAT	0.478000													6	41					0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10426588	10426588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10426588C>T	ENST00000541276.1	-	1	97	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	FDX1L_ENST00000393708.3_Missense_Mutation_p.G29S|CTD-2369P2.12_ENST00000586529.1_Intron|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.G29S|FDX1L_ENST00000494368.1_Intron			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	29					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CCGGAAGTGCCCCCAGGTCTG	0.672000													3	43					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113909298	113909298	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:113909298C>T	ENST00000451881.1	+	18	1839	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S	CUL4A_ENST00000326335.4_Silent_p.S530S|CUL4A_ENST00000375441.3_Silent_p.S530S|CUL4A_ENST00000375440.4_Silent_p.S630S	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	630					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGCTGCAGTCCCTGGCCTGTG	0.458000													3	36					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215972435	215972435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:215972435G>A	ENST00000366943.2	-	50	10158	c.9772C>T	c.(9772-9774)Cgg>Tgg	p.R3258W	USH2A_ENST00000307340.3_Missense_Mutation_p.R3258W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3258					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAACCCGATTGTGCTGT	0.423000										HNSCC(13;0.011)			3	18					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686412	3686412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3686412C>T	ENST00000344754.4	-	3	684	c.685G>A	c.(685-687)Gag>Aag	p.E229K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E229K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	229	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGTGAATCTCGCTCTGAGCC	0.622000													17	108					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410164	159410164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:159410164G>A	ENST00000423932.3	+	1	653	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	206					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CACTGTCAATGAAATCCTGAC	0.438000													21	140					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72921268	72921268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:72921268C>T	ENST00000553530.1	+	4	424	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	RGS6_ENST00000407322.4_Missense_Mutation_p.L73F|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000402788.2_Missense_Mutation_p.L73F|RGS6_ENST00000406236.4_Missense_Mutation_p.L73F|RGS6_ENST00000556437.1_Missense_Mutation_p.L73F|RGS6_ENST00000404301.2_Missense_Mutation_p.L73F|RGS6_ENST00000553525.1_Missense_Mutation_p.L73F|RGS6_ENST00000434263.2_Missense_Mutation_p.L4F|RGS6_ENST00000555571.1_Missense_Mutation_p.L73F|RGS6_ENST00000343854.6_Missense_Mutation_p.L73F|RGS6_ENST00000355512.6_Missense_Mutation_p.L73F	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	73	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TATGAAGAACCTTTCCATTGA	0.463000													16	141					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798961	5798961	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5798961A>G	ENST00000317093.2	-	1	936	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTACTCCATAAACAATAGGG	0.423000													4	42					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38027303	38027303	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:38027303G>A	ENST00000296218.7	+	4	619	c.609G>A	c.(607-609)caG>caA	p.Q203Q	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Silent_p.Q55Q	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	181					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCACTGCAGGCTGAGCAGG	0.577000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	62					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37842191	37842191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37842191G>A	ENST00000300658.4	-	2	355	c.263C>T	c.(262-264)cCt>cTt	p.P88L	PGAP3_ENST00000579146.1_Missense_Mutation_p.P88L|PGAP3_ENST00000378011.4_Missense_Mutation_p.P88L|PGAP3_ENST00000429199.2_Missense_Mutation_p.P88L	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	88					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGGAACTGAGGCACTTTGTG	0.532000													7	98					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761094	241761094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:241761094G>A	ENST00000366554.2	-	3	1005	c.899C>T	c.(898-900)tCg>tTg	p.S300L	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.S221L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	300					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACAGTGTTCGATTTAGCAAA	0.393000													7	74					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39672454	39672454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39672454C>T	ENST00000254043.3	-	4	4387	c.802G>A	c.(802-804)Ggt>Agt	p.G268S	KRT15_ENST00000393974.3_Missense_Mutation_p.G103S|KRT15_ENST00000393976.2_Missense_Mutation_p.G268S|KRT15_ENST00000393981.3_Missense_Mutation_p.G103S	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	268	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGTCCACACCCGGTGCTGCG	0.622000													40	502					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476578	42476578	+	Missense_Mutation	SNP	G	G	A	rs142791383		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42476578G>A	ENST00000434000.1	-	9	2915	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F	GPATCH8_ENST00000591680.1_Missense_Mutation_p.S956F			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	956	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCGGCCCCGGGATCTTGAGCG	0.567000													11	95					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991320	47991320	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:47991320C>T	ENST00000371741.4	-	2	943	c.777G>A	c.(775-777)aaG>aaA	p.K259K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	259					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)			TGAGTGGGCCCTTGAAGAACT	0.542000													6	77					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165697	53165697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53165697C>T	ENST00000332411.2	-	6	1274	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	407	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCTGGATCATCCTGTTGA	0.557000													10	158					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017296	109017296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:109017296G>A	ENST00000388962.3	-	3	917	c.758C>T	c.(757-759)tCc>tTc	p.S253F	SELPLG_ENST00000228463.6_Missense_Mutation_p.S279F|SELPLG_ENST00000550948.1_Missense_Mutation_p.S263F	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	263	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGGTTCTGTGGACAGGGCCTC	0.572000													6	78					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389765	150389765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150389765G>A	ENST00000223293.5	+	3	485	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	131						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)		GAGGGTGAAGGAGATCTTTGG	0.552000													4	69					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73198740	73198740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:73198740C>T	ENST00000272433.2	-	11	830	c.700G>A	c.(700-702)Gat>Aat	p.D234N	SFXN5_ENST00000410065.1_Intron|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	234					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AGGTTGCCATCGCTGTCCAGG	0.617000													8	77					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72745747	72745747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:72745747C>T	ENST00000252037.4	+	5	625	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	FKBP6_ENST00000413573.2_Missense_Mutation_p.R156C|FKBP6_ENST00000431982.2_Missense_Mutation_p.R181C	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	186					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R186C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGCCAGAATCGTTTCTATGA	0.423000													12	96					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006260	74006260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74006260G>A	ENST00000301607.3	-	22	3279	c.3026C>T	c.(3025-3027)aCc>aTc	p.T1009I	EVPL_ENST00000586740.1_Missense_Mutation_p.T1031I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1009	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCTGCATGGTCTTCCTCTT	0.657000													10	88					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45195025	45195025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:45195025G>A	ENST00000279027.4	-	11	1355	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	SLC13A3_ENST00000435032.1_Missense_Mutation_p.S31L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S396L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.S399L|SLC13A3_ENST00000396360.1_Missense_Mutation_p.S364L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.S399L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.S364L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	446						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.S446L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGACAGCCCCGATTCCTGCGG	0.597000													13	140					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47640420	47640420	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:47640420T>C	ENST00000302503.3	-	13	1034	c.877A>G	c.(877-879)Aag>Gag	p.K293E	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.K145E	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	293					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CAATAAGTCTTCCCAAAGGGG	0.403000													14	151					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175803	143175803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143175803C>T	ENST00000408916.1	+	1	838	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	280					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATCTGTCCATCCCTTCATCCT	0.498000													5	54					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372919	24372919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24372919G>A	ENST00000005284.3	+	4	1885	c.683G>A	c.(682-684)aGg>aAg	p.R228K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	228					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCACCCTACAGGTATCGATTC	0.542000													4	51					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872707	54872707	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54872707C>T	ENST00000391743.3	-	2	406	c.126G>A	c.(124-126)ctG>ctA	p.L42L	LAIR1_ENST00000434277.2_Silent_p.L59L|LAIR1_ENST00000391742.2_Silent_p.L60L|LAIR1_ENST00000313038.6_Silent_p.L53L|LAIR1_ENST00000348231.4_Silent_p.L60L|LAIR1_ENST00000474878.1_Silent_p.L59L|LAIR1_ENST00000463489.1_5'UTR			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	60	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTCCCTCTCCAGGCGGAATG	0.557000													31	181					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142031486	142031486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142031486G>A	ENST00000264951.4	-	41	4889	c.4772C>T	c.(4771-4773)gCt>gTt	p.A1591V	XRN1_ENST00000392981.2_Missense_Mutation_p.A1579V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1591					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TATTCCCCCAGCCATGGGCAT	0.433000													7	60					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99022469	99022469	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99022469G>A	ENST00000292478.4	-	6	1936	c.1686C>T	c.(1684-1686)gcC>gcT	p.A562A	PTCD1_ENST00000555673.1_Silent_p.A611A|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A611A	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACCCGATGGCCAGGTTGC	0.627000													12	77					0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169727952	169727952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169727952C>T	ENST00000282074.2	-	7	805	c.664G>A	c.(664-666)Gtt>Att	p.V222I		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	222	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAATTATAAACCGTGGCAGTA	0.303000													11	72					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753164	42753164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:42753164G>A	ENST00000222329.4	-	4	1257	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.S292F	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	367	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGAAGAAGAGGATGACGAGGC	0.687000													15	89					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124113183	124113183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124113183C>T	ENST00000287380.1	+	7	1058	c.968C>T	c.(967-969)tCt>tTt	p.S323F	TBC1D31_ENST00000378080.2_Missense_Mutation_p.S218F|TBC1D31_ENST00000327098.5_Missense_Mutation_p.S323F|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S323F|TBC1D31_ENST00000521676.1_Missense_Mutation_p.S218F|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S218F	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TACATTGCATCTATTATGGAA	0.343000													3	53					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710875	117710875	+	Missense_Mutation	SNP	C	C	T	rs140178288	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117710875C>T	ENST00000368508.3	-	12	1595	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	ROS1_ENST00000368507.3_Missense_Mutation_p.R475Q|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	466					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAAATGATTCGCTTGGCTTG	0.493000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								3	35					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16725316	16725316	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16725316C>T	ENST00000335496.1	-	13	1836	c.1352_splice	c.e13-1	p.E452_splice	SPATA21_ENST00000466212.1_Intron|SPATA21_ENST00000540400.1_Splice_Site_p.E429_splice	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	452							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GAGTTGTGTTCCCTGGGGAGA	0.577000													12	116					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530860	155530860	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:155530860T>C	ENST00000404648.3	-	6	827	c.588A>G	c.(586-588)aaA>aaG	p.K196K	FGG_ENST00000405164.1_Silent_p.K204K|FGG_ENST00000336098.3_Silent_p.K196K|FGG_ENST00000407946.1_Silent_p.K204K	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	196	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTTCAGAGGTTTAATAAAGT	0.408000													4	62					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963707	73963707	+	Missense_Mutation	SNP	C	C	T	rs139459124		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:73963707C>T	ENST00000373468.1	-	3	1336	c.685G>A	c.(685-687)Gat>Aat	p.D229N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D229N			Q5QGS0	K2022_HUMAN	KIAA2022	229					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGAGCCGGATCCTCCAAGTCA	0.478000													14	69					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236934	23236934	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23236934C>T	ENST00000400191.3	+	14	2580	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	EPHB2_ENST00000374632.3_Silent_p.A855A|EPHB2_ENST00000374627.1_Silent_p.A849A|EPHB2_ENST00000374630.3_Silent_p.A854A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	854	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCGAGCGCCCTGCACCAAC	0.587000													17	175					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252542	65252542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:65252542G>A	ENST00000389722.3	-	16	3742	c.3689C>T	c.(3688-3690)tCt>tTt	p.S1230F	SPTB_ENST00000389720.3_Missense_Mutation_p.S1230F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1230F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1230F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1230F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1230					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTTGTTTCCAGAGTCCACAGG	0.547000													26	214					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729346	35729346	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:35729346A>T	ENST00000187397.4	+	6	833	c.377A>T	c.(376-378)gAa>gTa	p.E126V	ARPP21_ENST00000444190.1_Missense_Mutation_p.E126V|ARPP21_ENST00000458225.1_Missense_Mutation_p.E126V|ARPP21_ENST00000337271.5_Missense_Mutation_p.E126V|ARPP21_ENST00000417925.1_Missense_Mutation_p.E126V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	126						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAACCTCTGAAAAACCCAAG	0.348000													9	71					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967822	88967822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:88967822G>A	ENST00000237596.2	+	6	1414	c.1348G>A	c.(1348-1350)Ggt>Agt	p.G450S	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	450						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGCAACAGGTGGTGTGATTCC	0.378000													8	108					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166533	140166533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140166533C>T	ENST00000504120.2	+	1	658	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	PCDHA1_ENST00000394633.3_Missense_Mutation_p.P220S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P220S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGCAAACCGGAGCTGCA	0.453000													4	117					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696356	67696356	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67696356A>C	ENST00000458121.2	+	3	935	c.844A>C	c.(844-846)Agt>Cgt	p.S282R	PARD6A_ENST00000602551.1_Missense_Mutation_p.S253R|PARD6A_ENST00000219255.3_Missense_Mutation_p.S283R	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	283					cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGATGACAGCAGTGACCTGGT	0.632000													4	54					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589760	140589760	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140589760G>A	ENST00000239450.2	+	1	1470	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	PCDHB12_ENST00000541609.1_Silent_p.G90G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		427	Cadherin 4.				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)			CCGACTTGGGGACCCCCAGGC	0.532000													22	118					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530936	80530936	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:80530936G>A	ENST00000295057.3	-	2	665	c.9C>T	c.(7-9)ttC>ttT	p.F3F	LRRTM1_ENST00000409148.1_Silent_p.F3F|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGAGCAGCAGGAAATCCATTA	0.557000										HNSCC(69;0.2)			7	112					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657390	143657390	+	Silent	SNP	G	G	A	rs150878069		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143657390G>A	ENST00000392899.1	+	1	364	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTTGGGTGGGATTGAGTTTG	0.537000													12	128					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528070	125528070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:125528070G>A	ENST00000241305.3	-	9	1425	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	424					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTAGCCATCGGGGTTGAGGGA	0.627000													9	108					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11240292	11240292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11240292C>T	ENST00000557933.1	+	17	2642	c.2555C>T	c.(2554-2556)cCa>cTa	p.P852L	LDLR_ENST00000545707.1_Silent_p.T653T|LDLR_ENST00000535915.1_Silent_p.T790T|LDLR_ENST00000455727.2_Silent_p.T663T|LDLR_ENST00000558518.1_Silent_p.T831T|LDLR_ENST00000558013.1_Silent_p.T831T|LDLR_ENST00000560628.1_Intron			P01130	LDLR_HUMAN	low density lipoprotein receptor	563	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ATCAGAAGACCACAGAGGATG	0.552000													7	123					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857458	9857458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857458C>T	ENST00000396573.2	-	14	4252	c.3943G>A	c.(3943-3945)Gac>Aac	p.D1315N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1315N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1315N|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1315					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTTCCCTGTCCTTGAGGCTT	0.512000													8	108					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121674425	121674425	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:121674425C>T	ENST00000393386.2	+	17	5688	c.5277C>T	c.(5275-5277)atC>atT	p.I1759I	PTPRZ1_ENST00000449182.1_Silent_p.I892I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1759	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACATAAATATCGTTGCCTGTA	0.393000													4	52					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722444	14722444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:14722444C>T	ENST00000380911.3	-	1	271	c.227G>A	c.(226-228)aGa>aAa	p.R76K		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	76					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CATCTTCTCTCTCTGCCTCTG	0.567000													9	93					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166701	19166701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:19166701G>A	ENST00000375371.3	-	6	1933	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	638					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)	AAGCAGAGGGGAAAGAGGGCC	0.612000													10	100					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68441139	68441139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:68441139C>T	ENST00000265404.2	+	3	311	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	STAP1_ENST00000396225.1_Missense_Mutation_p.L77F	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	77	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTCACATGCCTTACTGAGCA	0.393000													6	80					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69693672	69693672	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:69693672C>T	ENST00000349945.1	+	8	2509	c.957C>T	c.(955-957)gtC>gtT	p.V319V	NFAT5_ENST00000354436.2_Silent_p.V395V|NFAT5_ENST00000432919.1_Silent_p.V413V|NFAT5_ENST00000567239.1_Silent_p.V413V|NFAT5_ENST00000393742.2_Silent_p.V319V|NFAT5_ENST00000566899.1_Silent_p.V319V	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	395	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCTGATGTCGAAGCCAGAA	0.373000													14	100					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589929	11589929	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11589929G>A	ENST00000294484.6	+	15	3153	c.3015G>A	c.(3013-3015)gtG>gtA	p.V1005V	PTCHD2_ENST00000389575.3_Silent_p.V1005V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1005					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)		GGCCACTAGTGGATACCGGGG	0.637000													12	91					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239110	170239110	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:170239110T>G	ENST00000518525.1	+	11	1635	c.1171T>G	c.(1171-1173)Ttc>Gtc	p.F391V	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.F391V			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	391			F -> L (in dbSNP:rs1063310).			cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCGACAAGTTCAAGTTTGT	0.403000													8	49					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33583681	33583681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:33583681C>T	ENST00000294517.6	+	11	1795	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.A423V|ADC_ENST00000398167.1_Missense_Mutation_p.A423V|ADC_ENST00000373443.3_Missense_Mutation_p.A403V	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	403					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GGGACCCAGGCCTGCCACATC	0.612000													7	47					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328825	37328825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37328825C>T	ENST00000262825.5	+	9	1266	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	CSF2RB_ENST00000536485.1_Missense_Mutation_p.S291F|CSF2RB_ENST00000406230.1_Missense_Mutation_p.S350F|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S344F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	344	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCTCCATCCCTCAACGTG	0.532000													7	48					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79628925	79628925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:79628925G>A	ENST00000372391.2	-	2	340	c.335C>T	c.(334-336)cCc>cTc	p.P112L	AL391421.1_ENST00000372387.1_3'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.P112L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	112					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGAGTCTGAGGGCATGGTGGA	0.597000													6	97					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324876	72324876	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:72324876C>T	ENST00000356056.5	-	3	1366	c.894G>A	c.(892-894)aaG>aaA	p.K298K	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Silent_p.K298K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.K298K|MYO9A_ENST00000564571.1_Silent_p.K298K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	298	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTGAATAAACTTCCCAAAAC	0.333000													3	41					0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7139346	7139346	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7139346G>A	ENST00000320316.3	-	4	1126	c.900C>T	c.(898-900)agC>agT	p.S300S	PHF23_ENST00000571362.1_Silent_p.S233S|PHF23_ENST00000576955.1_Silent_p.S170S|PHF23_ENST00000454255.2_Silent_p.S296S	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	300							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCACCTCCTTGCTTTCACTGT	0.602000													34	293					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886431	228886431	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228886431C>T	ENST00000392056.3	-	6	739	c.693G>A	c.(691-693)agG>agA	p.R231R	SPHKAP_ENST00000344657.5_Silent_p.R231R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	231						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)		TCTCACCGTTCCTAGATTCAT	0.453000													5	52					0	0	1	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448490	45448490	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:45448490C>T	ENST00000419266.2	+	3	352	c.312C>T	c.(310-312)tcC>tcT	p.S104S	APOC4-APOC2_ENST00000436871.1_Silent_p.S104S|APOC4-APOC2_ENST00000589057.1_Intron|APOC4_ENST00000592954.1_Silent_p.S104S																							TCCTCGAATCCAAAGACAGCC	0.567000													52	356					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430031	179430031	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179430031T>A	ENST00000589042.1	-	326	81052	c.80828A>T	c.(80827-80829)aAc>aTc	p.N26943I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N25302I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N17878I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N18070I|TTN_ENST00000359218.5_Missense_Mutation_p.N18003I|TTN_ENST00000342992.6_Missense_Mutation_p.N24375I|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25302	Fibronectin type-III 96.						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)			GTCATCTTTGTTACCTTCTTT	0.398000													8	46					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190167526	190167526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:190167526G>A	ENST00000354905.2	-	1	139	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	25						integral to membrane		p.Q25*(1)		endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		ATAGTTACCTGGAATAGCGGC	0.408000													5	43					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:84567050C>T	ENST00000369689.1	+	4	480	c.329C>T	c.(328-330)tCa>tTa	p.S110L	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.S52L	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323000													9	102					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424927	113424927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113424927C>T	ENST00000392583.2	+	2	469	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	OAS2_ENST00000449768.2_Nonsense_Mutation_p.Q88*|OAS2_ENST00000342315.4_Nonsense_Mutation_p.Q88*|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	88	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACAATTCCAGGATCAGAA	0.453000													10	100					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730439	110730439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:110730439G>A	ENST00000282356.4	+	5	816	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CAMK4_ENST00000512453.1_Missense_Mutation_p.D140N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	140	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGTGAGCGAGATGCTGCAGA	0.388000													4	56					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:70079874G>A	ENST00000446444.1	-	1	575	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000													5	50					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208432	106208432	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106208432G>A	ENST00000390548.2	-	0	467																											AGTTGAACTTGACCTCAGGGT	0.587000													31	216					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69400280	69400280	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:69400280C>T	ENST00000337103.4	+	4	2018	c.426C>T	c.(424-426)ctC>ctT	p.L142L	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Silent_p.L167L|C8orf34_ENST00000539993.1_Silent_p.L167L|C8orf34_ENST00000518698.1_Silent_p.L253L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	167					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATGAACTCGATAAGGTAA	0.274000													4	30					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707795	50707795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:50707795C>T	ENST00000330943.4	-	4	644	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	158	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGGGCGCGCCGACGCTCACA	0.642000													6	44					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98192094	98192094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:98192094C>T	ENST00000284049.3	-	35	5272	c.5123G>A	c.(5122-5124)cGg>cAg	p.R1708Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1708					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTATGTTTTCCGACTACTCCA	0.388000													3	69					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36779958C>T	ENST00000416516.2	-	2	683	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612000													11	132					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103248989	103248989	+	Missense_Mutation	SNP	G	G	A	rs62514931		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:103248989G>A	ENST00000553106.1	-	6	1103	c.631C>T	c.(631-633)Cca>Tca	p.P211S	PAH_ENST00000307000.2_Missense_Mutation_p.P206S	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	211			P -> T (in PKU; haplotype 4).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCAAGAAGTGGAAAAATGTGA	0.433000													6	64					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197979	142197979	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142197979G>A	ENST00000471935.1	-	0	90																											GGAGACAGAGGGCCGCCTAGC	0.517000													6	75					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524916	112524916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:112524916C>T	ENST00000369697.1	-	1	502	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KCND3_ENST00000302127.4_Missense_Mutation_p.E145K|KCND3_ENST00000315987.2_Missense_Mutation_p.E145K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	145						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGAGCCGCTCGGCGTTCTCC	0.627000													4	57					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78056613	78056613	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:78056613G>A	ENST00000299642.4	+	1	202	c.117G>A	c.(115-117)agG>agA	p.R39R	CLEC3A_ENST00000575655.1_Silent_p.R30R|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	30					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TAAAAGCCAGGAAGCACAGCA	0.483000													5	60					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634983	37634983	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:37634983T>C	ENST00000252011.3	+	12	1239	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	DHX35_ENST00000373323.4_Silent_p.C371C|DHX35_ENST00000373325.2_Silent_p.C402C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	402	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CGGGAAAATGTTATCGCCTTT	0.488000													13	94					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827107	143827107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143827107G>A	ENST00000408899.2	+	1	957	c.902G>A	c.(901-903)aGg>aAg	p.R301K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGCGCCCTGAGGAGGGCACTG	0.493000													15	198					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649469	154649469	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:154649469C>T	ENST00000347063.4	-	4	663	c.291G>A	c.(289-291)acG>acA	p.T97T	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	97						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATAATTTTATCGTGAAATATA	0.453000													10	146					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775299	1775299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1775299G>A	ENST00000427721.1	-	4	508	c.509C>T	c.(508-510)cCc>cTc	p.P170L	CTSD_ENST00000236671.2_Silent_p.S299S																							CCACCATGAGGGAAGTGCCTG	0.706000													3	41					0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10426589	10426589	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10426589C>T	ENST00000541276.1	-	1	96	c.93G>A	c.(91-93)ggG>ggA	p.G31G	FDX1L_ENST00000393708.3_Silent_p.G28G|CTD-2369P2.12_ENST00000586529.1_Intron|CTD-2369P2.10_ENST00000452032.2_Silent_p.G28G|FDX1L_ENST00000494368.1_Intron			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	28					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CGGAAGTGCCCCCAGGTCTGT	0.672000													3	43					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084538	248084538	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248084538C>T	ENST00000319968.4	+	1	219	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTGGTTTCCACCACTGTGC	0.572000													6	103					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64692100	64692100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64692100C>T	ENST00000554584.1	+	115	20326	c.20275C>T	c.(20275-20277)Cct>Tct	p.P6759S	SYNE2_ENST00000358025.3_Silent_p.P6860P|SYNE2_ENST00000555022.1_Silent_p.P716P|SYNE2_ENST00000344113.4_Silent_p.P6838P|SYNE2_ENST00000554805.1_Silent_p.P621P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Silent_p.P509P|SYNE2_ENST00000441438.2_Silent_p.P382P|SYNE2_ENST00000394768.2_Silent_p.P3223P|SYNE2_ENST00000555002.1_Silent_p.P3494P|SYNE2_ENST00000357395.3_Silent_p.P3223P			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	0					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGCCCTACCCctgcagctgc	0.647000													8	43					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42656116	42656116	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42656116C>T	ENST00000372901.1	+	45	5274	c.5016C>T	c.(5014-5016)atC>atT	p.I1672I	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.I1672I			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1672					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGTGGGCATCTTCCTGAGGT	0.517000													18	144					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35333169	35333169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35333169G>A	ENST00000373347.1	-	10	2813	c.2545C>T	c.(2545-2547)Cag>Tag	p.Q849*	DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.Q849*			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	849					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGAACTGCTGAACCTTCTGG	0.517000													39	352					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329397	69329397	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:69329397C>T	ENST00000260364.5	+	9	1465	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	NOX5_ENST00000530406.2_Silent_p.L378L|NOX5_ENST00000448182.3_Silent_p.L360L|NOX5_ENST00000455873.3_Silent_p.L371L|NOX5_ENST00000388866.3_Silent_p.L406L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	406	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTCCTACCTCCTCGTGTGGC	0.572000													22	247					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8626763	8626763	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:8626763G>A	ENST00000378641.3	+	5	874	c.399G>A	c.(397-399)gaG>gaA	p.E133E	PLCB1_ENST00000378637.2_Silent_p.E133E|PLCB1_ENST00000338037.6_Silent_p.E133E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	133					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGACAAATGAGGTTTTCAGTT	0.408000													12	74					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955512	215955512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:215955512G>A	ENST00000366943.2	-	54	10998	c.10612C>T	c.(10612-10614)Cga>Tga	p.R3538*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.R3538*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3538	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCCATTTCGAAGAAGGATG	0.343000										HNSCC(13;0.011)			4	39					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757052	116757052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116757052G>A	ENST00000331677.3	+	7	1865	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	DSE_ENST00000452085.3_Missense_Mutation_p.G474E|DSE_ENST00000537543.1_Missense_Mutation_p.G493E|DSE_ENST00000359564.2_Missense_Mutation_p.G474E			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	474					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCTCTGTACGGGCCAAAGTAC	0.448000													7	48					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107712800	107712800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:107712800C>T	ENST00000280758.5	+	1	611	c.83C>T	c.(82-84)tCg>tTg	p.S28L	BTBD11_ENST00000490090.2_Missense_Mutation_p.S28L|BTBD11_ENST00000420571.2_Missense_Mutation_p.S28L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	28						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGGCGGACTCGGTGCGCTCC	0.642000													3	31					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18234053	18234053	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18234053C>T	ENST00000262811.5	+	6	339	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	113							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGGAACGTCTCCACCAGCTTC	0.612000													7	85					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528303	7528303	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7528303G>A	ENST00000313599.3	-	10	2736	c.2679C>T	c.(2677-2679)gtC>gtT	p.V893V	CD163L1_ENST00000396630.1_Silent_p.V893V|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Silent_p.V903V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	893	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACGGGAACAGACAACTCCAA	0.453000													9	108					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161160173	161160173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161160173G>A	ENST00000308192.9	+	16	2014	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	651	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCATGTTCAGGAAATAGAAGT	0.498000													6	94					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805279	54805279	+	Missense_Mutation	SNP	C	C	T	rs115872183	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:54805279C>T	ENST00000306858.7	+	5	1626	c.1510C>T	c.(1510-1512)Cat>Tat	p.H504Y		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	504										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAATGATCATTCAGAAGC	0.408000													5	73					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417818	54417818	+	Silent	SNP	G	G	A	rs149797266		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54417818G>A	ENST00000391767.1	+	3	473	c.261G>A	c.(259-261)acG>acA	p.T87T	CACNG7_ENST00000391766.1_Silent_p.T87T|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Silent_p.T87T			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	87					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATTTGGTGACGGAAAACACGG	0.552000													8	85					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660784	47660784	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:47660784C>T	ENST00000397708.1	-	27	5828	c.5574G>A	c.(5572-5574)gaG>gaA	p.E1858E	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.E1858E|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1858					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCAAGAGCTCCTCAGCAGAAG	0.517000													4	130					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141337076	141337076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:141337076C>T	ENST00000231484.3	-	1	1551	c.341G>A	c.(340-342)gGg>gAg	p.G114E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	114	Cadherin 1.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAATCCCCTGTGGCAAG	0.572000													7	142					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743953	40743953	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:40743953C>T	ENST00000373198.3	-	23	3286	c.3051G>A	c.(3049-3051)gtG>gtA	p.V1017V	PTPRT_ENST00000356100.2_Silent_p.V1004V|PTPRT_ENST00000373187.1_Silent_p.V995V|PTPRT_ENST00000373190.1_Silent_p.V994V|PTPRT_ENST00000373193.3_Silent_p.V998V|PTPRT_ENST00000373201.1_Silent_p.V985V|PTPRT_ENST00000373184.1_Silent_p.V1005V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	995	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCACACATTTCACCTGTGGCC	0.512000													5	75					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281455	125281455	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125281455C>T	ENST00000340750.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTCTGAGTTCCTCCTCCTGG	0.512000													27	146					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420351	43420351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43420351G>A	ENST00000601833.1	-	2	1423	c.140C>T	c.(139-141)tCc>tTc	p.S47F	PSG6_ENST00000187910.2_Missense_Mutation_p.S118F|PSG6_ENST00000402603.4_Missense_Mutation_p.S118F|PSG6_ENST00000292125.2_Missense_Mutation_p.S118F					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TAAGGTGTAGGATCCTGCATC	0.478000													15	400					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	652848	652848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:652848C>T	ENST00000292363.5	-	2	267	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	38							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGCTCCTCGATAAAACCA	0.597000													4	37					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31312028	31312028	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31312028G>A	ENST00000269197.5	+	9	976	c.976_splice	c.e9+1	p.G326_splice		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTGGCAGAAGGTAAATTTGT	0.393000													5	71					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754071	49754071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:49754071C>T	ENST00000304801.3	-	1	982	c.830G>A	c.(829-831)gGt>gAt	p.G277D		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	277					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AATCCTTACACCATTCTTTTG	0.438000													10	114					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938287	140938287	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140938287G>A	ENST00000277549.5	+	21	3493	c.924G>A	c.(922-924)gtG>gtA	p.V308V	CACNA1B_ENST00000371355.4_Silent_p.V1117V|CACNA1B_ENST00000371357.1_Silent_p.V1117V|CACNA1B_ENST00000371363.1_Silent_p.V1116V|CACNA1B_ENST00000371372.1_Silent_p.V1116V|CACNA1B_ENST00000545473.1_Silent_p.V142V|CACNA1B_ENST00000277551.2_Silent_p.V1116V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1116					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGGATGACGTGATGAGGAGCG	0.602000													55	199					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390814	197390814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197390814G>A	ENST00000367400.3	+	6	1991	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.G619E|CRB1_ENST00000535699.1_Missense_Mutation_p.G550E|CRB1_ENST00000367399.2_Missense_Mutation_p.G507E|CRB1_ENST00000544212.1_Missense_Mutation_p.G100E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	619	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						TTACCAGTGGGAATGACCAGC	0.418000													14	122					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578863	82578863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82578863C>T	ENST00000423517.2	-	6	11378	c.11041G>A	c.(11041-11043)Gac>Aac	p.D3681N	PCLO_ENST00000333891.8_Missense_Mutation_p.D3681N|PCLO_ENST00000437081.1_Missense_Mutation_p.D401N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3612					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D3681H(2)|p.D3612H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTGGGGTCAGACATAGAA	0.483000													13	161					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19628935	19628935	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:19628935T>G	ENST00000299295.2	+	2	580	c.189T>G	c.(187-189)agT>agG	p.S63R	CHODL_ENST00000400131.1_Missense_Mutation_p.S22R|CHODL_ENST00000400135.1_Missense_Mutation_p.S22R|CHODL_ENST00000338326.3_Missense_Mutation_p.S22R|CHODL_ENST00000543733.1_Missense_Mutation_p.S44R|CHODL_ENST00000400128.1_Missense_Mutation_p.S22R|CHODL_ENST00000400127.1_Missense_Mutation_p.S22R	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	63	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTTGTGAGAGTGAGGGAGGAG	0.498000													6	56					0	0	1	0	0
FOXD4L3	286380	broad.mit.edu	37	9	70918873	70918873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:70918873G>A	ENST00000342833.2	+	1	1598	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	336						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGGGTCAGGGGAGCGGGTACA	0.627000													23	284					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843760	28843760	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:28843760T>C	ENST00000422425.2	+	48	3453	c.3409T>C	c.(3409-3411)Ttc>Ctc	p.F1137L	PLB1_ENST00000327757.5_Missense_Mutation_p.F1148L|PLB1_ENST00000541605.1_Missense_Mutation_p.F113L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1148	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTGAAGAAGTTCAACCCTTA	0.557000													30	209					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415434	213415434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:213415434G>A	ENST00000366960.3	+	11	2765	c.2615G>A	c.(2614-2616)aGt>aAt	p.S872N	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S660N|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S575N|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S860N	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	872	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGGGTGAAAGTGGTTTAGTG	0.403000													4	66					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631717	51631717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51631717G>A	ENST00000440804.3	+	6	1220	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G385R	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	385					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGCGGGCGTGGGAGATACGGG	0.587000													14	130					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145535820	145535820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:145535820G>A	ENST00000369304.3	+	16	2183	c.2008G>A	c.(2008-2010)Ggc>Agc	p.G670S	ITGA10_ENST00000538811.1_Missense_Mutation_p.G539S|ITGA10_ENST00000539363.1_Missense_Mutation_p.G527S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	670					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGGCGGCGAGGCCAAGAGGC	0.577000													9	83					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300777	103300777	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103300777C>T	ENST00000233969.2	+	5	1549	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	469						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGTCATATTCTTTACTGTCT	0.403000													15	159					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36491997	36491997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:36491997C>T	ENST00000342292.4	-	5	1278	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	420						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGACAGTTTCCAGCAGGACC	0.552000													12	127					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043123	74043123	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74043123G>A	ENST00000409561.1	+	3	1894	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	591	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGCAGTCAGGGAAAAAAGTCA	0.438000													3	43					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12341302	12341302	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:12341302A>G	ENST00000256186.2	+	4	1777	c.1486A>G	c.(1486-1488)Acc>Gcc	p.T496A		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	496	Poly-Ser.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGCCTCTTCAACCTCCTCCTC	0.493000													10	98					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828252	150828252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150828252C>T	ENST00000370357.4	+	10	1030	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	262						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373000													7	45					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60709553	60709553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60709553G>A	ENST00000227880.3	-	4	1294	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	354					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GATGTTGGCCGGGTTGGCTGG	0.572000													23	234					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240893	60240893	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:60240893A>G	ENST00000400324.4	-	28	3627	c.3407T>C	c.(3406-3408)cTt>cCt	p.L1136P	DIAPH3_ENST00000400330.1_Missense_Mutation_p.L1136P|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L1066P|DIAPH3_ENST00000400320.1_Missense_Mutation_p.L1090P|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L1125P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1136					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATTATAATTAAGCTCCTTGGC	0.418000													16	102					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510461	9510461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:9510461G>A	ENST00000246070.2	+	6	1329	c.837G>A	c.(835-837)atG>atA	p.M279I	LAMP5_ENST00000427562.2_Missense_Mutation_p.M235I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	279						integral to membrane											ATAAGCACATGGGCTAGAGGC	0.522000													9	88					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396264	34396264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:34396264C>T	ENST00000397766.2	+	1	1991	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	511										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CGTCCTTGCTCCGATGATGTC	0.488000													6	32					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614248	36614248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:36614248G>A	ENST00000311485.3	-	2	1632	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S		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	491					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)				ACTCTTTGGGGAGTGTGTAGA	0.448000									Familial Hemophagocytic Lymphohistiocytosis				11	98					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5045710	5045710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:5045710G>A	ENST00000574788.1	+	25	3961	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	USP6_ENST00000304328.5_Missense_Mutation_p.M260I|USP6_ENST00000332776.4_Missense_Mutation_p.M577I|USP6_ENST00000250066.6_Missense_Mutation_p.M577I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	577					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCATTGGTATGAAGGGGCATA	0.423000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								9	75					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24435576	24435576	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:24435576G>A	ENST00000355123.4	-	33	4475	c.4032C>T	c.(4030-4032)tcC>tcT	p.S1344S	ITSN2_ENST00000361999.3_Silent_p.S1317S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1344	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGAAGCTGGAGAGGGGCA	0.572000													29	244					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32614620	32614620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32614620C>T	ENST00000266086.4	-	15	1872	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	621					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGCTTCCTCCTCCTCC	0.507000													35	124					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889714	34889714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:34889714G>A	ENST00000381831.3	-	15	2167	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	GART_ENST00000381839.3_Missense_Mutation_p.S635F|GART_ENST00000543717.1_Missense_Mutation_p.S187F|GART_ENST00000381815.4_Missense_Mutation_p.S635F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	635	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTACTGGAGGGAAGATTTTGC	0.458000													13	142					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004519	248004519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248004519C>T	ENST00000355784.2	-	1	735	c.680G>A	c.(679-681)aGa>aAa	p.R227K		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAAGGGATTCTCAATATGGA	0.493000													3	57					0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998971	8998971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8998971G>A	ENST00000310455.3	-	2	341	c.191C>T	c.(190-192)tCc>tTc	p.S64F	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.S64F|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	64					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GTCTGCGAAGGACACCCGCTT	0.537000													10	92					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8008884	8008884	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:8008884C>T	ENST00000537635.1	+	1	448	c.30C>T	c.(28-30)tcC>tcT	p.S10S	EIF3F_ENST00000533626.1_5'UTR|EIF3F_ENST00000309828.4_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCCGCCTCCTTCTTTCTCG	0.567000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	298					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040878	29040878	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:29040878A>G	ENST00000257189.4	+	7	850	c.767A>G	c.(766-768)aAa>aGa	p.K256R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	256	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTAATATTAAAGTGAAAGAT	0.343000													8	39					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660665	8660665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8660665G>A	ENST00000270328.4	-	11	1726	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.S487L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	487	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACACTGACGCGATTTGACTCC	0.612000													15	284					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539750	62539750	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:62539750C>T	ENST00000570077.1	-	0	170																											TGTGCCCGTTCGTCTGTGGGC	0.562000													5	38					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44593483	44593483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44593483C>T	ENST00000245121.5	+	8	796	c.602C>T	c.(601-603)cCt>cTt	p.P201L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P273L	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	273						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P201H(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GTTGTGTATCCTATAAGGGTA	0.433000													3	31					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271053	1271053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1271053G>A	ENST00000447027.1	+	31	13010	c.12952G>A	c.(12952-12954)Gcc>Acc	p.A4318T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4315T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4315	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACAAGCACAGCCACCAAATC	0.622000													35	255					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720901	95720901	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:95720901G>A	ENST00000480546.1	-	0	396					NR_002319.2																						GTCTTGAAACGAAAGGCATTG	0.498000													10	125					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831831	32831831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32831831G>A	ENST00000397452.1	-	9	894	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.P262S|BPIFC_ENST00000432451.2_Missense_Mutation_p.P76S			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	262						extracellular region	lipopolysaccharide binding|phospholipid binding										GGTGAGAAGGGGGGGTCGGTG	0.458000													11	85					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69520804	69520804	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69520804T>C	ENST00000341516.5	-	9	2746	c.2599A>G	c.(2599-2601)Act>Gct	p.T867A	DCAF5_ENST00000557386.1_Missense_Mutation_p.T866A|DCAF5_ENST00000556847.1_Missense_Mutation_p.T785A|DCAF5_ENST00000554215.1_Missense_Mutation_p.T785A	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	867						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCACGGTCAGTGTCTGAGTGT	0.562000													8	63					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029489	32029489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32029489C>T	ENST00000375244.3	-	21	7378	c.7177G>A	c.(7177-7179)Gaa>Aaa	p.E2393K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2393K			P22105	TENX_HUMAN	tenascin XB	2453	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGTCTCTTCCTCTGCAGCT	0.622000													4	60					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50873432	50873432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50873432C>T	ENST00000359139.3	+	13	1832	c.1438C>T	c.(1438-1440)Ctc>Ttc	p.L480F	PPP6R2_ENST00000395744.3_Missense_Mutation_p.L480F|PPP6R2_ENST00000395741.3_Missense_Mutation_p.L481F|PPP6R2_ENST00000216061.5_Missense_Mutation_p.L480F	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	480						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CATGGGCCACCTCACACGGAT	0.672000													8	46					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022114	120022114	+	Missense_Mutation	SNP	G	G	A	rs35167981		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:120022114G>A	ENST00000379551.2	+	3	913	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	PRR16_ENST00000446965.1_Missense_Mutation_p.E139K|PRR16_ENST00000505123.1_Missense_Mutation_p.E139K|PRR16_ENST00000407149.2_Missense_Mutation_p.E209K	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	209	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCGGTTTAATGAAAAAGTACA	0.488000													5	38					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40827465	40827465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40827465C>T	ENST00000396617.3	-	6	673	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	MKL1_ENST00000355630.3_Missense_Mutation_p.R28Q|MKL1_ENST00000402042.1_Missense_Mutation_p.R28Q|MKL1_ENST00000407029.1_Missense_Mutation_p.R28Q|MKL1_ENST00000402630.1_Missense_Mutation_p.R28Q			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	28	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACGAATCTTCCGTTTGAGATA	0.483000			T	RBM15	acute megakaryocytic leukemia								19	307					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055570	75055570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75055570C>T	ENST00000326665.5	-	12	2139	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E444K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	641	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTTCAATTTCTAAGGATTCC	0.408000													8	61					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134994	71134994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:71134994G>A	ENST00000333538.5	+	8	1938	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	435						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGAAAGAAGAGCATTAAGG	0.463000													7	85					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185902907	185902907	+	Silent	SNP	T	T	A	rs140611904		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:185902907T>A	ENST00000271588.4	+	11	2008	c.1779T>A	c.(1777-1779)gtT>gtA	p.V593V	HMCN1_ENST00000367492.2_Silent_p.V593V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	593	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTATGGTTTCTAGTGAAG	0.433000													6	100					0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159707982	159707982	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:159707982C>T	ENST00000305579.2	+	2	454	c.147C>T	c.(145-147)ctC>ctT	p.L49L	CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Silent_p.L49L|IL12A_ENST00000466512.1_Silent_p.L49L	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	15					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCTGGTCCTCCTGGACCACC	0.612000													8	75					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156261254	156261254	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156261254G>T	ENST00000357501.2	+	4	490	c.334G>T	c.(334-336)Gtc>Ttc	p.V112F	TMEM79_ENST00000295694.5_Silent_p.L350L|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000405535.2_Silent_p.L350L			Q9BSE2	TMM79_HUMAN	transmembrane protein 79	0						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGCCACTGCTGTCGATGCTGA	0.622000													24	216					3.65163e-15	3.70374e-15	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54798243	54798243	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:54798243G>A	ENST00000293379.4	-	14	1695	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	478					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCACACCAAAGGACCCCACAA	0.493000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	445					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202182	140202182	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140202182G>A	ENST00000529859.1	+	1	822	c.822G>A	c.(820-822)aaG>aaA	p.K274K	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.K274K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.K274K|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAATAAGGAAATAGTGT	0.328000													4	60					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054212	29054212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:29054212G>A	ENST00000257189.4	+	15	2313	c.2230G>A	c.(2230-2232)Gga>Aga	p.G744R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	744					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACAGTGTCAGGAGCTGCTTC	0.537000													7	61					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848715	92848715	+	Silent	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92848715G>C	ENST00000394468.2	-	2	206	c.129C>G	c.(127-129)ggC>ggG	p.G43G	HEPACAM2_ENST00000440868.1_Silent_p.G31G|HEPACAM2_ENST00000341723.4_Silent_p.G31G|HEPACAM2_ENST00000453812.2_Silent_p.G66G	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	43						integral to membrane		p.G31G(1)|p.G43G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACCTCTGACGCCATGGACAG	0.517000													6	89					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482780	20482780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20482780C>T	ENST00000305045.2	-	1	572	c.573G>A	c.(571-573)atG>atA	p.M191I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATAGGTGTCCATGCAGGCAA	0.483000													4	82					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696119	10696119	+	Silent	SNP	G	G	A	rs148416497		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:10696119G>A	ENST00000302079.6	-	43	6803	c.6804C>T	c.(6802-6804)ttC>ttT	p.F2268F	PIEZO2_ENST00000538948.1_Silent_p.F225F|PIEZO2_ENST00000503781.3_Silent_p.F2268F|PIEZO2_ENST00000580640.1_Silent_p.F2293F|PIEZO2_ENST00000285141.4_Silent_p.F123F			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2268						integral to membrane	ion channel activity										AGTGAATTCCGAACACAAGAA	0.498000													6	117					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100257891	100257891	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100257891G>A	ENST00000515683.1	-	0	1497					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGCTACAAGGGAAGGCATCTG	0.398000													3	31					0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28543051	28543051	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28543051G>A	ENST00000381020.7	-	1	2225	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	31					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGGCTGACGAAGTTCTGCG	0.672000			T	ETV6	AML								3	21					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935675	94935675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94935675G>A	ENST00000337425.5	-	2	631	c.557C>T	c.(556-558)cCc>cTc	p.P186L	SERPINA9_ENST00000380365.3_Missense_Mutation_p.P168L|SERPINA9_ENST00000546329.1_Missense_Mutation_p.P150L|SERPINA9_ENST00000424550.2_Missense_Mutation_p.P37L|SERPINA9_ENST00000448305.2_Missense_Mutation_p.P88L|SERPINA9_ENST00000298845.7_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	168					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCAATGGAGGGGTTGGAGAA	0.498000													29	182					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113765467	113765467	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:113765467A>G	ENST00000295878.3	-	3	388	c.242T>C	c.(241-243)aTa>aCa	p.I81T	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	81										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATGATCCTCTATTTGCTCAGA	0.373000													6	56					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43411107C>T	ENST00000187910.2	-	5	1272	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG6_ENST00000402603.4_Missense_Mutation_p.E310K|PSG6_ENST00000292125.2_Missense_Mutation_p.E403K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTGGAGATTTCCTTGCCAGTG	0.448000													40	256					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887927	9887927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:9887927G>A	ENST00000306084.6	+	2	1650	c.1451G>A	c.(1450-1452)aGg>aAg	p.R484K	TXNDC2_ENST00000357775.4_Missense_Mutation_p.R417K|TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000577697.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	484	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGGCCCTGCAGGACCATCAGA	0.582000													7	63					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189918899	189918899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:189918899G>A	ENST00000374866.3	-	36	2705	c.2431C>T	c.(2431-2433)Cct>Tct	p.P811S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	811				PT -> LL (in Ref. 1; CAA75002 and 9; CAA28454).	axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTCCAGTAGGACCTGCCGGA	0.388000													8	74					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356583	55356583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55356583C>T	ENST00000524622.1	-	7	1346	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	TESPA1_ENST00000316577.8_Missense_Mutation_p.E367K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E229K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E229K|TESPA1_ENST00000449076.1_Missense_Mutation_p.E367K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	367																	TGCTGTGTTTCCTCTTCACAG	0.517000													4	37					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297413	18297413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:18297413C>T	ENST00000377671.3	+	7	2474	c.1915C>T	c.(1915-1917)Cct>Tct	p.P639S	ZNF133_ENST00000402618.2_Missense_Mutation_p.P577S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P640S|ZNF133_ENST00000396026.3_Missense_Mutation_p.P643S|ZNF133_ENST00000535822.1_Missense_Mutation_p.P545S|ZNF133_ENST00000316358.4_Missense_Mutation_p.P640S|ZNF133_ENST00000538547.1_Missense_Mutation_p.P545S	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	640						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCAGCCCGACCCTGAGCCGTG	0.542000													8	102					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109391555	109391555	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:109391555C>T	ENST00000370001.3	-	4	1429	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	AKNAD1_ENST00000369995.3_Silent_p.Q387Q|AKNAD1_ENST00000369994.1_Silent_p.Q387Q|AKNAD1_ENST00000357393.4_Silent_p.Q94Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	387										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTTGATCAGTCTGTTCTTTCA	0.338000													5	66					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897586	104897586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:104897586C>T	ENST00000533400.1	-	8	1134	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CASP1_ENST00000534497.1_Missense_Mutation_p.E226K|CASP1_ENST00000598974.1_Missense_Mutation_p.E367K|CASP1_ENST00000436863.3_Missense_Mutation_p.E367K|CASP1_ENST00000594519.1_Missense_Mutation_p.E226K|CASP1_ENST00000593315.1_Missense_Mutation_p.E346K|CASP1_ENST00000353247.5_Missense_Mutation_p.E51K|CASP1_ENST00000531166.1_Missense_Mutation_p.E51K|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000527979.1_Missense_Mutation_p.E330K|CASP1_ENST00000526568.1_Missense_Mutation_p.E274K|CASP1_ENST00000525825.1_Missense_Mutation_p.E346K|CASP1_ENST00000446369.1_Missense_Mutation_p.E226K|CASP1_ENST00000415981.2_Missense_Mutation_p.E51K|CASP1_ENST00000393136.4_Missense_Mutation_p.E346K	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	367					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAAATTTCCTCCACATCACAG	0.408000													10	65					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81504327	81504327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:81504327G>A	ENST00000358105.3	+	3	372	c.323G>A	c.(322-324)gGa>gAa	p.G108E	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.G108E	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	108										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATCGCAGTGGAAAACTGAGT	0.343000													5	50					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924156	188924156	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:188924156G>A	ENST00000326866.4	+	4	603	c.195G>A	c.(193-195)ggG>ggA	p.G65G	ZFP42_ENST00000509524.1_Silent_p.G65G	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	65					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CTCTCGGAGGGGATGATTTCT	0.507000													4	60					0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7194115	7194115	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrY:7194115C>T	ENST00000528056.1	+	0	845					NR_028062.1													p.I168I(2)		large_intestine(2)|lung(3)|skin(1)	6						CCAAGGAGATCGTCTACAGGG	0.547000													14	43					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857300	9857300	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857300G>A	ENST00000396573.2	-	14	4410	c.4101C>T	c.(4099-4101)ttC>ttT	p.F1367F	GRIN2A_ENST00000330684.3_Silent_p.F1367F|GRIN2A_ENST00000396575.2_Silent_p.F1367F|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1367					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAGTGGAGGAAAGGGTTAT	0.547000													4	47					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832886	11832886	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11832886T>C	ENST00000341191.6	-	4	1616	c.1463A>G	c.(1462-1464)cAa>cGa	p.Q488R	ZNF823_ENST00000545749.1_Missense_Mutation_p.Q306R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCTTTTATGTTGAGAAAGGTA	0.373000										HNSCC(68;0.2)			8	114					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366416	248366416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248366416G>A	ENST00000456743.1	+	1	85	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16E(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCCTCCTGGGAATCTTCAAT	0.463000													8	213					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444719	75444719	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:75444719G>A	ENST00000549446.1	-	3	1746	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	KCNC2_ENST00000550433.1_Silent_p.L356L|KCNC2_ENST00000341669.3_Silent_p.L356L|KCNC2_ENST00000540018.1_Silent_p.L356L|KCNC2_ENST00000298972.1_Silent_p.L356L|KCNC2_ENST00000548513.1_Silent_p.L356L|KCNC2_ENST00000393288.2_Silent_p.L356L|KCNC2_ENST00000350228.2_Silent_p.L356L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	356					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAAATTCTCAGGATCCTCACA	0.458000													4	48					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70922898	70922898	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:70922898G>A	ENST00000264436.3	-	6	954	c.510C>T	c.(508-510)atC>atT	p.I170I	ADD2_ENST00000407644.2_Silent_p.I170I|ADD2_ENST00000430656.1_Silent_p.I186I|ADD2_ENST00000413157.2_Silent_p.I170I|ADD2_ENST00000355733.3_Silent_p.I170I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	170					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTAGGGCTGATCAGGAAGT	0.522000													6	52					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43173647	43173647	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:43173647G>A	ENST00000522175.2	+	0	933							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGATTATCAGAAAACCTGAC	0.378000													8	101					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476563	35476563	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35476563C>T	ENST00000357182.4	-	9	1364	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Silent_p.P379P|ZMYM6_ENST00000373340.2_Silent_p.P379P	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	379					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAGGAGGGCGGGCTTACAA	0.532000													8	57					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113363430	113363430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113363430C>T	ENST00000297405.5	-	40	6543	c.6299G>A	c.(6298-6300)tGg>tAg	p.W2100*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2060*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W1996*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2030*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2100	Sushi 11.					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						TGGATAATTCCATCTTCTTAC	0.294000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	114					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569216	20569216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:20569216G>A	ENST00000504154.1	+	28	3178	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	SLIT2_ENST00000273739.5_Missense_Mutation_p.E980K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E972K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E968K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	976	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCACTTAAAGGAAGGAGAAGA	0.433000													5	43					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488720	128488720	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128488720C>T	ENST00000325888.8	+	27	4947	c.4686C>T	c.(4684-4686)ttC>ttT	p.F1562F	FLNC_ENST00000346177.6_Silent_p.F1562F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1562					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTGGAGTTCACCATCGACG	0.647000													10	152					0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7276770	7276770	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7276770C>T	ENST00000266560.3	-	4	521	c.354_splice	c.e4-1	p.E119_splice		NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular	119						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GCAGTCAGTTCCTGGGGAGAG	0.577000													6	67					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186482	30186482	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30186482C>G	ENST00000397771.2	-	20	2255	c.2078G>C	c.(2077-2079)cGc>cCc	p.R693P	ASCC2_ENST00000542393.1_Missense_Mutation_p.R617P|ASCC2_ENST00000307790.3_Missense_Mutation_p.R693P			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AAAGGCCATGCGCCTGGCTTC	0.602000													7	61					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716429	39716429	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:39716429T>C	ENST00000553728.1	+	4	864	c.651T>C	c.(649-651)tcT>tcC	p.S217S	MIA2_ENST00000280082.3_Silent_p.S217S|MIA2_ENST00000556784.1_Silent_p.S216S																							TCCCACCATCTTCAGCTGTGT	0.423000													7	71					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102693	81102693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81102693C>T	ENST00000228641.3	+	3	905	c.683C>T	c.(682-684)tCg>tTg	p.S228L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	228					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTATTTCCTCGGAGGAACGC	0.522000													8	62					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991054	39991054	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:39991054A>G	ENST00000332312.3	-	4	1347	c.1155T>C	c.(1153-1155)tgT>tgC	p.C385C		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	385						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTAGTTGCCCACAGCAGCTGC	0.682000													5	31					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	400039	400039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:400039C>T	ENST00000382181.2	+	4	809	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	RBCK1_ENST00000356286.5_Missense_Mutation_p.P170L|RBCK1_ENST00000353660.3_Missense_Mutation_p.P128L			Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	477	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCTCTGGAGCCAGGCCCCCCA	0.672000													6	37					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123109328	123109328	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123109328C>T	ENST00000466202.1	-	9	2097	c.1521G>A	c.(1519-1521)ctG>ctA	p.L507L	IQUB_ENST00000434450.1_Silent_p.L507L|IQUB_ENST00000324698.6_Silent_p.L507L			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	507										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGATATTTTTCAGCATAATGC	0.398000													7	102					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767709	105767709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:105767709G>A	ENST00000374798.3	+	5	866	c.796G>A	c.(796-798)Gag>Aag	p.E266K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E266K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	266	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGATGCAAAGGAGATTAAAAA	0.383000													10	51					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604936	2604936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2604936G>A	ENST00000358864.1	+	17	2215	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	734						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAATGTACGATGTCCTCCA	0.507000													4	73					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626556	66626556	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66626556C>T	ENST00000309602.4	+	1	1584	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	447	Fibronectin type-III.					integral to membrane		p.L447L(1)		breast(1)|lung(1)|prostate(1)	3						ATGAGACCCTCATCTACCGGT	0.652000													28	145					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372585	126372585	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126372585A>G	ENST00000394329.3	+	9	10427	c.10414A>G	c.(10414-10416)Acc>Gcc	p.T3472A	FAT4_ENST00000335110.5_Missense_Mutation_p.T1770A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3472	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATCGAGAAACCCTTCCCAT	0.433000													7	62					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158457348	158457348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:158457348G>A	ENST00000409339.3	-	14	1687	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	NCAPG2_ENST00000409423.1_Missense_Mutation_p.S525F|NCAPG2_ENST00000275830.10_Missense_Mutation_p.S317F|NCAPG2_ENST00000449727.2_Missense_Mutation_p.S525F|NCAPG2_ENST00000541468.1_Missense_Mutation_p.S26F|NCAPG2_ENST00000356309.3_Missense_Mutation_p.S525F			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	525					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCAGGAAAGAATTAAAGAT	0.547000													9	162					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454500	84454500	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:84454500G>A	ENST00000377084.2	-	1	2028	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	381						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TATCTCGTAGGAAAAGCTCCT	0.468000													13	112					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16914225	16914225	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16914225G>A	ENST00000430580.2	-	10	1448	c.561C>T	c.(559-561)gcC>gcT	p.A187A		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	187	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTTACCTGGGGGCAGATGATT	0.438000													32	760					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670558	186670558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186670558G>A	ENST00000343098.5	+	17	16792	c.16792G>A	c.(16792-16794)Ggg>Agg	p.G5598R	FSIP2_ENST00000424728.1_Missense_Mutation_p.G5509R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCTAACATCAGGGTTGGCTAC	0.348000													4	41					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176164	57176164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57176164C>T	ENST00000537055.2	-	2	634	c.403G>A	c.(403-405)Gag>Aag	p.E135K		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						AATGGCTTCTCCCCGGTGTGG	0.632000													19	112					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102962307	102962307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102962307C>A	ENST00000372617.4	-	9	1639	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	407						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTCTCCTTCCCTTAGAAGA	0.527000													14	34					1.01871e-10	1.0315e-10	1	1	0
MCTP2	55784	broad.mit.edu	37	15	94913385	94913385	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:94913385G>T	ENST00000357742.4	+	11	1558	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	MCTP2_ENST00000331706.4_Missense_Mutation_p.D108Y|MCTP2_ENST00000557742.1_Missense_Mutation_p.D108Y|MCTP2_ENST00000451018.3_Missense_Mutation_p.D520Y	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	520	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAGGCAGCAGATCTCTTAGC	0.383000													3	31					0.014758	0.014811	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48750426	48750426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48750426C>T	ENST00000285238.8	+	18	2416	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	779	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GACCCACTGTCCGCGGTGGAC	0.607000													16	116					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555169	44555169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44555169G>A	ENST00000330682.2	-	1	1280	c.1045C>T	c.(1045-1047)Ccg>Tcg	p.P349S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	349	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AGGGCGTCCGGATTGTTCCTA	0.637000													9	394					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576111	11576111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11576111G>A	ENST00000294484.6	+	6	1780	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E548K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	548	SSD.				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)		CACCCACCTGGAAGACCCACA	0.592000													11	82					0	0	1	0	0
SMDT1	91689	broad.mit.edu	37	22	42477982	42477982	+	Silent	SNP	C	C	T	rs143702734	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:42477982C>T	ENST00000331479.3	+	2	314	c.240C>T	c.(238-240)gtC>gtT	p.V80V	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		TTCTCTATGTCGGGACACTCA	0.488000													6	171					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356242	10356242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10356242C>T	ENST00000255381.2	-	25	3229	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1040					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCCAGAGATCCTTCAAGCTA	0.353000													7	75					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790321	4790321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4790321G>A	ENST00000380383.1	-	1	847	c.848C>T	c.(847-849)tCa>tTa	p.S283L	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.S276L|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	276						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCCATCACTGAATGGACTAC	0.498000													9	92					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98192651	98192651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98192651G>A	ENST00000357947.3	-	4	658	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	TLL2_ENST00000469598.1_Intron	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	145					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGACCCGGGGAGAGAAGGTC	0.552000													4	63					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926996	72926996	+	Silent	SNP	C	C	T	rs142921758		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72926996C>T	ENST00000331427.4	+	6	1358	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	OTOP2_ENST00000580223.1_Silent_p.I422I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	422						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTTATCATCGAGAGCCTTC	0.622000													8	87					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176372	57176372	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57176372C>T	ENST00000537055.2	-	2	426	c.195G>A	c.(193-195)tcG>tcA	p.S65S		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						CAGCAGGGCTCGATATGGTTC	0.637000													4	47					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294741	77294741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77294741G>A	ENST00000393774.3	+	2	320	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.E23K|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E49K	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	66										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAGAATTCGGAAACAGACCT	0.522000													14	113					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9784840	9784840	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9784840C>T	ENST00000383829.2	+	7	2618	c.2214C>T	c.(2212-2214)gcC>gcT	p.A738A	BRPF1_ENST00000302054.3_Silent_p.A732A|BRPF1_ENST00000424362.1_Silent_p.A732A|BRPF1_ENST00000457855.1_Silent_p.A732A|BRPF1_ENST00000433861.2_Silent_p.A732A	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	732	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCCGCCAGGCCCGGCGCCAGG	0.587000													6	65					0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74177718	74177718	+	Silent	SNP	C	C	T	rs139533561		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74177718C>T	ENST00000264093.4	+	4	535	c.450C>T	c.(448-450)atC>atT	p.I150I	DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Silent_p.I128I	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	150					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CCAGGTATATCTTTGCAAAGA	0.463000													18	282					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141796195	141796195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141796195G>A	ENST00000475668.2	+	65	7726	c.7672G>A	c.(7672-7674)Gtc>Atc	p.V2558I	MGAM_ENST00000549489.2_Missense_Mutation_p.V1662I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1662					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCCTTCCTGGTCAGCCCTGT	0.582000													25	69					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64675564	64675564	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64675564G>C	ENST00000357395.3	+	102	18589	c.7445G>C	c.(7444-7446)tGt>tCt	p.C2482S	SYNE2_ENST00000358025.3_Missense_Mutation_p.C6097S|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.C6097S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.C2482S|SYNE2_ENST00000555002.1_Missense_Mutation_p.C2731S|SYNE2_ENST00000554584.1_Missense_Mutation_p.C6059S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6097					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCGATGCCTGTGCAAATGAG	0.537000													3	49					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150030	20150030	+	Silent	SNP	C	C	T	rs150673228	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20150030C>T	ENST00000245957.5	+	13	1387	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	C20orf26_ENST00000451767.2_Silent_p.F437F|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.F437F|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	437										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCCAGAACTTCGTGAAAATGG	0.488000													5	87					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171295697	171295697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:171295697G>A	ENST00000296933.6	-	12	1902	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	FBXW11_ENST00000425623.2_Missense_Mutation_p.P492L|FBXW11_ENST00000393802.2_Missense_Mutation_p.P490L|FBXW11_ENST00000265094.5_Missense_Mutation_p.P524L	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	524					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGGCACTGGGAGGCACATT	0.458000													6	92					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929515	35929515	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:35929515G>A	ENST00000374694.1	-	1	847	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	281					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACCACAGGCCGATCCAGAAGA	0.602000													8	60					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941776	22941776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:22941776G>A	ENST00000397104.3	-	5	661	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ZNF99_ENST00000596209.1_Missense_Mutation_p.P312L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCATTTGTAGGGTTTCTCTCC	0.368000													8	61					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751407	26751407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:26751407G>A	ENST00000396641.2	+	2	836	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LRRC3B_ENST00000417744.1_Missense_Mutation_p.E82K|LRRC3B_ENST00000456208.2_Missense_Mutation_p.E82K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	82						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TATTCCCAATGAAATTTTTAA	0.408000													4	27					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681027	100681027	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100681027C>G	ENST00000306151.4	+	3	6394	c.6330C>G	c.(6328-6330)agC>agG	p.S2110R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2110	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)					TACCTCTCAGCACCACGCCGG	0.493000													21	424					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17542924	17542924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:17542924C>T	ENST00000005226.7	-	13	1053	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	USH1C_ENST00000318024.4_Missense_Mutation_p.E352K|USH1C_ENST00000527020.1_Missense_Mutation_p.E333K|USH1C_ENST00000527720.1_Missense_Mutation_p.E321K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	352					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCTCATTTTCCTCTGCTGCC	0.493000													14	218					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30318556C>T	ENST00000375377.1	-	3	622	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	174										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547000													25	326					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191701	67191701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67191701G>A	ENST00000445895.2	+	9	2596	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	CARNS1_ENST00000423745.2_Missense_Mutation_p.E705K|CARNS1_ENST00000307823.3_Missense_Mutation_p.E705K|CARNS1_ENST00000531040.1_Missense_Mutation_p.E802K			A5YM72	CRNS1_HUMAN	carnosine synthase 1	705					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TTGGATCCTGGAGCTCTATGG	0.627000													5	74					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996509	4996509	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4996509G>A	ENST00000380051.2	-	6	749	c.705C>T	c.(703-705)tgC>tgT	p.C235C	RPP40_ENST00000319533.5_Silent_p.C212C|RPP40_ENST00000464646.1_Silent_p.C175C	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	235					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCAGAGCCCGGCAGGACACCT	0.597000													12	63					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419581	123419581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:123419581C>T	ENST00000360772.3	-	19	3112	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	MYLK_ENST00000360304.3_Missense_Mutation_p.E912K|MYLK_ENST00000359169.1_Missense_Mutation_p.E912K|MYLK_ENST00000346322.5_Missense_Mutation_p.E843K|MYLK_ENST00000475616.1_Missense_Mutation_p.E912K			Q15746	MYLK_HUMAN	myosin light chain kinase	912	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTCGTCTTCCGATAGGGTC	0.582000													12	71					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24207478	24207478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24207478G>A	ENST00000265769.4	+	19	2202	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N	ADAM28_ENST00000397649.3_Missense_Mutation_p.R446K|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	698					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAAGAAAGATCAGAGGTG	0.413000													6	69					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179460024	179460024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:179460024C>T	ENST00000263966.3	+	12	1891	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	USP13_ENST00000496897.1_Missense_Mutation_p.R409C|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	474					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CGATGTTTTTCGTTTTTTGGT	0.473000													8	62					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440373	103440373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:103440373C>T	ENST00000361246.2	-	12	1909	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	541					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTCCTTCTCCTGCCGGACC	0.602000													6	102					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60407285	60407285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:60407285C>T	ENST00000400324.4	-	24	3203	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	DIAPH3_ENST00000400330.1_Missense_Mutation_p.E995K|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E925K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E949K|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E984K|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E995K|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	995	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGAAAGTCTTCCACAGACACC	0.303000													3	41					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39212969	39212969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:39212969C>T	ENST00000400482.3	-	2	605	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E6K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	6					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCATGGATTCTGTCAGCTTG	0.343000													18	275					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518660	113518660	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:113518660C>T	ENST00000284601.3	-	4	2555	c.2487G>A	c.(2485-2487)agG>agA	p.R829R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	829					glycogen metabolic process	integral to membrane				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						CATGTGTCTTCCTAGGATTGT	0.368000													4	110					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577276	9577276	+	Missense_Mutation	SNP	G	G	A	rs150203893		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9577276G>A	ENST00000301480.4	-	10	2560	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTGCAATACGAGCTGAGAAA	0.418000													5	74					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1322811	1322811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1322811G>A	ENST00000400809.3	-	11	1368	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	CCNL2_ENST00000408952.5_Missense_Mutation_p.P233S|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	455					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGCTTCTGGGGGTACTTGCAG	0.602000													9	85					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5456813	5456813	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:5456813G>A	ENST00000345221.3	-	5	2975	c.2421C>T	c.(2419-2421)acC>acT	p.T807T	NLRP1_ENST00000354411.3_Silent_p.T807T|NLRP1_ENST00000577119.1_Silent_p.T807T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.T807T|NLRP1_ENST00000269280.4_Silent_p.T807T|NLRP1_ENST00000572272.1_Silent_p.T807T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	807					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCAGGTTTCTGGTGACCTTGA	0.547000													4	54					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73521639	73521639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:73521639G>A	ENST00000394957.3	-	2	285	c.227C>T	c.(226-228)tCg>tTg	p.S76L	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	76	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCGCCCCTCGAGCTGCGGTA	0.642000													7	68					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23808758	23808758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:23808758G>A	ENST00000218867.3	+	3	328	c.204G>A	c.(202-204)atG>atA	p.M68I	SGCG_ENST00000537476.1_Missense_Mutation_p.M68I|SGCG_ENST00000545013.1_Missense_Mutation_p.M68I	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	68					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGGCAGGAATGGGCCACTTGT	0.353000													6	71					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043916	74043916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74043916C>T	ENST00000409561.1	+	3	2687	c.2566C>T	c.(2566-2568)Cca>Tca	p.P856S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	856										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAACCCCGTCCATGGAGGAA	0.537000													7	83					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013074	142013074	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142013074C>T	ENST00000390357.3	+	0	68																											TTCTCTGTCTCCTGGGAGCAG	0.582000													12	81					0	0	1	0	0
NT5C3B	115024	broad.mit.edu	37	17	39985089	39985089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39985089G>A	ENST00000269534.8	-	7	597	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	NT5C3B_ENST00000521789.1_Missense_Mutation_p.H141Y|NT5C3B_ENST00000435506.2_Missense_Mutation_p.H174Y	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		ATGTTGGGGTGGAACACTTTC	0.463000													8	192					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593257	47593257	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:47593257T>C	ENST00000273859.3	+	23	4409	c.4140T>C	c.(4138-4140)tcT>tcC	p.S1380S		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1380					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGGCCCTTCTGCTGTATTTG	0.448000													3	82					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935272	28935272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28935272G>A	ENST00000257192.4	+	15	3325	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	DSG1_ENST00000462981.2_Missense_Mutation_p.R397Q|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1038					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCTCGAAGTCGAATCACAAAG	0.478000													5	65					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862722	23862722	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23862722C>T	ENST00000405093.3	-	23	3004	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	MYH6_ENST00000356287.3_Silent_p.K978K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	978					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGTTAGGTTCTTCACCTGCC	0.532000													23	274					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823314	14823314	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:14823314G>A	ENST00000380881.4	-	14	2999	c.2184C>T	c.(2182-2184)aaC>aaT	p.N728N	FREM1_ENST00000422223.2_Silent_p.N727N|FREM1_ENST00000380880.3_Silent_p.N727N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	727					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCATATAGTTCACAGCAT	0.443000													26	190					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942021	6942021	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6942021C>T	ENST00000308027.6	+	3	1202	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	298						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TAGCCCTGTTCCCTGTAGCTC	0.642000													9	64					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901439	51901439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:51901439G>A	ENST00000268919.4	+	1	1201	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	349	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAGAAGCTGGACCTCAAAGT	0.448000													8	110					0	0	1	0	0
HEBP1	50865	broad.mit.edu	37	12	13128335	13128335	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:13128335G>A	ENST00000014930.4	-	4	635	c.477C>T	c.(475-477)gcC>gcT	p.A159A	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|HEBP1_ENST00000540916.1_5'UTR	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	159					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CCCGGTAGGTGGCTGTGCCCT	0.592000													9	81					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34192558	34192558	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:34192558G>A	ENST00000435224.2	-	5	1882	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	ABTB2_ENST00000298992.2_Silent_p.F300F	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	300							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGTCCTGGTTGAATTTTTCAG	0.557000													6	58					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1808281	1808281	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1808281G>A	ENST00000539485.1	-	5	689	c.456C>T	c.(454-456)aaC>aaT	p.N152N	ATP8B3_ENST00000525591.1_Silent_p.N99N|ATP8B3_ENST00000526092.1_Silent_p.N99N|ATP8B3_ENST00000310127.6_Silent_p.N152N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	152					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gctcgtacaggttcagcggca	0.602000													8	76					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999633	55999633	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55999633C>A	ENST00000313264.4	-	1	1104	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTTTCCCAAACATTTTTTTCA	0.318000													6	53					0.0293803	0.0294576	1	1	0
WT1	7490	broad.mit.edu	37	11	32414251	32414251	+	Missense_Mutation	SNP	G	G	A	rs121907910		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:32414251G>A	ENST00000332351.3	-	8	1584	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	WT1_ENST00000448076.3_Missense_Mutation_p.R434C|WT1_ENST00000530998.1_Missense_Mutation_p.R205C|WT1_ENST00000379079.2_Missense_Mutation_p.R222C	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	366					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R366C(2)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTCTGAACGAGAAAACCTT	0.443000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				5	73					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88472945	88472945	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:88472945A>T	ENST00000552810.1	-	39	5631	c.5288T>A	c.(5287-5289)aTt>aAt	p.I1763N	CEP290_ENST00000547691.2_Missense_Mutation_p.I823N|CEP290_ENST00000397838.3_Missense_Mutation_p.I823N|CEP290_ENST00000309041.7_Missense_Mutation_p.I1765N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1763					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGCAGAAATAATACGTTCTTC	0.373000													5	22					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057081	53057081	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53057081C>T	ENST00000359798.4	+	5	1092	c.912C>T	c.(910-912)tgC>tgT	p.C304C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCCTTACATGCCATCATAGAC	0.403000													22	176					0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90974677	90974677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:90974677G>A	ENST00000336233.5	-	10	1430	c.1108C>T	c.(1108-1110)Ccg>Tcg	p.P370S	LIPA_ENST00000371837.1_Missense_Mutation_p.P314S|LIPA_ENST00000456827.1_Missense_Mutation_p.P370S			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	370					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TCCCATTCCGGAATGCTCTCA	0.463000													7	66					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45931683	45931683	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:45931683G>C	ENST00000241041.3	-	11	1015	c.998C>G	c.(997-999)aCa>aGa	p.T333R		NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	0	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CCAGGGCTGTGTGTGGGGCCT	0.672000													8	79					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28412933	28412933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28412933G>A	ENST00000261609.7	-	68	10562	c.10454C>T	c.(10453-10455)aCt>aTt	p.T3485I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3485					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCCGACGGAGTCACTGCAGA	0.527000													14	74					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918088	65918088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65918088C>T	ENST00000261892.6	+	2	1957	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	SLC24A1_ENST00000399033.4_Missense_Mutation_p.P557L|SLC24A1_ENST00000537259.1_Missense_Mutation_p.P557L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.P557L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.P557L|SLC24A1_ENST00000339868.6_Missense_Mutation_p.P557L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	557					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTGGTGGCCCTTATTCCGT	0.522000													14	95					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460720	142460720	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142460720G>A	ENST00000486171.1	+	6	652	c.633_splice	c.e6-1	p.G212_splice	PRSS1_ENST00000311737.7_Splice_Site_p.G198_splice			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	198	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)			TCCCCCCAGGGTGATTCTGGT	0.527000													32	94					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644954	169644954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169644954C>T	ENST00000428432.2	+	6	1293	c.904C>T	c.(904-906)Cga>Tga	p.R302*	SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R302*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	302										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCAGTTCCTCGACCATCTCT	0.502000													10	101					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46956741	46956741	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:46956741G>A	ENST00000269445.6	-	2	481	c.24C>T	c.(22-24)atC>atT	p.I8I	DYM_ENST00000442713.2_Silent_p.I8I|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	8						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GAAGATCGCCGATTCTGCTGC	0.363000													5	80					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393509	145393509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:145393509C>T	ENST00000511217.1	+	4	996	c.944C>T	c.(943-945)cCt>cTt	p.P315L	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P315L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	315							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCATTCTCCTTCAGGGCGC	0.577000													10	118					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921491	12921491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12921491G>A	ENST00000240189.2	+	4	1369	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	428										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCAATTGGGAGATCTTCAC	0.567000													17	182					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626362	80626362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:80626362C>T	ENST00000369816.4	-	6	1208	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	303					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CTGCTTTTTTCCATTTTCTAT	0.343000													5	45					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57144329	57144329	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:57144329G>A	ENST00000296318.7	-	4	409	c.321C>T	c.(319-321)ttC>ttT	p.F107F	IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR|IL17RD_ENST00000427856.2_Silent_p.F83F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	107						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ATCCTTTCAGGAATTCGATGC	0.423000													3	12					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70847596	70847596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70847596G>A	ENST00000322773.4	+	19	1505	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G90E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	468	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACTACCAGGATTTCCAGGG	0.388000													7	106					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124358978	124358978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124358978G>A	ENST00000287394.5	-	17	2332	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	ATAD2_ENST00000521903.1_Missense_Mutation_p.P60L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTAGCAGAGGACAAGAAAT	0.323000													15	147					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582291	247582291	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247582291G>A	ENST00000366497.2	+	2	975	c.195G>A	c.(193-195)gaG>gaA	p.E65E	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.E65E|NLRP3_ENST00000366496.2_Silent_p.E65E|NLRP3_ENST00000391827.2_Silent_p.E65E|NLRP3_ENST00000336119.3_Silent_p.E65E|NLRP3_ENST00000348069.2_Silent_p.E65E	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	65	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGGGAGGAGAAGGCGTGGG	0.562000													5	50					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68856025	68856025	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:68856025C>T	ENST00000261769.5	+	12	2024	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V550V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	611	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGCCTCAGGTCATAAACATCA	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				7	111					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22398151	22398151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22398151C>T	ENST00000263160.3	+	11	1783	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	449					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATGGGCATTTCGAATGGTGTT	0.383000													11	78					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119985	55119985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55119985C>T	ENST00000370862.3	+	3	790	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	152					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGCCTTGGATCGGTGGTATGC	0.453000													11	67					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237620018	237620018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:237620018C>T	ENST00000366574.2	+	16	1912	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F	RYR2_ENST00000360064.6_Missense_Mutation_p.S530F|RYR2_ENST00000542537.1_Missense_Mutation_p.S516F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	532					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)			ATTCTGAATTCTCTGTATGAG	0.448000													3	58					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61846506	61846506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61846506G>A	ENST00000280772.1	-	30	3868	c.3677C>T	c.(3676-3678)tCa>tTa	p.S1226L	ANK3_ENST00000355288.2_Missense_Mutation_p.S360L|ANK3_ENST00000373827.2_Missense_Mutation_p.S1220L|ANK3_ENST00000503366.1_Missense_Mutation_p.S1227L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1226					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCTTCTCCTGAGGGCGGGGG	0.463000													4	77					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507968	37507968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37507968G>A	ENST00000374660.1	+	40	3616	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1054K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1054K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1142						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTGAAAAAGGAAATTGCCAT	0.289000													3	19					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691340	49691340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49691340G>A	ENST00000296452.4	+	5	4465	c.4351G>A	c.(4351-4353)Gag>Aag	p.E1451K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1451					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)		AGCTGCTAGAGAGAAGCCCTT	0.597000													15	120					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118460575	118460575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:118460575G>A	ENST00000369209.3	-	4	424	c.320C>T	c.(319-321)cCc>cTc	p.P107L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	107							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTTCCTCTCGGGAGTCAGCAA	0.562000													10	109					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664073	196664073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196664073G>A	ENST00000312428.6	-	55	10400	c.10300C>T	c.(10300-10302)Ctc>Ttc	p.L3434F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3434	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGGAGAGAGCACGAAAATC	0.423000													6	109					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269385	28269385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:28269385C>T	ENST00000405948.2	+	7	2174	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	PGBD1_ENST00000259883.3_Missense_Mutation_p.P585L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	585					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGTTTGAACCCTATCAAGAA	0.398000													10	69					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181208	6181208	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:6181208C>T	ENST00000262450.3	-	33	4968	c.4869G>A	c.(4867-4869)gaG>gaA	p.E1623E	CHD5_ENST00000378021.1_Silent_p.E480E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1623					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCCGTCTCCTCTGGCCGCT	0.667000													6	32					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27353428	27353428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27353428C>T	ENST00000316470.4	+	9	1148	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	345						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCAACACTCCCCCTACGTT	0.627000													38	206					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470552	111470552	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:111470552T>G	ENST00000265162.5	+	15	2544	c.2202T>G	c.(2200-2202)aaT>aaG	p.N734K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	734					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGGGATGGAATGATGCTGGAG	0.308000													4	56					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028353	142028353	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142028353C>T	ENST00000390353.2	+	0	144																											CCCCAAAATTCCAGGTCCTGA	0.512000													5	108					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772077	109772077	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:109772077T>C	ENST00000369923.4	+	4	341	c.330T>C	c.(328-330)atT>atC	p.I110I	SARS_ENST00000234677.2_Silent_p.I110I			P49591	SYSC_HUMAN	seryl-tRNA synthetase	110					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GACTCCTCATTGATGAAGCCA	0.507000													29	243					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431605	38431605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:38431605G>A	ENST00000356264.2	-	19	1837	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.P499L|AMPH_ENST00000325590.5_Missense_Mutation_p.P499L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	541					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GACCACCGAAGGAATGACCTT	0.572000													6	70					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21226084	21226084	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21226084C>T	ENST00000233242.1	-	29	12337	c.12210G>A	c.(12208-12210)ctG>ctA	p.L4070L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4070					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTTGTCTTTCAGAGAGGTTA	0.478000													7	152					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687429	130687429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:130687429C>T	ENST00000388747.4	-	9	918	c.874G>A	c.(874-876)Gat>Aat	p.D292N	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.D89N|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCCCTCTCATCCTCGTGGAGA	0.602000													9	109					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53240001	53240001	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53240001A>T	ENST00000359499.4	-	4	417	c.406T>A	c.(406-408)Ttg>Atg	p.L136M	KRT78_ENST00000304620.4_Missense_Mutation_p.L246M			Q8N1N4	K2C78_HUMAN	keratin 78	246	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AGATGCTTCAAGAAGTAGAGG	0.547000													4	64					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61919967	61919967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:61919967C>T	ENST00000332981.5	+	7	1241	c.856C>T	c.(856-858)Cga>Tga	p.R286*	PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R125*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	286					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGTGCATATTCGATGTCAAGC	0.448000													4	90					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818679	101818679	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:101818679G>A	ENST00000375001.3	+	35	3753	c.3330G>A	c.(3328-3330)ctG>ctA	p.L1110L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1110	Nonhelical region 9 (NC9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGCTATCCTGGGAGCAGGTT	0.622000													3	40					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002610	122002610	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:122002610C>T	ENST00000498619.1	+	7	2277	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	CASR_ENST00000296154.5_Silent_p.I603I|CASR_ENST00000490131.1_Silent_p.I603I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	603					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAAGGAGATCGAGTTTCTGT	0.517000													6	78					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35606211	35606211	+	Missense_Mutation	SNP	G	G	A	rs144314548		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:35606211G>A	ENST00000287272.2	+	11	1746	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	UNC5D_ENST00000420357.1_Missense_Mutation_p.E578K|UNC5D_ENST00000449677.1_Missense_Mutation_p.E221K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E650K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E645K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E640K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	645	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGGCAAATGGGAGGTGAGACC	0.438000													8	68					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2833939	2833939	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2833939G>C	ENST00000380739.5	-	7	1245	c.1043C>G	c.(1042-1044)cCc>cGc	p.P348R	SERPINB1_ENST00000537185.1_Missense_Mutation_p.P197R			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	348					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		ATTTTCTTCGGGCATCAACAT	0.448000													3	36					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013366	142013366	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142013366C>T	ENST00000390357.3	+	0	250																											GAGAAACTCTCTATAAATGAA	0.478000													7	134					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074907	9074907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9074907C>T	ENST00000397910.4	-	3	12742	c.12539G>A	c.(12538-12540)gGg>gAg	p.G4180E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4182	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						GGGACTGTGCCCTTGTGATGT	0.522000													7	46					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18950914	18950914	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:18950914G>A	ENST00000380534.4	-	2	339	c.60C>T	c.(58-60)ctC>ctT	p.L20L	FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Silent_p.L20L	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	20										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTTGGTAGGGAGATGTGGAC	0.428000													11	63					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873957	24873957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:24873957G>A	ENST00000396432.2	-	26	5747	c.5261C>T	c.(5260-5262)tCc>tTc	p.S1754F		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1753	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTTTTTCGGATTCGCCTCT	0.438000													8	93					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399600	40399600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:40399600G>A	ENST00000338305.6	-	2	1795	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	418	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGGCTTTTGGGAGGCTCTCC	0.652000													6	101					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815657	61815657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61815657C>T	ENST00000280772.1	-	42	13015	c.12824G>A	c.(12823-12825)gGa>gAa	p.G4275E	ANK3_ENST00000355288.2_Missense_Mutation_p.G899E|ANK3_ENST00000373827.2_Missense_Mutation_p.G1759E|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Missense_Mutation_p.G1766E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4275					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTCTGTTTTCCTACATCATT	0.388000													12	139					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363921	22363921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:22363921C>T	ENST00000397121.2	-	3	915	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCACATTCTTCACATTTGTAG	0.363000													5	76					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1559773	1559773	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1559773G>A	ENST00000572621.1	-	35	5971	c.5706C>T	c.(5704-5706)ttC>ttT	p.F1902F	PRPF8_ENST00000304992.6_Silent_p.F1902F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1902	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.F1902F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAGATCCCCGAATTTTTCCA	0.478000													10	110					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614509	135614509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:135614509G>A	ENST00000520727.1	-	7	1716	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	ZFAT_ENST00000429442.2_Nonsense_Mutation_p.Q473*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.Q423*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.Q485*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.Q473*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.Q473*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGGCCTCCTGGGCAGCCCCG	0.602000													6	44					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798166	55798166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55798166G>A	ENST00000313555.1	+	1	272	c.272G>A	c.(271-273)aGc>aAc	p.S91N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCCAGGAAAAGCATCTCTCCT	0.423000													6	44					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84558914	84558914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84558914C>T	ENST00000286744.5	+	11	1350	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P376S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	376						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGTAGTTCCTGACCATTA	0.408000													16	113					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45658282	45658282	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:45658282C>G	ENST00000396659.3	-	6	1279	c.940G>C	c.(940-942)Ggt>Cgt	p.G314R	GATM_ENST00000558336.1_Missense_Mutation_p.G314R	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	314					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AGCACAATACCAGGTCCAATG	0.433000													11	90					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797502	52797502	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52797502C>T	ENST00000257974.2	-	2	680	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	201	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		tgtagccctccagtgcAGCCT	0.577000													15	126					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105405031C>T	ENST00000351513.2	-	8	1556	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000													28	218					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81399011	81399011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81399011G>A	ENST00000248272.3	+	9	1592	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	477					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GGGGGAGTCCGAAGTCGTGAG	0.498000													21	203					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426289	132426289	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:132426289C>T	ENST00000542167.2	+	4	1591	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	PUS1_ENST00000440818.2_Silent_p.L305L|PUS1_ENST00000376649.3_Silent_p.L333L|PUS1_ENST00000443358.2_Silent_p.L305L|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	333						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CGGACTCGGCCTGGTCCTGGA	0.642000													6	55					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867198	6867198	+	Silent	SNP	C	C	T	rs139785865	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6867198C>T	ENST00000299454.4	+	1	316	c.285C>T	c.(283-285)ttC>ttT	p.F95F	OR10A5_ENST00000379831.2_Silent_p.F99F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATCTCCTTCCTTGGCTGTG	0.498000													3	52					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15526477	15526477	+	Translation_Start_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:15526477A>G	ENST00000357607.2	+	2	189	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BMX_ENST00000348343.6_Start_Codon_SNP_p.M1V|BMX_ENST00000463891.1_Intron|BMX_ENST00000342014.6_Start_Codon_SNP_p.M1V			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	1					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGATGATAATATGGATACAAA	0.289000													2	12					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228169719	228169719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228169719G>A	ENST00000396578.3	+	47	4334	c.4172G>A	c.(4171-4173)gGt>gAt	p.G1391D	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1391	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGCCAAGAGGTAAGCCAGGC	0.478000													4	23					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965396	1965396	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:1965396C>T	ENST00000382722.5	-	21	2371		c.e21-1		CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000539048.2_Splice_Site|CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000585732.1_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCATGCAGGCCTGAAACCAGA	0.507000													23	268					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754588	141754588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141754588C>T	ENST00000475668.2	+	27	3248	c.3194C>T	c.(3193-3195)cCa>cTa	p.P1065L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1065L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1065					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGAAGTTCCAGTCCCTCTG	0.443000													19	205					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128880613	128880613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:128880613C>T	ENST00000371106.3	+	6	638	c.446C>T	c.(445-447)cCt>cTt	p.P149L	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.P149L	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	149					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ACCGAGATTCCTGCTGGAGGG	0.537000													29	121					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572419	56572419	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:56572419G>A	ENST00000323456.5	-	16	3208	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	MTMR4_ENST00000579925.1_Silent_p.I971I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1028						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCCTGCTTCGATTTGCCGTA	0.557000													13	143					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120307	142120307	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142120307G>A	ENST00000390377.1	-	0	14																											CCCAGCATAGGAGACTGGTAC	0.498000													13	152					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112695	81112695	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81112695G>A	ENST00000228644.3	+	3	785	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	211					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAACATAGTGGACCGGATCA	0.473000													10	110					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515755	51515755	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:51515755C>T	ENST00000328188.1	+	1	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATACAGATCCTCTTCATCT	0.468000													6	85					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351858	98351858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98351858C>T	ENST00000264972.5	+	10	1443	c.1228C>T	c.(1228-1230)Ctc>Ttc	p.L410F	ZAP70_ENST00000451498.2_Missense_Mutation_p.L103F|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.L284F	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	410	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCCGAGGCCCTCATGCTGGT	0.667000													10	217					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005189	74005189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:74005189C>T	ENST00000476977.1	+	24	4125	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P827S|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P812S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P844S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	827						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGTGCTGGTCCCTTATAAACT	0.597000													4	73					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125110043	125110043	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:125110043C>G	ENST00000522917.1	+	37	5008	c.4802C>G	c.(4801-4803)aCc>aGc	p.T1601S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T1601S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1601	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGAGAGTGACCATCTGGAAC	0.413000													3	87					0	0	1	0	0
ISG20	3669	broad.mit.edu	37	15	89198721	89198721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:89198721C>T	ENST00000306072.5	+	4	863	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ISG20_ENST00000560741.1_Nonsense_Mutation_p.R169*|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	169					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CCAGAGAATCCGAGCCCGCCG	0.592000													5	88					0	0	1	0	0
BIN3	55909	broad.mit.edu	37	8	22481492	22481492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:22481492G>A	ENST00000276416.6	-	8	619	c.551C>T	c.(550-552)cCg>cTg	p.P184L	BIN3_ENST00000519513.1_Missense_Mutation_p.P130L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.P136L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	184	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GTAGAAGCGCGGCATCTCCTC	0.617000													3	23					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67390918	67390918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:67390918C>T	ENST00000478722.1	+	8	1858	c.737C>T	c.(736-738)cCa>cTa	p.P246L	GPHN_ENST00000459628.1_Missense_Mutation_p.P228L|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000315266.5_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	243	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TAGAAGCATCCATTCTACACC	0.388000			T	MLL	AL								3	34					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753619	10753619	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10753619C>T	ENST00000586078.1	+	22	2170	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	SLC44A2_ENST00000407327.4_Intron|SLC44A2_ENST00000335757.5_Intron	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	687					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GACCCTACTTCATGTCGCCCG	0.647000													3	26					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27631507	27631507	+	Silent	SNP	C	C	T	rs143241417		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:27631507C>T	ENST00000319394.3	+	15	2194	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	WDTC1_ENST00000361771.3_Silent_p.I552I	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	553							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTCAGTATATCGTCAGTGGCT	0.587000													4	36					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23857013	23857013	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23857013G>A	ENST00000405093.3	-	31	4549	c.4479C>T	c.(4477-4479)tcC>tcT	p.S1493S	MYH6_ENST00000356287.3_Silent_p.S1493S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1493					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGCTCCAGGGACTCCTCGT	0.582000													12	180					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31692634	31692634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31692634G>A	ENST00000375810.4	+	5	693	c.653G>A	c.(652-654)gGg>gAg	p.G218E	C6orf25_ENST00000480039.1_Missense_Mutation_p.G212R|C6orf25_ENST00000375805.2_Intron|C6orf25_ENST00000375809.3_Intron			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	155						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						AAGGGCATGGGGATGGGAAGG	0.537000													7	51					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46755771	46755771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46755771C>T	ENST00000460241.1	-	9	2361	c.691G>A	c.(691-693)Gac>Aac	p.D231N	PRSS50_ENST00000315170.7_Missense_Mutation_p.D231N			Q9UI38	TSP50_HUMAN	protease, serine, 50	231	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AACACATAGTCCGTGCCAGGC	0.607000													5	112					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154508514	154508514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154508514G>A	ENST00000369449.2	-	5	724	c.506C>T	c.(505-507)tCc>tTc	p.S169F	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	169	C-terminal.|Foot loop.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGTCTTCTGGAAACTGGGGG	0.433000													7	31					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101574973	101574973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:101574973G>A	ENST00000310954.6	-	12	2282	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	666					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACTAGCATATGGGCCATCTTG	0.323000													3	28					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217629	26217629	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:26217629T>C	ENST00000405154.2	+	3	501	c.302T>C	c.(301-303)tTa>tCa	p.L101S	RASSF8_ENST00000282884.9_Missense_Mutation_p.L101S|RASSF8_ENST00000381352.3_Missense_Mutation_p.L101S|RASSF8_ENST00000542865.1_Missense_Mutation_p.L101S|RASSF8_ENST00000541490.1_Missense_Mutation_p.L101S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	101					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					GAAAGAACTTTATACAGGCAG	0.478000													11	99					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188446	37188446	+	RNA	SNP	G	G	A	rs35288784		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37188446G>A	ENST00000425901.2	+	0	2288					NR_033753.2																						AAACCTGACTGAAGTCACAGG	0.478000													7	147					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113114708	113114708	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:113114708C>T	ENST00000393845.2	-	15	1846		c.e15-1		WDR52_ENST00000295868.2_Splice_Site|WDR52_ENST00000475568.1_Splice_Site	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52											breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GATCTTTACTCTAAGGAAAAA	0.343000													3	32					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535103	88535103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:88535103C>T	ENST00000399271.1	+	5	1409	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	DSPP_ENST00000282478.7_Missense_Mutation_p.S430L|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	430					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGCCAAAAATCAGAACCAGGA	0.408000													8	45					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963870	123963870	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:123963870T>C	ENST00000314393.4	+	3	955	c.120T>C	c.(118-120)ccT>ccC	p.P40P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	40						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CACCACAGCCTGACGTGGCCA	0.483000													4	38					0	0	1	0	0
PBOV1	59351	broad.mit.edu	37	6	138539186	138539186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:138539186G>A	ENST00000527246.2	-	1	441	c.347C>T	c.(346-348)aCc>aTc	p.T116I	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	116						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		CAGACCTAGGGTCTGAGTTAA	0.398000													7	67					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828636	59828636	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59828636G>A	ENST00000278865.3	+	2	76	c.3G>A	c.(1-3)atG>atA	p.M1I	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Start_Codon_SNP_p.M1I|MS4A3_ENST00000358152.2_Start_Codon_SNP_p.M1I|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	1						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAACCCCAATGGCCTCCCACG	0.483000													6	55					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95849050	95849050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:95849050G>A	ENST00000371375.1	+	1	199	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.G67S|PLCE1_ENST00000371380.2_Intron|RP11-429H9.4_ENST00000438899.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGAAGGTTGGTTGGCTCTT	0.527000													14	136					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135491	85135491	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:85135491A>G	ENST00000437941.2	-	3	570	c.218T>C	c.(217-219)cTa>cCa	p.L73P	SSX2IP_ENST00000370612.4_Missense_Mutation_p.L100P|SSX2IP_ENST00000342203.3_Missense_Mutation_p.L100P|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.L73P	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	100					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATACAATTTAGTACAGCTAC	0.378000													13	56					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176709573	176709573	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:176709573C>T	ENST00000439151.2	+	19	6045	c.6000C>T	c.(5998-6000)acC>acT	p.T2000T	NSD1_ENST00000361032.4_Silent_p.T1897T|NSD1_ENST00000347982.4_Silent_p.T1731T|NSD1_ENST00000354179.4_Silent_p.T1731T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2000	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGCTCACCCTAGACAAAG	0.383000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	108					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136406	103136406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103136406C>T	ENST00000295269.4	+	9	2267	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	604					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTACCAAGTTCGGCAAAGGGT	0.463000													3	56					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38936698	38936698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38936698C>T	ENST00000301656.3	-	3	578	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGCTAGCTCGTTTTCAAAC	0.453000													3	34					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49973716	49973716	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49973716G>C	ENST00000293350.4	+	17	2564	c.2401G>C	c.(2401-2403)Ggg>Cgg	p.G801R	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G636R|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G750R|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G638R|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	801							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCTGCCTATGGGGGACTGATG	0.672000													3	10					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422880	42422880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:42422880G>A	ENST00000328823.9	+	6	656	c.625G>A	c.(625-627)Gga>Aga	p.G209R	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G135R	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	209	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCGCCTGTGGGATACAGAGC	0.622000													66	219					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776635	13776635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13776635G>A	ENST00000265104.4	-	55	9390	c.9286C>T	c.(9286-9288)Cga>Tga	p.R3096*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3096	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCTGTTTCGAAATTTCTCC	0.483000									Kartagener syndrome				6	59					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026564	153026564	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153026564C>T	ENST00000285900.5	+	3	640	c.297C>T	c.(295-297)tcC>tcT	p.S99S	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.S109S|GRIA1_ENST00000448073.4_Silent_p.S109S|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.S30S|GRIA1_ENST00000340592.5_Silent_p.S99S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	99					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCTGACCTCCTTTTGTGGGG	0.493000													5	80					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743637	38743637	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38743637T>C	ENST00000359357.3	+	11	1475	c.1221T>C	c.(1219-1221)gtT>gtC	p.V407V	DNAH8_ENST00000441566.1_Silent_p.V407V|DNAH8_ENST00000449981.2_Silent_p.V624V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCAAGGGGTTAAGAAAAAGC	0.303000													8	89					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870992	207870992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:207870992G>A	ENST00000508064.2	+	6	1067	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	336	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACCCCAGGGAGACTGGAGC	0.517000													6	159					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027037	55027037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:55027037C>T	ENST00000371336.3	+	5	1006	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P269S	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	269					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGAATCAAGGCCCCACGCTCT	0.512000													4	78					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631927	101631927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:101631927G>A	ENST00000310954.6	-	1	326	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	14					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGGCTGGAGGGGACAAAAGCC	0.577000													5	35					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43342097	43342097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43342097G>A	ENST00000380486.3	-	3	717	c.476C>T	c.(475-477)tCc>tTc	p.S159F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S4F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	159						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ATGGAAAGGGGAGAGCCGCAT	0.537000													9	55					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190014	59190014	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59190014G>C	ENST00000302040.4	-	1	435	c.413C>G	c.(412-414)tCc>tGc	p.S138C		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AAGTGTATGGGATATGAGGAC	0.468000													5	40					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48333184	48333184	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:48333184G>A	ENST00000428869.2	-	5	394	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	MRO_ENST00000587291.1_Intron|MRO_ENST00000256425.2_Silent_p.L46L|MRO_ENST00000398439.3_Silent_p.L46L|MRO_ENST00000431965.2_Silent_p.L60L|MRO_ENST00000436348.2_Silent_p.L60L|MRO_ENST00000588444.1_Silent_p.L46L			Q9BYG7	MSTRO_HUMAN	maestro	46						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ACATTCTTCAGAGGCTCCCGC	0.478000													12	103					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96019413	96019413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:96019413C>T	ENST00000297954.4	+	10	2374	c.2374C>T	c.(2374-2376)Cct>Tct	p.P792S	WNK2_ENST00000395475.2_Missense_Mutation_p.P726S|WNK2_ENST00000395477.2_Missense_Mutation_p.P792S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P404S|WNK2_ENST00000427277.2_Missense_Mutation_p.P404S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	792					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCTCAAGTCCCTCCGCAGGT	0.667000													8	35					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240999	149240999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:149240999G>A	ENST00000407073.1	+	10	3836	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	MBD5_ENST00000404807.1_Missense_Mutation_p.G947R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	947						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCTTCAGCAGGAGAAGGCAA	0.468000													5	54					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49339953	49339953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49339953G>A	ENST00000351842.4	-	9	1018	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.P384L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	384					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGAAAATTGAGGAGCAAAACG	0.393000													5	39					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170488369	170488369	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:170488369C>T	ENST00000260970.3	+	11	1075	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PPIG_ENST00000448752.2_Silent_p.F285F|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Silent_p.F285F|PPIG_ENST00000409714.3_Silent_p.F270F	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	285					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAATAGATTCCTAATGAGAA	0.403000													3	47					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24329174	24329174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:24329174G>A	ENST00000407573.1	+	4	535	c.245G>A	c.(244-246)aGc>aAc	p.S82N	NPY_ENST00000405982.1_Missense_Mutation_p.S82N|NPY_ENST00000242152.2_Missense_Mutation_p.S82N			P01303	NPY_HUMAN	neuropeptide Y	82					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATGAGAGAAAGCACAGAAAAT	0.458000													10	90					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140432981	140432981	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:140432981A>T	ENST00000274031.3	-	8	1573	c.937T>A	c.(937-939)Ttt>Att	p.F313I	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	313	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATGGGCCCAAAACGGGGGTGG	0.577000													4	77					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122047607	122047607	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:122047607G>A	ENST00000334010.7	-	18	3148	c.2727C>T	c.(2725-2727)ttC>ttT	p.F909F	CADPS2_ENST00000412584.2_Silent_p.F905F|CADPS2_ENST00000313070.7_Silent_p.F905F|CADPS2_ENST00000449022.2_Silent_p.F911F|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	911	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATTTCGGAGGAAATTATTAA	0.418000													3	23					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436648	42436648	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:42436648C>T	ENST00000397272.3	-	17	2072	c.1981_splice	c.e17+1	p.D661_splice	PLA2G4F_ENST00000382396.4_Splice_Site_p.D659_splice	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	659	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGCACCCACCTTTCCAGGCC	0.617000													5	57					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206664	71206664	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:71206664G>A	ENST00000553414.1	-	6	1182	c.867C>T	c.(865-867)atC>atT	p.I289I	MAP3K9_ENST00000555993.2_Intron|MAP3K9_ENST00000554752.2_Intron|MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000554146.1_Intron			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	563	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGAAGTTATGGATGGAGCAAG	0.517000													6	34					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4303919	4303919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:4303919C>T	ENST00000337872.4	+	3	477	c.356C>T	c.(355-357)tCa>tTa	p.S119L	ZBTB49_ENST00000355834.3_Missense_Mutation_p.S119L|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TTTTTAAAATCAGCCACTGTA	0.418000													5	104					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830293	72830293	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72830293G>A	ENST00000268489.5	-	9	6960	c.6288C>T	c.(6286-6288)atC>atT	p.I2096I	ZFHX3_ENST00000397992.5_Silent_p.I1182I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2096					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGGCGAGAAGATGGGCAGCT	0.662000													11	106					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14336794	14336794	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:14336794C>T	ENST00000344204.4	+	11	2028	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	TRIO_ENST00000537187.1_Silent_p.I668I|TRIO_ENST00000509967.2_Silent_p.I619I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	668					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCGAAAGATCCTACTGGACA	0.483000													8	60					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75899009	75899009	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:75899009C>T	ENST00000322507.8	-	7	1056	c.747G>A	c.(745-747)acG>acA	p.T249T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T249T|COL12A1_ENST00000416123.2_Silent_p.T249T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	249	VWFA 1.				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						ATTTTCCATCCGTAATAATAA	0.383000													8	65					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133622737	133622737	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:133622737C>T	ENST00000253861.4	+	14	2150	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	EXOC4_ENST00000539845.1_Silent_p.L606L|EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Silent_p.L317L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	707					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCAGTGACCTCAAAGCCTTGG	0.453000													4	89					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328734	23328734	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:23328734C>T	ENST00000597761.2	+	4	1087	c.888C>T	c.(886-888)tcC>tcT	p.S296S		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						TTAACCAGTCCTCAAACCTTA	0.348000													4	56					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515026	149515026	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149515026G>A	ENST00000378016.2	+	0	11416							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCTGGACGACTGCTTCGA	0.692000													11	103					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65351727	65351727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65351727C>T	ENST00000220062.4	-	3	466	c.190G>A	c.(190-192)Gac>Aac	p.D64N	RASL12_ENST00000421977.3_Missense_Mutation_p.D45N|RASL12_ENST00000434605.2_Missense_Mutation_p.D53N	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	64					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGCTGGTGGTCCACAGTCTCC	0.527000													5	66					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36099564	36099564	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:36099564C>T	ENST00000225893.4	-	2	772	c.411G>A	c.(409-411)agG>agA	p.R137R	HNF1B_ENST00000427275.2_Silent_p.R137R|HNF1B_ENST00000560016.1_Silent_p.R137R|HNF1B_ENST00000561193.1_Silent_p.R137R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	137					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CGACCACCTCCCTCTGGGGGA	0.552000													6	53					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438559	120438559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:120438559C>T	ENST00000369400.1	-	1	559	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	134					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATACACCTCGGAGACCCCC	0.458000													8	106					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931192	184931192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:184931192G>A	ENST00000308497.4	+	3	2636	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	STOX2_ENST00000438269.1_Missense_Mutation_p.D401N	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	401					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGACTTTTGTGATCCTCTTAC	0.498000													8	29					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160128845	160128845	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160128845G>A	ENST00000368081.4	+	5	1050	c.579G>A	c.(577-579)gtG>gtA	p.V193V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	193					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TACAAGAGGTGGTGTTGGGAG	0.493000													7	69					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117021076	117021076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117021076C>A	ENST00000284629.2	-	9	996	c.934G>T	c.(934-936)Gaa>Taa	p.E312*		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	312	SAM.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTTGTAAATTCATCTTCCCTC	0.318000													5	185					0.0215528	0.0216146	1	1	0
STXBP3	6814	broad.mit.edu	37	1	109321928	109321928	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:109321928C>T	ENST00000370008.3	+	9	755	c.705C>T	c.(703-705)ctC>ctT	p.L235L	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	235	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATTCACAGCTCTTAATAATTG	0.348000													14	145					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759998	110759998	+	Silent	SNP	G	G	A	rs138030296	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110759998G>A	ENST00000368919.3	-	5	1302	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SLC22A16_ENST00000330550.4_Silent_p.V378V|SLC22A16_ENST00000439654.1_Silent_p.V412V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	412					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTCTCCTCCCGACCTTGTCCA	0.507000													10	75					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685586	47685586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47685586C>T	ENST00000371883.3	-	4	1384	c.808G>A	c.(808-810)Gga>Aga	p.G270R	TAL1_ENST00000371884.2_Missense_Mutation_p.G268R|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.G268R			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	268	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						cccccacctccacccccaccA	0.672000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								5	26					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138183326	138183326	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:138183326A>G	ENST00000389567.4	+	9	1241	c.1055A>G	c.(1054-1056)aAc>aGc	p.N352S		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	352	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATCTACAGGAACCTGAACCCC	0.562000													6	81					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125771983	125771983	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:125771983A>G	ENST00000346248.5	-	7	2003	c.1361T>C	c.(1360-1362)gTt>gCt	p.V454A	CHST15_ENST00000435907.1_Missense_Mutation_p.V454A	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	454					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ATAGAGCCCAACCTGGAGCCT	0.493000													5	53					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702772	202702772	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:202702772C>T	ENST00000367265.3	-	23	4830	c.3666G>A	c.(3664-3666)cgG>cgA	p.R1222R	KDM5B_ENST00000367264.2_Silent_p.R1258R	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1222					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTCTGACCTCCGACAATGGG	0.517000													5	35					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4407228	4407228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:4407228G>A	ENST00000251166.4	-	26	2771	c.2626C>T	c.(2626-2628)Cgg>Tgg	p.R876W	CORO7_ENST00000539968.1_Missense_Mutation_p.R656W|CORO7_ENST00000537233.2_Missense_Mutation_p.R858W|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.R791W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R876W	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GATGGGGCCCGACGAGCAGGG	0.612000													6	55					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136252	55136252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55136252C>T	ENST00000314706.3	+	1	893	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTGATAAATCCATGACTGTA	0.403000													6	179					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39085744	39085744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:39085744C>T	ENST00000297668.6	-	21	3504	c.3431G>A	c.(3430-3432)gGa>gAa	p.G1144E	CNTNAP3_ENST00000358144.2_3'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G1063E	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1144	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAAACCTTTCCCAATATGAG	0.408000													14	67					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94129654	94129654	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:94129654C>G	ENST00000243673.2	-	2	595	c.424G>C	c.(424-426)Ggc>Cgc	p.G142R	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	142						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCACATGCCCTTCCCAAAT	0.552000													7	85					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158914729	158914729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158914729C>T	ENST00000367097.3	+	10	3113	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	TULP4_ENST00000367094.2_Missense_Mutation_p.P586S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	586					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGAGTTTCCTTTTGAAGA	0.667000													7	94					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724285	23724285	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23724285C>T	ENST00000450454.2	-	6	713	c.607_splice	c.e6+1	p.D203_splice		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	203	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCTCTCTCACCGTCCGCCTTC	0.572000													4	74					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43469811	43469811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:43469811G>A	ENST00000282041.5	-	28	4938	c.4904C>T	c.(4903-4905)cCa>cTa	p.P1635L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1635					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATTAAGTGATGGTGGTTTAGC	0.378000													10	101					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887537	3887537	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:3887537A>G	ENST00000319331.3	+	2	1973	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	404	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCCGCCCGAATATAAAGGGC	0.493000													9	73					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26731734	26731734	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:26731734T>C	ENST00000381340.3	-	34	4958	c.4542A>G	c.(4540-4542)caA>caG	p.Q1514Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1514					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGAAGGCAGATTGCAGTAGCT	0.433000													5	52					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940040	36940040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36940040G>A	ENST00000454319.1	-	5	1233	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	ZNF566_ENST00000424129.2_Missense_Mutation_p.P366S|ZNF566_ENST00000392170.2_Missense_Mutation_p.P367S|ZNF566_ENST00000493391.1_Missense_Mutation_p.P262S|ZNF566_ENST00000434377.2_Missense_Mutation_p.P366S	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATTCATAGGGTTTCTCCCCA	0.393000													11	53					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65165729	65165729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:65165729C>T	ENST00000381210.3	-	8	847	c.737G>A	c.(736-738)gGa>gAa	p.G246E	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.G246E	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	246					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTGCCTGTTTCCAAATGCTGG	0.299000													11	113					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931947	55931947	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:55931947G>A	ENST00000389286.4	-	13	2264	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	739	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCCAGTGCAGGAAGATGGAAG	0.498000													14	160					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28728487	28728487	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28728487A>T	ENST00000257197.3	-	6	1007	c.746T>A	c.(745-747)tTt>tAt	p.F249Y	DSC1_ENST00000257198.5_Missense_Mutation_p.F249Y|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	249	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGGCACAGTAAAGATAGTCAC	0.353000													18	160					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12633225	12633225	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:12633225G>A	ENST00000228862.2	-	6	1378	c.747C>T	c.(745-747)tcC>tcT	p.S249S	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	249	Tyrosine-protein phosphatase.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGGCGGAGCGGGAGATCCCAG	0.448000													12	122					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185786	8185786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185786G>A	ENST00000520004.1	-	5	2770	c.2506C>T	c.(2506-2508)Ccc>Tcc	p.P836S	SGK223_ENST00000330777.4_Missense_Mutation_p.P836S			Q86YV5	SG223_HUMAN		836							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGGGCTTGGGGGAGCCTTGG	0.612000													10	178					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662886	144662886	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:144662886G>A	ENST00000532741.1	-	6	1878	c.1650C>T	c.(1648-1650)ccC>ccT	p.P550P	EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Silent_p.P91P|EEF1D_ENST00000524624.1_Silent_p.P110P|EEF1D_ENST00000395119.3_Silent_p.P134P|EEF1D_ENST00000317198.6_Silent_p.P134P|EEF1D_ENST00000423316.2_Silent_p.P500P|EEF1D_ENST00000419152.2_Silent_p.P134P|EEF1D_ENST00000526838.1_Silent_p.P115P|EEF1D_ENST00000529272.1_Silent_p.P134P|EEF1D_ENST00000442189.2_Silent_p.P500P|EEF1D_ENST00000528610.1_Silent_p.P110P			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	134					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTTGGCGCATGGGAGATACGT	0.637000													13	145					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056793	120056793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:120056793G>A	ENST00000235547.6	+	4	792	c.653G>A	c.(652-654)gGa>gAa	p.G218E	HSD3B1_ENST00000528909.1_Missense_Mutation_p.G216E|HSD3B1_ENST00000369413.3_Missense_Mutation_p.G216E	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	216					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TCAAGTGTTGGAAAGTTCTCC	0.522000													5	58					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479176	78479176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:78479176G>A	ENST00000370763.5	+	2	910	c.653G>A	c.(652-654)aGa>aAa	p.R218K	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	218					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ACTTTTCCAAGAGAAGGAGAT	0.338000													7	44					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893122	23893122	+	Silent	SNP	C	C	T	rs141191984		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23893122C>T	ENST00000355349.3	-	23	3078	c.2916G>A	c.(2914-2916)gaG>gaA	p.E972E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	972					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTACCTTGTTCTCTGTTGCGT	0.547000													13	85					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033046	52033046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52033046C>T	ENST00000346477.3	-	4	964	c.896G>A	c.(895-897)gGa>gAa	p.G299E	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G326E|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G304E|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.G315E|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G315E|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G263E	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	315	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGTGAAATCTCCTTCTTCTGC	0.602000													6	47					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402648	124402648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124402648G>A	ENST00000338354.3	+	53	7082	c.6976G>A	c.(6976-6978)Gat>Aat	p.D2326N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D2316N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2326N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D1046N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2316N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1698N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1698N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2326	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCGTGAGGGATGACACCTA	0.577000													7	123					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013022	103013022	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103013022G>A	ENST00000409599.1	+	12	1658	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	IL18R1_ENST00000233957.1_Silent_p.E434E			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	434	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CACTGATAGAGAAAAGCCGAA	0.358000													8	39					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778504	110778504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:110778504C>T	ENST00000395494.2	+	13	2284	c.1721C>T	c.(1720-1722)cCt>cTt	p.P574L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P601L|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P601L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	601					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGCTGGATCCTCCGAGAATC	0.517000													15	211					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16774457	16774457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16774457G>A	ENST00000337132.5	+	3	376	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NECAP2_ENST00000443980.2_Missense_Mutation_p.E96K|NECAP2_ENST00000457722.2_Missense_Mutation_p.E70K|NECAP2_ENST00000504551.2_Missense_Mutation_p.R62Q|NECAP2_ENST00000406746.1_Missense_Mutation_p.E96K	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	96					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		p.E96K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGCATCGAAGATGGAAA	0.552000													12	69					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602172	234602172	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:234602172T>C	ENST00000305139.6	+	1	661	c.522T>C	c.(520-522)ttT>ttC	p.F174F	UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TCAGGGGTTTTCCGTGTTCCC	0.502000													4	133					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843023	22843023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:22843023G>A	ENST00000360412.2	-	4	1476	c.701C>T	c.(700-702)cCt>cTt	p.P234L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.P234L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCTGGAAAAGGTGCTCCATT	0.368000													12	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600503	179600503	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179600503G>T	ENST00000589042.1	-	50	14894	c.14670C>A	c.(14668-14670)ttC>ttA	p.F4890L	TTN_ENST00000591111.1_Missense_Mutation_p.F4573L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F3646L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4573	Ig-like 29.						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)			ATTCTTTAATGAAATGTGGCT	0.413000													4	16					0.0215528	0.0216146	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380568	56380568	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56380568G>A	ENST00000526538.1	-	1	410	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGATGTTCTTGGACATCCTGG	0.458000													4	57					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202284011	202284011	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:202284011G>A	ENST00000367278.3	+	17	1737		c.e17+1		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6							integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCTACTCCAGGTGAGGTGGTG	0.557000													3	51					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6972453	6972453	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6972453C>T	ENST00000229268.8	+	15	1918	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Silent_p.V622V	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	622					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CACCCCTGGTCACTCCGGATG	0.582000													8	89					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199657	117199657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117199657C>T	ENST00000003084.6	+	11	1664	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	CFTR_ENST00000454343.1_Missense_Mutation_p.S450F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	511	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGGTGTTTCCTATGATGAA	0.358000									Cystic Fibrosis				5	64					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71654450	71654450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:71654450G>A	ENST00000356340.3	+	10	1159	c.623G>A	c.(622-624)gGa>gAa	p.G208E	COL13A1_ENST00000520133.1_Missense_Mutation_p.G179E|COL13A1_ENST00000398966.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398978.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G179E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G208E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G208E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G170E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G208E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G208E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G196E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G170E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G208E			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	208	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.G191E(1)|p.G208E(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGACAAAAAGGAGAAAAGGTA	0.463000													7	99					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435655	158435655	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158435655T>C	ENST00000289451.2	+	1	384	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATCCAAATGTTTTCCTTCCT	0.498000													9	135					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520098	113520098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:113520098G>A	ENST00000284601.3	-	4	1117	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	350					glycogen metabolic process	integral to membrane				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						TGCTTTATTTGGAAAATTGAC	0.373000													9	113					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32084286	32084286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32084286G>A	ENST00000375201.4	-	17	1889	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	ATF6B_ENST00000375203.3_Missense_Mutation_p.S618F			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	618					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CATCACCAGGGACATCTTGGG	0.622000													9	75					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043848	56043848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56043848G>A	ENST00000313033.2	+	1	820	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTGCTGAAGGGAGGAGAAAA	0.433000													8	124					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75157026	75157026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:75157026G>A	ENST00000372921.4	-	4	322	c.266C>T	c.(265-267)cCa>cTa	p.P89L	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	89	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TCCTTGGCCTGGAGGAACTAG	0.418000													3	21					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39823112	39823112	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:39823112C>T	ENST00000564288.1	+	45	12267	c.11490C>T	c.(11488-11490)gcC>gcT	p.A3830A	MACF1_ENST00000289893.4_Silent_p.A2270A|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.A1768A|MACF1_ENST00000361689.2_Silent_p.A1768A|MACF1_ENST00000545844.1_Silent_p.A1768A|MACF1_ENST00000372915.3_Silent_p.A3835A|MACF1_ENST00000317713.7_Silent_p.A1768A|MACF1_ENST00000567887.1_Silent_p.A3867A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3835					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCTCAGGCCTTCTTGGATC	0.502000													8	67					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711761	31711761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31711761C>T	ENST00000493662.2	+	6	552	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375750.3_Missense_Mutation_p.L166F|MSH5_ENST00000375742.3_Missense_Mutation_p.L166F|MSH5_ENST00000375755.3_Missense_Mutation_p.L166F|MSH5_ENST00000375740.3_Missense_Mutation_p.L166F|MSH5_ENST00000375703.3_Missense_Mutation_p.L166F|MSH5_ENST00000534153.4_Missense_Mutation_p.L166F																							TGAGAAAATCCTCTTCCTCTC	0.517000													31	310					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579734	82579734	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82579734G>A	ENST00000423517.2	-	6	10507	c.10170C>T	c.(10168-10170)atC>atT	p.I3390I	PCLO_ENST00000333891.8_Silent_p.I3390I|PCLO_ENST00000437081.1_Silent_p.I110I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3321					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						CAGTGCTCAGGATACCAGGTG	0.448000													3	35					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47284733	47284733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:47284733G>A	ENST00000335044.2	-	16	1874	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	KIF9_ENST00000265529.3_Missense_Mutation_p.S506F|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.S506F	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	506					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCTTGCCAAGGAGCTGGAAGA	0.542000													3	19					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10081680	10081680	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10081680T>G	ENST00000264828.3	-	53	3938	c.3853A>C	c.(3853-3855)Aag>Cag	p.K1285Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1285	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)			GGGTCTCCCTTCTCCCCTGGG	0.597000													10	129					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87041153	87041153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:87041153C>T	ENST00000370563.3	+	11	1864	c.1822C>T	c.(1822-1824)Ccc>Tcc	p.P608S	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	608						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAACAGTTTCCCCAGCCCAAT	0.398000													8	102					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474154	134474154	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:134474154G>A	ENST00000319914.5	-	8	1840	c.813C>T	c.(811-813)atC>atT	p.I271I	ST3GAL1_ENST00000522652.1_Silent_p.I271I|ST3GAL1_ENST00000399640.2_Silent_p.I271I|ST3GAL1_ENST00000521180.1_Silent_p.I271I			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	271					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TGACCGAGAGGATGCCGGTAG	0.572000													18	215					0	0	1	0	0
HYKK	123688	broad.mit.edu	37	15	78819766	78819766	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:78819766C>T	ENST00000566332.1	+	4	582	c.522C>T	c.(520-522)ttC>ttT	p.F174F	HYKK_ENST00000569878.1_Silent_p.F174F|HYKK_ENST00000563233.1_Silent_p.F174F|HYKK_ENST00000408962.2_Silent_p.F174F|HYKK_ENST00000388988.4_Silent_p.F174F					hydroxylysine kinase																		GGGAGAACTTCATCTGGAATC	0.423000													9	107					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28885851	28885851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28885851G>A	ENST00000282397.4	-	27	3762	c.3511C>T	c.(3511-3513)Cca>Tca	p.P1171S	FLT1_ENST00000543394.1_Missense_Mutation_p.P194S|FLT1_ENST00000540678.1_Missense_Mutation_p.P389S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1171					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCATTGATTGGGATGTAGTCT	0.388000													9	128					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385879	120385879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:120385879G>A	ENST00000331113.4	+	5	2478	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	505					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AAGCTGCATGGAAGTTGCAAC	0.408000													3	30					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36064363	36064363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:36064363G>A	ENST00000282507.3	-	2	285	c.184C>T	c.(184-186)Cct>Tct	p.P62S	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Intron|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	62						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATAAAAGGACCTCTTTTG	0.393000													4	58					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162804210	162804210	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:162804210C>T	ENST00000375514.5	+	17	2468	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	SLC4A10_ENST00000415876.2_Silent_p.F716F|SLC4A10_ENST00000446997.1_Silent_p.F746F|SLC4A10_ENST00000421911.1_Silent_p.F746F|SLC4A10_ENST00000272716.5_Silent_p.F716F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	746					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAGCAGTTCAAGACTAGCA	0.383000													15	110					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99700339	99700339	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99700339C>T	ENST00000429084.1	+	3	368	c.210C>T	c.(208-210)ggC>ggT	p.G70G	AP4M1_ENST00000422582.1_5'UTR|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Silent_p.G63G|AP4M1_ENST00000421755.1_Silent_p.G63G			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	63					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACACAGCGGCCTCTATTTGG	0.527000													6	113					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48617232	48617232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:48617232C>T	ENST00000328333.8	-	57	5247	c.5140G>A	c.(5140-5142)Gga>Aga	p.G1714R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1714R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1714	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCTGGCTCCAGGTCCTGTG	0.582000													19	113					0	0	1	0	0
C1orf146	388649	broad.mit.edu	37	1	92707815	92707815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:92707815G>A	ENST00000370375.3	+	3	261	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CACAAAGTTCGATATTCAGAT	0.299000													7	47					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597723	11597723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11597723G>A	ENST00000262442.3	+	22	4899	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1611N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1611	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCTCCTCCGATCTGTTAGA	0.567000													5	55					0	0	1	0	0
PEX11G	92960	broad.mit.edu	37	19	7546945	7546945	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7546945G>A	ENST00000593942.1	-	5	694	c.192C>T	c.(190-192)gcC>gcT	p.A64A	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000221480.1_Silent_p.A134A			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	134						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GCAGAGAGAGGGCCCACAGGG	0.657000													3	19					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654684	35654684	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35654684C>T	ENST00000440995.2	+	7	834	c.834C>T	c.(832-834)acC>acT	p.T278T	SPEF2_ENST00000282469.6_Silent_p.T278T|SPEF2_ENST00000356031.3_Silent_p.T278T|SPEF2_ENST00000509059.1_Silent_p.T278T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	278					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACAACCACCGATTTGTTAA	0.368000													7	56					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97043781	97043781	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:97043781G>A	ENST00000524981.3	+	2	156	c.156G>A	c.(154-156)aaG>aaA	p.K52K				Q6ZTY8	CL063_HUMAN		26										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTAAAGAAAAGGACCGAGGAG	0.338000													6	89					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158882728	158882728	+	Silent	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158882728G>T	ENST00000367097.3	+	6	2350	c.993G>T	c.(991-993)ggG>ggT	p.G331G	TULP4_ENST00000367094.2_Silent_p.G331G	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	331					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ATGTTCGTGGGGAGCACATCT	0.473000													11	101					2.80697e-09	2.83811e-09	1	1	0
BCDIN3D	144233	broad.mit.edu	37	12	50232487	50232487	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:50232487G>A	ENST00000333924.4	-	2	587	c.546C>T	c.(544-546)ttC>ttT	p.F182F	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	182	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GATGGGCCAGGAACTCCCATA	0.522000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	79					0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32687586	32687586	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:32687586T>A	ENST00000225842.3	-	3	352	c.283A>T	c.(283-285)Aga>Tga	p.R95*		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	95					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTCATTTTCTTTTTGACGGG	0.507000													5	70					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619151	64619151	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:64619151G>A	ENST00000498707.1	-	14	2514	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C	ADAMTS9_ENST00000295903.4_Silent_p.C696C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	724	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACTTACCCGGCAAAGGCCCT	0.488000													11	93					0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309704	22309704	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22309704C>T	ENST00000390433.1	+	0	88																											GGAGCAGGATCCTGGACCCTT	0.493000													4	35					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662690	5662690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:5662690G>A	ENST00000425013.2	-	17	2626	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.A858V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	801	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTGCGCGAAGGCATAGGGTGG	0.667000													12	126					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026106	16026106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:16026106G>A	ENST00000350896.3	-	4	688	c.491C>T	c.(490-492)tCc>tTc	p.S164F	MSR1_ENST00000262101.5_Missense_Mutation_p.S164F|MSR1_ENST00000355282.2_Missense_Mutation_p.S164F|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.S164F|MSR1_ENST00000445506.2_Missense_Mutation_p.S182F	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	164					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGGACTGAGGAAAACAAGGT	0.388000													11	108					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806257	26806257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:26806257G>A	ENST00000541819.2	-	9	1172	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L	GABRB3_ENST00000545868.1_Missense_Mutation_p.P216L|GABRB3_ENST00000311550.5_Missense_Mutation_p.P301L|GABRB3_ENST00000400188.3_Missense_Mutation_p.P230L|GABRB3_ENST00000299267.4_Missense_Mutation_p.P301L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	301					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTGACATAGGGGATTTTGGG	0.463000													6	73					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96272009	96272009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:96272009C>A	ENST00000344280.3	-	13	1815	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	420										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAATTAAATTCTCCAAAGCTA	0.348000													5	30					0.000157383	0.000158441	1	1	0
PPP1R1A	5502	broad.mit.edu	37	12	54971181	54971181	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:54971181C>T	ENST00000547431.1	-	6	480	c.453G>A	c.(451-453)aaG>aaA	p.K151K	PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000394277.3_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						ATCATGGCATCTTTGTTGGGT	0.522000													33	318					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90248932	90248932	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:90248932G>A	ENST00000468879.1	+	0	194																											GGACATGAGGGTGCCCGCTCA	0.567000													15	143					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37373332	37373332	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37373332C>G	ENST00000333461.5	-	3	861	c.492G>C	c.(490-492)aaG>aaC	p.K164N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	164					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CGCTCACCGTCTTGCCTGGGC	0.577000													7	70					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25747261	25747261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:25747261G>A	ENST00000294413.7	-	1	75	c.17C>T	c.(16-18)cCg>cTg	p.P6L	RHCE_ENST00000349438.4_Missense_Mutation_p.P6L|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.P6L|RHCE_ENST00000455194.1_Missense_Mutation_p.P6L|RHCE_ENST00000425135.1_Missense_Mutation_p.P6L|RHCE_ENST00000346452.4_Missense_Mutation_p.P6L|RHCE_ENST00000340849.4_Missense_Mutation_p.P6L|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000243186.6_Missense_Mutation_p.P6L	NM_020485.4	NP_065231.3	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	6						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGACCGCGGGTACTTAGA	0.572000													5	26					0	0	1	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186450	79186450	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:79186450T>C	ENST00000331268.5	+	11	1001	c.797T>C	c.(796-798)gTa>gCa	p.V266A	MORF4L1_ENST00000558502.1_Missense_Mutation_p.V139A|MORF4L1_ENST00000379535.4_Missense_Mutation_p.V252A|MORF4L1_ENST00000426013.2_Missense_Mutation_p.V227A|MORF4L1_ENST00000559345.1_Missense_Mutation_p.V139A|MORF4L1_ENST00000558746.1_Missense_Mutation_p.V200A|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	266	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TACTTCAACGTAATGTTGGGT	0.403000													15	139					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753508	73753508	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:73753508C>G	ENST00000200181.3	+	40	5528	c.5341C>G	c.(5341-5343)Ctg>Gtg	p.L1781V	ITGB4_ENST00000450894.3_Missense_Mutation_p.L1711V|ITGB4_ENST00000339591.3_Missense_Mutation_p.L1764V|ITGB4_ENST00000579662.1_Missense_Mutation_p.L1711V|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.L1764V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1781					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGCTGACCCTGGGGGCCCA	0.652000													3	18					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025680	130025680	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:130025680G>A	ENST00000011292.3	+	9	1138	c.987_splice	c.e9-1	p.D330_splice	CPA1_ENST00000484324.1_Splice_Site_p.D242_splice	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	330					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TTTTGTCCAGGATCAGCTTTC	0.567000													4	35					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6953791	6953791	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6953791C>T	ENST00000278319.5	+	3	876	c.288C>T	c.(286-288)ttC>ttT	p.F96F	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Silent_p.F96F|ZNF215_ENST00000529903.1_Silent_p.F96F	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	96	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGGAACAATTCCTGGCAATCC	0.438000													5	67					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8507350	8507350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:8507350G>A	ENST00000381196.4	-	19	2171	c.1628C>T	c.(1627-1629)aCc>aTc	p.T543I	PTPRD_ENST00000486161.1_Missense_Mutation_p.T543I|PTPRD_ENST00000356435.5_Missense_Mutation_p.T543I|PTPRD_ENST00000355233.5_Missense_Mutation_p.T543I|PTPRD_ENST00000397606.3_Missense_Mutation_p.T533I|PTPRD_ENST00000397617.3_Missense_Mutation_p.T533I|PTPRD_ENST00000397611.3_Missense_Mutation_p.T540I|PTPRD_ENST00000540109.1_Missense_Mutation_p.T543I|PTPRD_ENST00000360074.4_Missense_Mutation_p.T530I|PTPRD_ENST00000537002.1_Missense_Mutation_p.T540I|PTPRD_ENST00000358503.5_Missense_Mutation_p.T530I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	543	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGGCAATGGTATCTGAACG	0.468000										TSP Lung(15;0.13)			7	147					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732864	88732864	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:88732864G>A	ENST00000226284.5	+	7	823	c.756G>A	c.(754-756)ggG>ggA	p.G252G		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	252					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CACCTTTTGGGAAAACCACCA	0.502000													4	31					0	0	1	0	0
CD320	51293	broad.mit.edu	37	19	8367401	8367401	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8367401C>T	ENST00000301458.5	-	5	859	c.795G>A	c.(793-795)ctG>ctA	p.L265L	CD320_ENST00000537716.2_Silent_p.L223L	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	265					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TCATGGCCACCAGTAACCCCA	0.647000													9	113					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230629	21230629	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21230629A>T	ENST00000233242.1	-	26	9238	c.9111T>A	c.(9109-9111)ctT>ctA	p.L3037L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3037					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGAAAAGAAAAGAGAATTTT	0.408000													7	38					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97702545	97702545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:97702545C>T	ENST00000275053.4	-	10	1272	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	MMS22L_ENST00000369251.2_Missense_Mutation_p.R336K	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	336					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CATAGAGGATCTTCTTCGGTC	0.358000													5	61					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283606	159283606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:159283606G>A	ENST00000332217.5	-	1	843	c.844C>T	c.(844-846)Cac>Tac	p.H282Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H282Y(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTAGGGGAGTGATGAGTGTAG	0.507000													5	77					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595227	64595227	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64595227G>A	ENST00000342711.5	-	31	3995	c.3996C>T	c.(3994-3996)ttC>ttT	p.F1332F		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1332	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGTTCTCGCTGAACACTGTCA	0.627000													8	94					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874367	74874367	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:74874367G>A	ENST00000331628.3	-	4	835	c.588C>T	c.(586-588)ttC>ttT	p.F196F	SYNDIG1L_ENST00000554823.1_Silent_p.F196F	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	196					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGCCAGGCGGAAGTCCCCTT	0.662000													14	161					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24789026	24789026	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:24789026G>A	ENST00000310677.4	-	22	2768	c.2655C>T	c.(2653-2655)ttC>ttT	p.F885F	ADCY4_ENST00000554068.2_Silent_p.F885F|ADCY4_ENST00000418030.2_Silent_p.F885F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	885					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCAGAGTAGAACTCCTTGA	0.488000													5	88					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102469213	102469213	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:102469213C>T	ENST00000321521.9	+	3	744	c.171C>T	c.(169-171)tcC>tcT	p.S57S	PPIP5K2_ENST00000414217.1_Silent_p.S57S|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.S57S			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	57					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						AATCCAAATCCAAACCAATGA	0.338000													7	76					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44142400	44142400	+	Missense_Mutation	SNP	C	C	T	rs145814117	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:44142400C>T	ENST00000416848.2	-	3	1411	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	PUS7L_ENST00000551923.1_Missense_Mutation_p.R308Q|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308Q|PUS7L_ENST00000553166.1_Missense_Mutation_p.R308Q|PUS7L_ENST00000431332.3_5'UTR	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	308					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTCCTTTCGTAGGGTAAA	0.318000													3	23					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236607	140236607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140236607G>A	ENST00000307360.5	+	1	974	c.974G>A	c.(973-975)gGa>gAa	p.G325E	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G325E|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGATAAGGGAAACCCACCT	0.403000													5	128					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114933	23114933	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:23114933G>A	ENST00000390313.2	+	0	214																											CATCTATAGCGATAGCAACCG	0.582000													9	57					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624467	158624467	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158624467G>A	ENST00000368148.3	-	21	3150	c.2970C>T	c.(2968-2970)gcC>gcT	p.A990A	SPTA1_ENST00000368147.3_Silent_p.A990A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	990	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGGGCTGCGGGCCTGGAAGT	0.468000													4	58					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4623881	4623881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4623881C>T	ENST00000346341.2	+	13	1161	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	ARRB2_ENST00000574954.1_Splice_Site_p.A169_splice|ARRB2_ENST00000381488.6_Splice_Site_p.A346_splice|ARRB2_ENST00000572457.1_Splice_Site_p.A169_splice|ARRB2_ENST00000575877.1_Splice_Site_p.S317_splice|ARRB2_ENST00000571206.1_Splice_Site_p.A169_splice|ARRB2_ENST00000412477.3_Splice_Site_p.A382_splice|ARRB2_ENST00000269260.2_Splice_Site_p.A361_splice	NM_001257331.1|NM_199004.1	NP_001244260.1|NP_945355.1	P32121	ARRB2_HUMAN	arrestin, beta 2	361	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GTCCCCCCAGCCGCTCCGGAG	0.587000													3	48					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763274	42763274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:42763274G>A	ENST00000379274.2	+	15	1762	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	DGKH_ENST00000536612.1_Missense_Mutation_p.E445K|DGKH_ENST00000261491.4_Missense_Mutation_p.E581K|DGKH_ENST00000540693.1_Missense_Mutation_p.E581K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.E336K|DGKH_ENST00000337343.4_Missense_Mutation_p.E581K			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	581	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CATTGTGGAAGAAGATGCTGT	0.532000													5	50					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90164656	90164656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90164656C>T	ENST00000268138.7	+	19	3292	c.3187C>T	c.(3187-3189)Cgg>Tgg	p.R1063W	TICRR_ENST00000560985.1_Missense_Mutation_p.R1062W|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		CCAAAGTATTCGGTCTCCCAA	0.388000													5	76					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98763836	98763836	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98763836A>C	ENST00000266058.4	-	34	4099	c.3854T>G	c.(3853-3855)cTc>cGc	p.L1285R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L1285R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1285	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCCACATAGAGTGGCGCCTC	0.587000													15	121					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984833	85984833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:85984833G>A	ENST00000372113.4	-	2	153	c.148C>T	c.(148-150)Cct>Tct	p.P50S	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGTTCCCAGGGATCTTTCCC	0.448000													9	101					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281630	103281630	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103281630C>T	ENST00000233969.2	+	3	967	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	275						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGCAGGAATCGCCAACTTCT	0.433000													6	175					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355638	10355638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10355638C>T	ENST00000255381.2	-	27	3468	c.3358G>A	c.(3358-3360)Gag>Aag	p.E1120K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1120					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGCTCCTCAATGCGGGCC	0.512000													6	60					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155485632	155485632	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:155485632G>A	ENST00000461783.3	+	10	3385	c.2112G>A	c.(2110-2112)ggG>ggA	p.G704G	TIAM2_ENST00000528391.2_Silent_p.G16G|TIAM2_ENST00000367174.2_Silent_p.G56G|TIAM2_ENST00000529824.2_Silent_p.G704G|TIAM2_ENST00000360366.4_Silent_p.G704G|TIAM2_ENST00000456877.2_Silent_p.G16G|TIAM2_ENST00000318981.5_Silent_p.G704G|TIAM2_ENST00000456144.1_Silent_p.G704G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	704					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAAGGTGGGGAGTTACCGA	0.537000													9	154					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65175614	65175614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:65175614C>T	ENST00000381210.3	-	6	697	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.R196Q	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	196					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.R196P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAAGGTATCGGATGTAGTG	0.343000													7	96					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21519301	21519301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21519301C>T	ENST00000313654.9	+	68	9218	c.8977C>T	c.(8977-8979)Ccc>Tcc	p.P2993S	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1328S|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1384S|LAMA3_ENST00000399516.3_Missense_Mutation_p.P2937S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2993	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGGACATTCCCACCAGCCA	0.557000													20	280					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100813	66100813	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66100813G>A	ENST00000311320.4	-	9	1917	c.1791C>T	c.(1789-1791)acC>acT	p.T597T	RIN1_ENST00000424433.2_Silent_p.T492T|RIN1_ENST00000530056.1_Silent_p.T431T|RIN1_ENST00000524804.1_5'UTR	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	597	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCAGTGGGAGGGTGTGGGCCT	0.682000													6	38					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54847642	54847642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54847642C>T	ENST00000545554.1	+	28	5890	c.5890C>T	c.(5890-5892)Cga>Tga	p.R1964*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1964*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1962*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1964	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCACATGATTCGAGAGGATGC	0.403000													4	35					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432591	2432591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:2432591C>T	ENST00000452833.1	-	18	2787	c.2779G>A	c.(2779-2781)Gag>Aag	p.E927K	TRPM5_ENST00000533060.1_Missense_Mutation_p.E925K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E925K|TRPM5_ENST00000528453.1_Missense_Mutation_p.E925K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	925						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCATCAATCTCGTCCAGTGGG	0.642000													4	18					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38946702	38946702	+	Silent	SNP	G	G	A	rs148454920		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38946702G>A	ENST00000450244.1	-	11	1782	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	SCN11A_ENST00000456224.3_Silent_p.I528I|SCN11A_ENST00000444237.2_Silent_p.I528I|SCN11A_ENST00000302328.3_Silent_p.I528I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	528					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGATGGTGAGGATGCTGACAG	0.483000													16	154					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482100	178482100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:178482100C>T	ENST00000355689.4	-	1	1594	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	444					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AAGACCTTTTCCACCATTGGA	0.388000													3	41					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217378	150217378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150217378G>A	ENST00000313543.4	+	2	473	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	106							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCTACACAGAGGAGGAGCA	0.547000													5	74					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336837	31336837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31336837G>A	ENST00000544665.3	+	21	2596	c.2525G>A	c.(2524-2526)cGa>cAa	p.R842Q	ITGAM_ENST00000287497.8_Missense_Mutation_p.R841Q	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	841					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGCTCACAGCGATCCTGGCGC	0.602000													5	62					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3019773	3019773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:3019773G>A	ENST00000602557.1	-	39	6310	c.5755C>T	c.(5755-5757)Cca>Tca	p.P1919S	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1918S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1918S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1919S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1919S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1918S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1919S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1919	Sushi 11.					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)		GGGAGGGCTGGTTCTTGGCAT	0.448000													3	19					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603198	138603198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138603198C>T	ENST00000440172.1	-	2	1222	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E392K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E342K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	392						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTATGCAATTCGGATGTTTTG	0.512000			O	BRAF	pilocytic astrocytoma								10	87					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15714669	15714669	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:15714669T>A	ENST00000378076.3	-	7	1109	c.756A>T	c.(754-756)gaA>gaT	p.E252D		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	252					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						CCGTCTGCTTTTCTCCTGCCA	0.403000													6	62					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146129	31146129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31146129G>A	ENST00000304166.4	+	16	1527	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R392Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R441Q|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R469Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	413					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAGATCAAGCGAAAATGGCGA	0.612000													20	92					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359357	66359357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66359357C>T	ENST00000333861.3	-	1	1197	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	377										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGAGGCAGGCCTGAGTCCAG	0.582000													9	90					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	G	A	rs145373937		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:26734223G>A	ENST00000396005.3	-	2	679	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124C	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000													24	237					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64208791	64208791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:64208791C>T	ENST00000272322.4	-	3	521	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	VPS54_ENST00000409558.3_Missense_Mutation_p.E111K	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	123					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAGAGATTTCCTGTTGATAT	0.348000													11	115					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953594	161953594	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:161953594G>A	ENST00000294794.3	-	8	2547	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	OLFML2B_ENST00000367938.1_Silent_p.I191I|OLFML2B_ENST00000367940.2_Silent_p.I709I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	708	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCCTGGGGACGATCTGTGTGT	0.547000													39	348					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541805	133541805	+	Missense_Mutation	SNP	C	C	T	rs144491492	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:133541805C>T	ENST00000409261.1	-	14	2952	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R860Q|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	860							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGATCTGATCGTAATTCAAA	0.532000													7	96					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152365	71152365	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:71152365G>A	ENST00000355527.3	-	6	810	c.534C>T	c.(532-534)atC>atT	p.I178I	DHCR7_ENST00000407721.2_Silent_p.I178I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	178					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACAGCAGTGGGATCCAGTTGT	0.577000									Smith-Lemli-Opitz syndrome				14	97					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115858481	115858481	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:115858481C>G	ENST00000264363.2	-	5	2078	c.1400G>C	c.(1399-1401)aGc>aCc	p.S467T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	467	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CACCATGATGCTATTGTGAAT	0.438000													4	93					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17559376	17559376	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17559376C>T	ENST00000375471.4	+	11	1316	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	408					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCTTGACTCCTTCGGCAACC	0.642000													7	45					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348268	348268	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:348268C>T	ENST00000604971.1	+	3	1233	c.120C>T	c.(118-120)gtC>gtT	p.V40V	DUSP22_ENST00000603453.1_Silent_p.V40V|DUSP22_ENST00000344450.5_Silent_p.V143V|DUSP22_ENST00000605035.1_Silent_p.V40V|DUSP22_ENST00000605315.1_Silent_p.V40V|DUSP22_ENST00000419235.2_Silent_p.V143V|DUSP22_ENST00000605863.1_Silent_p.V40V			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCATGAGGTCCATCAGGTAA	0.587000													4	117					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154197700	154197700	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154197700C>T	ENST00000360256.4	-	7	1115	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	305	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCGAGATTTCCAAGGACGCCT	0.448000													8	63					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97023694	97023694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97023694C>T	ENST00000329399.6	-	4	568	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	154					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAGATATTTTCAGAAGAGTAG	0.557000													11	74					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413173	2413173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2413173C>T	ENST00000202625.2	+	13	2066	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	TGM6_ENST00000381423.1_Missense_Mutation_p.P624L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	669					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGCCTCAGTCCAGTTTGACAT	0.587000													7	92					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94953647	94953647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94953647C>T	ENST00000341228.2	-	6	2033	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G413E	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	413					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCTTTATTTTCCAATAGGGTT	0.458000													16	122					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174747	34174747	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34174747C>A	ENST00000373381.4	-	22	3694	c.3518G>T	c.(3517-3519)gGg>gTg	p.G1173V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G46V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1133	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATTCCCTTCCCTGGCTGGGT	0.453000													21	135					2.41591e-17	2.45098e-17	1	1	0
OR6C1	390321	broad.mit.edu	37	12	55715217	55715217	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55715217A>G	ENST00000379668.2	+	1	872	c.834A>G	c.(832-834)tcA>tcG	p.S278S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAAACACCTCAGTAGCCCCCA	0.413000													8	124					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907245	16907245	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16907245A>T	ENST00000430580.2	-	16	2473	c.1586T>A	c.(1585-1587)cTc>cAc	p.L529H		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	529	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCTACCTGGGAGAATGTTTAC	0.423000													44	1206					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824907	74824907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:74824907C>T	ENST00000256362.4	+	2	1662	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	474					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGTAATTCCTTGGAAGAGT	0.652000													10	86					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96546844	96546844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:96546844C>T	ENST00000376747.3	-	24	2897	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	943					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATGTGACATCATATCGAGAT	0.343000													11	121					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365968	47365968	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47365968G>A	ENST00000505841.1	-	0	141					NR_002788.2																						GGGGGTGCAGGAAACAGGTGC	0.488000													7	55					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508548	44508548	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:44508548C>T	ENST00000260649.6	+	3	709	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC3A1_ENST00000409229.3_Silent_p.F211F|SLC3A1_ENST00000409387.1_Silent_p.F211F|SLC3A1_ENST00000410056.3_Silent_p.F211F|SLC3A1_ENST00000409741.1_Silent_p.F211F	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	211					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCATCGATTTCATACCAAACC	0.353000													7	82					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169085350	169085350	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:169085350G>A	ENST00000359299.3	+	5	497	c.309_splice	c.e5-1	p.G104_splice		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	104							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TTTCTCTAGGGAGTAGGCACT	0.363000													3	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544788	82544788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82544788C>T	ENST00000423517.2	-	7	12851	c.12514G>A	c.(12514-12516)Gaa>Aaa	p.E4172K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4172K|PCLO_ENST00000437081.1_Missense_Mutation_p.E892K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4103					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						GCTTGTTTTTCAAGTGTGAGT	0.368000													4	68					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768889	57768889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57768889C>T	ENST00000371030.2	+	1	2815	c.2815C>T	c.(2815-2817)Ccc>Tcc	p.P939S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	939						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTTTTCCCCCAAGTACCT	0.632000													11	164					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209758	3209758	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3209758C>T	ENST00000380059.3	-	16	2231	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.V667V|SLC4A11_ENST00000380056.3_Silent_p.V683V	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	683	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCGGTGCATTCACCAAGGCGG	0.667000													3	27					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622410	41622410	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41622410G>A	ENST00000331105.2	+	3	294	c.222G>A	c.(220-222)cgG>cgA	p.R74R		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGGCGGGTGGTGGTCC	0.597000													13	135					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821284	5821284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:5821284C>T	ENST00000381095.3	-	5	2062	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	NLGN4X_ENST00000381093.2_Missense_Mutation_p.E499K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E479K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E479K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.E479K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	479					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTTCATTTCGCTTTGGCAG	0.602000													6	38					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307918	46307918	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46307918G>A	ENST00000221538.3	-	3	1387	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	RSPH6A_ENST00000597055.1_Silent_p.P415P|RSPH6A_ENST00000600188.1_Silent_p.P151P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	415						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCTCCTCCTTGGGGATCACGG	0.657000													11	66					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508850	123508850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123508850G>A	ENST00000223026.4	+	3	1161	c.523G>A	c.(523-525)Gga>Aga	p.G175R	HYAL4_ENST00000476325.1_Missense_Mutation_p.G175R	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	175					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTCCGATATGGGAAAGAATGT	0.388000													14	71					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636842	142636842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142636842C>T	ENST00000409607.3	+	1	240	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	42						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGAGAAAACGCCCTCTGCAGG	0.547000													3	48					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208632	23208632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23208632C>T	ENST00000300061.2	+	6	1104	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	321					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAACCCATTCCTCGTGTCCTC	0.488000													4	68					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136455	90136455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:90136455G>A	ENST00000405460.2	+	78	16768	c.16672G>A	c.(16672-16674)Gat>Aat	p.D5558N	GPR98_ENST00000425867.2_Missense_Mutation_p.D1219N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5558					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)		TTCTGGAAAGGATTTTGTGAT	0.398000													12	67					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105876359	105876359	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:105876359G>A	ENST00000372548.4	+	6	1289		c.e6-1		CXorf57_ENST00000372544.2_Splice_Site	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57											NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATCCATATAGAAAACCGTGA	0.303000													6	32					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882264	52882264	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52882264C>T	ENST00000330722.6	-	7	1340	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	424	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTTGTTCTTGGCATCCT	0.587000													10	168					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3651887	3651887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3651887C>T	ENST00000356518.2	-	18	2330	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ADAM33_ENST00000379861.4_Missense_Mutation_p.E697K|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.E671K	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	697					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGCATACTTTCAGCCTGCACA	0.617000													13	92					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3447899	3447899	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3447899C>T	ENST00000301365.4	-	4	416	c.285G>A	c.(283-285)gaG>gaA	p.E95E	TRPV3_ENST00000572519.1_Silent_p.E95E|TRPV3_ENST00000576742.1_Silent_p.E95E			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	95						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGGATGGGGTCTCTGTCACAT	0.602000													9	37					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29420510	29420510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29420510G>A	ENST00000389048.3	-	27	4877	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1324	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATATCCAAGAGAAAAGATTTC	0.527000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	95					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34214176	34214176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:34214176G>A	ENST00000317619.3	-	18	1995	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V	CPNE1_ENST00000397445.1_Missense_Mutation_p.A534V|CPNE1_ENST00000317677.5_Missense_Mutation_p.A539V|CPNE1_ENST00000397446.1_Missense_Mutation_p.A534V|CPNE1_ENST00000397443.1_Missense_Mutation_p.A534V|CPNE1_ENST00000397442.1_Missense_Mutation_p.A478V|CPNE1_ENST00000352393.4_Missense_Mutation_p.A534V			Q99829	CPNE1_HUMAN	copine I	534					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCCTGGGGGGCCTGTGCAGG	0.617000													18	144					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46196496	46196496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46196496C>T	ENST00000393405.2	+	7	841	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	SNX11_ENST00000439357.2_Nonsense_Mutation_p.Q102*|SNX11_ENST00000452859.2_Nonsense_Mutation_p.Q19*|SNX11_ENST00000582104.1_Nonsense_Mutation_p.Q155*|SNX11_ENST00000359238.2_Nonsense_Mutation_p.Q163*|SNX11_ENST00000580219.1_Nonsense_Mutation_p.Q155*	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	163					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TGGCTGGGCCCAGGAAGAGAG	0.522000													8	109					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272821	77272821	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77272821A>T	ENST00000251089.2	-	5	1430	c.1318T>A	c.(1318-1320)Tca>Aca	p.S440T		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	440										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAGAGAGGTGAATCAGGGACA	0.567000													9	66					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072785	35072785	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35072785G>A	ENST00000382002.5	-	6	861	c.435C>T	c.(433-435)ccC>ccT	p.P145P	PRLR_ENST00000342362.5_Silent_p.P44P|PRLR_ENST00000513753.1_Silent_p.P145P|PRLR_ENST00000511486.1_Silent_p.P44P|PRLR_ENST00000348262.3_Silent_p.P145P|PRLR_ENST00000542609.1_Silent_p.P145P|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Silent_p.P74P|PRLR_ENST00000310101.5_Silent_p.P145P|PRLR_ENST00000231423.3_Silent_p.P145P	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	145	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCACAGGTAGGGTTTTCTGT	0.458000													9	73					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44598665	44598665	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:44598665C>T	ENST00000273320.3	+	2	555	c.126C>T	c.(124-126)ctC>ctT	p.L42L	ZKSCAN7_ENST00000426540.1_Silent_p.L42L|ZKSCAN7_ENST00000431636.1_Silent_p.L42L|ZKSCAN7_ENST00000341840.3_Silent_p.L42L	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GCAGCAGTCTCCAGAAGAACT	0.577000													14	67					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21154169	21154169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:21154169G>A	ENST00000602326.1	-	30	4643	c.4060C>T	c.(4060-4062)Cct>Tct	p.P1354S	EIF4G3_ENST00000537738.1_Missense_Mutation_p.P838S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P1348S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P1068S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P1354S|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P952S|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P1348S	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1348					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTCCAACAGGAAGTAAAGGT	0.378000													6	53					0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35742925	35742925	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:35742925A>C	ENST00000290310.2	+	2	288	c.148A>C	c.(148-150)Atc>Ctc	p.I50L		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	50					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						CTACTATGTCATCCTGTACCT	0.458000													9	78					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718593	103718593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:103718593C>T	ENST00000245312.3	-	1	603	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	3					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTGTTCGGATCATTCATTGCT	0.507000													9	97					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37916582	37916582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:37916582C>T	ENST00000199447.4	+	12	1339	c.967C>T	c.(967-969)Cga>Tga	p.R323*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.R323*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	323	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCATTACTTCGACCAAATCT	0.318000													8	29					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651946	11651946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11651946G>A	ENST00000252456.2	+	2	330	c.119G>A	c.(118-120)gGg>gAg	p.G40E	CNN1_ENST00000544952.1_Missense_Mutation_p.G20E|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	40	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGATCGAGGGGGTGACAGGC	0.612000													8	34					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151867	73151867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:73151867C>T	ENST00000377110.2	-	25	4369	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	TRPM3_ENST00000408909.2_Missense_Mutation_p.E1235K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1238K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1238K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1225K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1403K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1235K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1235K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1380K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1248K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1248K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1401						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTTTGGGTTCTTTTGCTACA	0.448000													20	105					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621349	7621349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7621349C>T	ENST00000221249.6	+	28	3421	c.2990C>T	c.(2989-2991)tCg>tTg	p.S997L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1045L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S970L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1035L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S997L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1036	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCATGACTTCGGTGCTGGAA	0.532000													29	337					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421187	40421187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40421187G>A	ENST00000221347.6	-	5	2741	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	912	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCTGCCCCGATGCTCGTTT	0.692000													3	22					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445948	32445948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32445948C>T	ENST00000266088.4	+	2	404	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	52					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCCACCAATCGTGGGACTGT	0.468000													22	300					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196456	24196456	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24196456A>T	ENST00000303531.7	+	14	1710	c.1558A>T	c.(1558-1560)Aag>Tag	p.K520*	PRKCB_ENST00000321728.7_Nonsense_Mutation_p.K520*	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	520	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)	GCCCTATGGGAAGTCCGTGGA	0.443000													4	113					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:34149264C>T	ENST00000346193.3	-	1	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	378								p.E378*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000													10	38					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540176	28540176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:28540176C>T	ENST00000452236.2	-	4	4107	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1164					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						ttacctacttcattgataatt	0.279000													3	5					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762131	96762131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:96762131C>T	ENST00000295266.4	+	1	893	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	277					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGAAAGGGGCCCATACTGATG	0.448000													6	72					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088773	39088773	+	Missense_Mutation	SNP	C	C	T	rs145044261		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:39088773C>T	ENST00000295373.6	-	5	905	c.779G>A	c.(778-780)gGa>gAa	p.G260E	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	260							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAATTTTTCTCCACAGATGGA	0.433000													7	65					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547240	43547240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43547240G>A	ENST00000400427.1	+	18	3982	c.3586G>A	c.(3586-3588)Gaa>Aaa	p.E1196K	UMODL1_ENST00000408989.2_Missense_Mutation_p.E1268K|UMODL1_ENST00000408910.2_Missense_Mutation_p.E1140K|UMODL1_ENST00000400424.1_Missense_Mutation_p.E1068K|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1140	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGTCAGGATCGAAGTGGGGCT	0.547000													9	103					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189140	7189140	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7189140G>A	ENST00000317370.8	+	10	1507	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	SLC2A4_ENST00000571308.1_Silent_p.Q413Q|SLC2A4_ENST00000424875.2_Silent_p.Q403Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	413					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTTCAGCCAGGGACCCCGCC	0.577000													7	73					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720289	140720289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140720289C>T	ENST00000394576.2	+	1	1751	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	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)			TCCGCAGAGCCCGGCTACCTG	0.662000													18	216					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389984	150389984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150389984G>A	ENST00000223293.5	+	3	704	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	204						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)		CTGTATTGAGGATCTGTTGAT	0.453000													6	179					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49353297	49353297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:49353297C>T	ENST00000225298.7	+	6	839	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CAGTTCCATCCCGGTGCACAG	0.383000													5	55					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42299962	42299962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:42299962C>A	ENST00000399518.3	-	3	844	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	PLA2G4E_ENST00000413860.2_Nonsense_Mutation_p.E91*|CTD-2382E5.2_ENST00000552704.1_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	102	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTGAAGCTTTCATTCCACTCT	0.537000													4	25					0.184627	0.184936	1	1	0
CRIM1	51232	broad.mit.edu	37	2	36704154	36704154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:36704154G>A	ENST00000280527.2	+	6	1481	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	372	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCCCAGTGTGGTGAGATAAA	0.483000													21	88					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57575908	57575908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57575908C>T	ENST00000524630.1	+	13	2633	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F	CTNND1_ENST00000360682.6_Missense_Mutation_p.S713F|CTNND1_ENST00000526938.1_Missense_Mutation_p.S713F|CTNND1_ENST00000526357.1_Missense_Mutation_p.S653F|CTNND1_ENST00000525902.1_Missense_Mutation_p.S390F|CTNND1_ENST00000530748.1_Missense_Mutation_p.S659F|CTNND1_ENST00000529526.1_Missense_Mutation_p.S653F|CTNND1_ENST00000532245.1_Missense_Mutation_p.S606F|CTNND1_ENST00000534579.1_Missense_Mutation_p.S653F|CTNND1_ENST00000361796.4_Missense_Mutation_p.S707F|CTNND1_ENST00000528621.1_Missense_Mutation_p.S653F|CTNND1_ENST00000529919.1_Missense_Mutation_p.S713F|CTNND1_ENST00000528232.1_Missense_Mutation_p.S612F|CTNND1_ENST00000428599.2_Missense_Mutation_p.S707F|CTNND1_ENST00000415361.2_Missense_Mutation_p.S612F|CTNND1_ENST00000526772.1_Missense_Mutation_p.S384F|CTNND1_ENST00000426142.2_Missense_Mutation_p.S606F|CTNND1_ENST00000532649.1_Missense_Mutation_p.S653F|CTNND1_ENST00000399050.4_Missense_Mutation_p.S713F|CTNND1_ENST00000532463.1_Missense_Mutation_p.S606F|CTNND1_ENST00000533667.1_Missense_Mutation_p.S384F|CTNND1_ENST00000399039.4_Missense_Mutation_p.S713F|CTNND1_ENST00000361332.4_Missense_Mutation_p.S707F|CTNND1_ENST00000531014.1_Missense_Mutation_p.S384F|CTNND1_ENST00000530094.1_Missense_Mutation_p.S606F|CTNND1_ENST00000361391.6_Missense_Mutation_p.S707F|CTNND1_ENST00000529986.1_Missense_Mutation_p.S606F|CTNND1_ENST00000532844.1_Missense_Mutation_p.S659F|CTNND1_ENST00000358694.6_Missense_Mutation_p.S707F|CTNND1_ENST00000532787.1_Missense_Mutation_p.S606F|CTNND1_ENST00000529873.1_Missense_Mutation_p.S653F|CTNND1_ENST00000527467.1_Missense_Mutation_p.S390F			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	713					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGGCTCTTTCTGCCATAGCT	0.463000													4	85					0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79856296	79856296	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:79856296A>G	ENST00000512733.1	-	2	540	c.327T>C	c.(325-327)tcT>tcC	p.S109S	PAQR3_ENST00000295462.3_Intron|PAQR3_ENST00000380645.4_Silent_p.S109S	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	109						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AAAGACAAATAGAACAAATTA	0.403000													24	238					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915400	119915400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:119915400G>A	ENST00000331113.4	+	1	1679	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	238					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCTGCGTCATGATCTTCACAG	0.542000													8	63					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52272349C>T	ENST00000598776.1	+	2	1210	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_ENST00000340023.6_Silent_p.I146I|FPR2_ENST00000598953.1_Silent_p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	146					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478000													10	77					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59968924	59968924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:59968924G>A	ENST00000444766.3	-	14	1924	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	INTS2_ENST00000251334.6_Nonsense_Mutation_p.Q609*	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	617					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGACTGGCTGATTTGTGGCT	0.348000													12	165					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523969	55523969	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55523969C>T	ENST00000305377.5	+	1	505	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGGGATTTCTCCTGGCGGCCA	0.498000													4	60					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38752383	38752383	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38752383G>A	ENST00000449082.2	-	23	4094	c.4095C>T	c.(4093-4095)acC>acT	p.T1365T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1365					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCTTTAAAGGTTGCCTGGA	0.552000													6	26					0	0	1	0	0
PSMA2	5683	broad.mit.edu	37	7	42966987	42966987	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:42966987A>T	ENST00000442788.1	-	2	128	c.113T>A	c.(112-114)aTt>aAt	p.I38N	PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000223321.4_Missense_Mutation_p.I38N|PSMA2_ENST00000538645.1_Intron			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	38					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATTACCTTTAATTCCCACGGA	0.383000													4	83					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916227	131916227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:131916227C>T	ENST00000286355.5	-	7	3794	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G568S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	568					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACCATGGCCCTCTTCCACG	0.453000										HNSCC(32;0.087)			10	152					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20330972	20330972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20330972C>T	ENST00000302555.5	-	6	1126	c.977G>A	c.(976-978)aGc>aAc	p.S326N	GP2_ENST00000341642.5_Missense_Mutation_p.S179N|GP2_ENST00000381362.4_Missense_Mutation_p.S329N|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.S182N			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	329	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTTGGAGGCTGACTTTCAT	0.468000													6	111					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553935	150553935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150553935G>A	ENST00000493429.1	+	4	961	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AOC1_ENST00000467291.1_Missense_Mutation_p.R126Q|AOC1_ENST00000416793.2_Missense_Mutation_p.R126Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R126Q					amine oxidase, copper containing 1																		TGCTACATGCGAGCACTGTCC	0.637000													7	87					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9789031	9789031	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9789031T>C	ENST00000383829.2	+	14	4065	c.3661T>C	c.(3661-3663)Tga>Cga	p.*1221R	BRPF1_ENST00000302054.3_Nonstop_Mutation_p.*1215R|BRPF1_ENST00000424362.1_Nonstop_Mutation_p.*1214R|BRPF1_ENST00000457855.1_Nonstop_Mutation_p.*1215R|BRPF1_ENST00000433861.2_Nonstop_Mutation_p.*1120R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	0					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGATAGTGATTGATACTGCTC	0.562000													15	123					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370123	240370123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:240370123G>A	ENST00000319653.9	+	5	2241	c.2011G>A	c.(2011-2013)Gga>Aga	p.G671R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	671					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAGTCTGAGGGACAGGCCAC	0.423000													3	64					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717043	13717043	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:13717043G>A	ENST00000279593.3	-	13	3338	c.3129C>T	c.(3127-3129)tcC>tcT	p.S1043S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1043					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCTTGAAGGAGAATTTGC	0.582000													4	37					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196714990	196714990	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:196714990G>A	ENST00000367429.4	+	21	3594	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1118	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGACAATGGGGACATTACTT	0.393000													5	124					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919217	4919217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4919217G>A	ENST00000433855.1	+	1	876	c.10G>A	c.(10-12)Gag>Aag	p.E4K	KCNA6_ENST00000280684.3_Missense_Mutation_p.E4K	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	4						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATGAGATCGGAGAAATCCCT	0.736000										HNSCC(72;0.22)			4	24					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121238	38121238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:38121238C>T	ENST00000406386.3	+	7	2930	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	892					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGGAACAATCCCAGGAATTCA	0.532000													61	330					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10777287	10777287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10777287G>A	ENST00000075503.3	-	8	1409	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	297	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGAGAAGCCGTTCTGGGGCA	0.493000										HNSCC(73;0.22)			22	152					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20959876C>T	ENST00000261383.3	-	57	11271	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3758					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAATTTCCTTACAGTAG	0.532000													4	29					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880857	142880857	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142880857A>G	ENST00000446620.1	+	1	346	c.346A>G	c.(346-348)Agt>Ggt	p.S116G		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	116					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ATTCAAAATAAGTTTTATATT	0.373000													5	71					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474710	108474710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108474710G>A	ENST00000295755.6	-	3	449	c.251C>T	c.(250-252)tCg>tTg	p.S84L	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	84					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AACATCCCACGAACCACAGCC	0.577000													11	135					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273720	124273720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124273720G>A	ENST00000368984.3	+	9	1416	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	430	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGGTCTCAAGGAAAACGACGT	0.488000													20	356					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846720	55846720	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55846720C>T	ENST00000322678.1	+	1	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTGTTCATCCCACATGATTG	0.418000													7	56					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951283	73951283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:73951283G>A	ENST00000370384.3	-	5	1183	c.683C>T	c.(682-684)tCg>tTg	p.S228L	KHDC1_ENST00000257765.5_Missense_Mutation_p.S155L|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	228						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ATGGAAACCCGAACAACCAAT	0.493000													7	93					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510699	38510699	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38510699G>A	ENST00000263409.4	-	7	1020	c.858C>T	c.(856-858)aaC>aaT	p.N286N	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.N286N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	286					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCAAGGGGCAGTTTGTATGGC	0.373000			T	PLAG1	salivary adenoma								4	49					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35735337	35735337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35735337C>T	ENST00000353704.2	+	6	1015	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	217					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		TATGGAGCTTCAGAACAAAGT	0.433000													18	228					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052776	97052776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:97052776C>T	ENST00000326771.2	+	4	690	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	FHL5_ENST00000541107.1_Missense_Mutation_p.H104Y	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	104	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAAGTGCTTCCACTGCAAGAG	0.517000													5	66					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63908028	63908028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:63908028G>A	ENST00000443617.2	-	76	14120	c.14033C>T	c.(14032-14034)tCc>tTc	p.S4678F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4678	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTCCTGTTGGAAAATGTGAG	0.438000													3	24					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799344	196799344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196799344C>T	ENST00000312428.6	-	21	3542	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1148	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						ATAACTCTCTCTAATTCAACC	0.368000													16	164					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67782384	67782384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:67782384G>A	ENST00000335894.4	+	19	2909	c.2843G>A	c.(2842-2844)aGa>aAa	p.R948K	IQCH_ENST00000358767.3_Intron|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R605K|IQCH_ENST00000360277.4_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	948										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CACCTGAAGAGACACAAGTTG	0.343000													16	174					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181834	81181834	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:81181834C>T	ENST00000394685.3	+	10	1406	c.987C>T	c.(985-987)ttC>ttT	p.F329F	KIAA1199_ENST00000220244.3_Silent_p.F329F|KIAA1199_ENST00000356249.5_Silent_p.F329F			Q8WUJ3	K1199_HUMAN	KIAA1199	329										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGGAGTGGTTCGATCATGATA	0.473000													5	71					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565605	24565605	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:24565605C>T	ENST00000376862.3	+	3	1227	c.594C>T	c.(592-594)atC>atT	p.I198I	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	198					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						CTCTGGGCATCGCAGCCTTCT	0.617000													11	128					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117560945	117560945	+	Nonsense_Mutation	SNP	C	C	T	rs140225271		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117560945C>T	ENST00000256652.4	+	6	1838	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	CD101_ENST00000369470.1_Nonsense_Mutation_p.R594*	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	594	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCAGCTTATTCGAATCACCCA	0.502000													9	61					0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881552	111881552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:111881552C>T	ENST00000393256.3	+	2	503	c.230C>T	c.(229-231)tCc>tTc	p.S77F	BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.S77F|BCL2L11_ENST00000337565.5_Intron	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	77					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GCTACCAGATCCCCGCTTTTC	0.592000													8	105					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114249075	114249075	+	Silent	SNP	C	C	T	rs143961112	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:114249075C>T	ENST00000371936.1	-	5	558	c.309G>A	c.(307-309)gcG>gcA	p.A103A	IL13RA2_ENST00000243213.1_Silent_p.A103A			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	103	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTGTATCTTCGCTTCAATGC	0.373000													5	50					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639498	97639498	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:97639498G>A	ENST00000298440.1	-	4	759	c.516C>T	c.(514-516)atC>atT	p.I172I	OXGR1_ENST00000543457.1_Silent_p.I172I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	172						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGGTTGATGTGATCAAGAAGG	0.453000													10	101					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51387802	51387802	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51387802G>A	ENST00000266037.9	+	40	4109	c.4086G>A	c.(4084-4086)agG>agA	p.R1362R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1362	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTATGGCAGGAAGTTTCCTT	0.428000													12	80					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837505	81837505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:81837505C>T	ENST00000555447.1	-	5	810	c.398G>A	c.(397-399)tGg>tAg	p.W133*	STON2_ENST00000267540.2_Nonsense_Mutation_p.W133*	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	133					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGGCATGTCCAGCAGGGCAT	0.468000													12	85					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923970	92923970	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:92923970C>T	ENST00000327111.3	+	2	2498	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	271					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTCTATGCCGCTGCACGTGGC	0.667000													9	63					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078486	157078486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:157078486C>T	ENST00000265007.6	-	1	942	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.G201S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	201					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCTTTTGCCTGCCCCGCCT	0.662000													16	157					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186669990	186669990	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186669990G>A	ENST00000343098.5	+	17	16224	c.16224G>A	c.(16222-16224)ctG>ctA	p.L5408L	FSIP2_ENST00000424728.1_Silent_p.L5319L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAATTCTCTGATAAGGGAAT	0.299000													5	51					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326879	114326879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:114326879G>A	ENST00000297405.5	-	2	566	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q68*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q108*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q108*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	108	CUB 1.					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						GCAAATGACTGAAAAACAATT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	71					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972231	22972231	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:22972231C>T	ENST00000356864.3	+	3	760	c.228C>T	c.(226-228)acC>acT	p.T76T	TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	76					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGGATTACACCAACGCTTCCA	0.483000													17	141					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660931	34660931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:34660931C>T	ENST00000555003.1	+	12	2606	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	IL11RA_ENST00000318041.9_Missense_Mutation_p.P417L|IL11RA_ENST00000441545.2_Missense_Mutation_p.P417L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	417						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GACAGGCGTCCAGGTGAGTAG	0.527000													7	105					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178425883	178425883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:178425883C>T	ENST00000448150.3	+	13	3024	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	RASAL2_ENST00000367649.3_Missense_Mutation_p.P747S|RASAL2_ENST00000462775.1_Missense_Mutation_p.P606S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	606					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGGCCTCTCCCTCGTGTTCT	0.448000													28	262					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561111	117561111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117561111C>T	ENST00000256652.4	+	6	2004	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	CD101_ENST00000369470.1_Missense_Mutation_p.S649F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	649	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GACAGAAATTCCCTATACAAC	0.468000													11	78					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4087875	4087875	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4087875G>A	ENST00000380175.4	+	0	765				C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000430835.2_De_novo_Start_InFrame	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201											central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCCCCTTTGAGATGCTGTCTA	0.502000													31	449					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86355108	86355108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:86355108C>T	ENST00000254630.7	+	14	1207	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	381						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCTGTTTGATCAACCTGGTAT	0.338000													13	149					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173165	126173165	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126173165G>A	ENST00000339582.2	-	9	3079	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	GRM8_ENST00000444921.2_Silent_p.I757I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.I757I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATCAAGAGGATACTGTATC	0.443000										HNSCC(24;0.065)			3	45					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994604	140994604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:140994604G>A	ENST00000285879.4	+	4	1700	c.1414G>A	c.(1414-1416)Ggt>Agt	p.G472S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	472							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)					TACTTTTGAGGGTTTTCCCCA	0.488000										HNSCC(15;0.026)			16	117					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131858390	131858390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131858390G>A	ENST00000318080.2	-	13	1846	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	518					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGCAGGTGTCGATCAAAGGCC	0.642000													22	163					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85613284	85613284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:85613284C>T	ENST00000376447.3	-	13	2061	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	601					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTTGCCTCTCCTGACCAGCT	0.448000													22	305					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20981309	20981309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20981309C>T	ENST00000261383.3	-	52	8262	c.8263G>A	c.(8263-8265)Gaa>Aaa	p.E2755K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2755	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCACATTCGTTCTGTGGG	0.597000													13	90					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585687	189585687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:189585687G>A	ENST00000264731.3	+	7	1037	c.948G>A	c.(946-948)atG>atA	p.M316I	TP63_ENST00000418709.2_Missense_Mutation_p.M316I|TP63_ENST00000392460.3_Missense_Mutation_p.M316I|TP63_ENST00000456148.1_Missense_Mutation_p.M222I|TP63_ENST00000392461.3_Missense_Mutation_p.M222I|TP63_ENST00000449992.1_Missense_Mutation_p.M137I|TP63_ENST00000382063.4_Missense_Mutation_p.M231I|TP63_ENST00000440651.2_Missense_Mutation_p.M316I|TP63_ENST00000320472.5_Missense_Mutation_p.M316I|TP63_ENST00000437221.1_Missense_Mutation_p.M222I|TP63_ENST00000392463.2_Missense_Mutation_p.M222I|TP63_ENST00000354600.5_Missense_Mutation_p.M222I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	316					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTGGAGGGATGAACCGCCGTC	0.403000										HNSCC(45;0.13)			4	54					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395651	76395651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:76395651G>A	ENST00000357063.3	+	15	3962	c.2702G>A	c.(2701-2703)cGg>cAg	p.R901Q	LMO7_ENST00000321797.8_Missense_Mutation_p.R616Q|LMO7_ENST00000341547.4_Missense_Mutation_p.R567Q|LMO7_ENST00000377534.3_Missense_Mutation_p.R901Q|LMO7_ENST00000465261.2_Missense_Mutation_p.R616Q|LMO7_ENST00000526202.1_Missense_Mutation_p.R466Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	901						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAAGTTACCGGAAAACTGAT	0.483000													3	56					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256768	171256768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:171256768C>T	ENST00000334231.6	+	17	1889	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	MYO3B_ENST00000408978.4_Missense_Mutation_p.S621F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S621F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	621	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGCTATTTCCTCTCAACAT	0.403000													13	133					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861651	52861651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:52861651G>A	ENST00000343457.3	-	4	1543	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	513						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCGGCATGTGGATGTCTCTGG	0.522000													9	141					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2156695	2156695	+	Missense_Mutation	SNP	G	G	A	rs142012621		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:2156695G>A	ENST00000416167.2	-	2	1225	c.59C>T	c.(58-60)tCg>tTg	p.S20L	IGF2_ENST00000381389.1_Missense_Mutation_p.S20L|IGF2_ENST00000300632.5_Missense_Mutation_p.S20L|IGF2_ENST00000381406.4_Missense_Mutation_p.S20L|IGF2_ENST00000381395.1_Missense_Mutation_p.S20L|IGF2_ENST00000381392.1_Missense_Mutation_p.S20L|IGF2_ENST00000434045.2_Missense_Mutation_p.S76L|IGF2_ENST00000418738.2_Missense_Mutation_p.S20L|IGF2_ENST00000337883.6_Missense_Mutation_p.S20L			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	20					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AATGCAGCACGAGGCGAAGGC	0.632000													5	73					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39009955	39009955	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39009955T>C	ENST00000355481.4	+	67	10251	c.10120T>C	c.(10120-10122)Tcc>Ccc	p.S3374P	RYR1_ENST00000360985.3_Missense_Mutation_p.S3374P|RYR1_ENST00000359596.3_Missense_Mutation_p.S3374P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3374					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAGGTGGTGTCCGAGGAGGA	0.677000													4	27					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651513	84651513	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84651513C>T	ENST00000286744.5	+	21	3357	c.3133C>T	c.(3133-3135)Ctg>Ttg	p.L1045L	ADAMTSL3_ENST00000567476.1_Silent_p.L1045L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1045						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGACCTTTATCTGGATGATGA	0.448000													5	73					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348265	91348265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:91348265C>T	ENST00000358859.2	-	1	688	c.255G>A	c.(253-255)tgG>tgA	p.W85*	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.W85C(1)									CCCAGCACCCCCAGTTAGAGC	0.632000													5	49					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124567376	124567376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:124567376G>A	ENST00000296181.4	-	4	687	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	131					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCCACCTGGCGAACCTGTAGC	0.552000													10	68					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55537550C>T	ENST00000220676.1	+	4	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	370					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAGTTTTCCAGGAAGAAC	0.398000													4	35					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105241278	105241278	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105241278G>A	ENST00000554581.1	-	6	2110	c.630C>T	c.(628-630)ctC>ctT	p.L210L	AKT1_ENST00000554848.1_Silent_p.L210L|AKT1_ENST00000555528.1_Silent_p.L210L|AKT1_ENST00000407796.2_Silent_p.L210L|AKT1_ENST00000402615.2_Silent_p.L210L|AKT1_ENST00000349310.3_Silent_p.L210L|AKT1_ENST00000544168.1_Silent_p.L148L			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	210	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CACTCACTGTGAGGAAGGGGT	0.647000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								5	70					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20055886	20055886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20055886C>T	ENST00000245957.5	+	5	501	c.425C>T	c.(424-426)tCc>tTc	p.S142F	C20orf26_ENST00000451767.2_Missense_Mutation_p.S142F|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.S142F|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	142										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATCGTGCCATCCTACATGAGC	0.498000													6	88					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44483156	44483156	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:44483156G>A	ENST00000398165.3	-	10	1120	c.861C>T	c.(859-861)ctC>ctT	p.L287L	CBS_ENST00000398168.1_Silent_p.L287L|CBS_ENST00000352178.5_Silent_p.L287L|CBS_ENST00000398158.1_Silent_p.L287L|CBS_ENST00000544202.1_Silent_p.L199L|CBS_ENST00000359624.3_Silent_p.L287L	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	287					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCGGCTCTGCGAGGATGGACC	0.612000													17	139					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55269012	55269012	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:55269012C>T	ENST00000275493.2	+	25	3255	c.3078C>T	c.(3076-3078)agC>agT	p.S1026S	EGFR_ENST00000455089.1_Silent_p.S981S|EGFR_ENST00000454757.2_Silent_p.S973S|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1026	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTTCAGCAGCCCCTCCACGT	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	126					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405705	106405705	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106405705C>T	ENST00000390593.2	-	0	320																											GATGGTTATTCGACTTTTCAC	0.493000													39	191					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639247	38639247	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38639247G>A	ENST00000413689.1	-	14	2428	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	SCN5A_ENST00000451551.2_Silent_p.F745F|SCN5A_ENST00000414099.2_Silent_p.F745F|SCN5A_ENST00000425664.1_Silent_p.F745F|SCN5A_ENST00000450102.2_Silent_p.F745F|SCN5A_ENST00000443581.1_Silent_p.F745F|SCN5A_ENST00000449557.2_Silent_p.F745F|SCN5A_ENST00000455624.2_Silent_p.F745F|SCN5A_ENST00000423572.2_Silent_p.F745F|SCN5A_ENST00000333535.4_Silent_p.F745F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	745					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCATCTCCTCGAATTCACTTG	0.562000													9	92					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280848	47280848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47280848C>T	ENST00000271153.4	+	8	1018	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	CYP4B1_ENST00000452782.2_Missense_Mutation_p.L166F|CYP4B1_ENST00000371919.4_Missense_Mutation_p.L314F|CYP4B1_ENST00000371923.4_Missense_Mutation_p.L329F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	328					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTCCTGGTTTCTCTACTGCAT	0.537000													11	60					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26365694	26365694	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26365694T>C	ENST00000374278.3	-	7	1145	c.929A>G	c.(928-930)gAg>gGg	p.E310G	SLC30A2_ENST00000374276.3_Missense_Mutation_p.E359G	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	310					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATGTCCTCCGAGTAGTC	0.602000													4	69					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66384348	66384348	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:66384348C>T	ENST00000329654.4	+	3	298	c.111C>T	c.(109-111)atC>atT	p.I37I	PDE4B_ENST00000371049.3_Silent_p.I37I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	37					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.I37I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACTTGGGATCGACCTCTGGA	0.438000													10	74					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427604	37427604	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:37427604G>A	ENST00000379826.4	-	6	1554	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	SMAD9_ENST00000399275.2_Silent_p.V404V|SMAD9_ENST00000350148.5_Silent_p.V367V	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	404	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GTTCATACACGACTTCAAAGC	0.473000													5	80					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17778931	17778931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17778931C>T	ENST00000428389.2	-	7	726	c.727G>A	c.(727-729)Gat>Aat	p.D243N	UNC13A_ENST00000551649.1_Missense_Mutation_p.D155N|UNC13A_ENST00000552293.1_Missense_Mutation_p.D155N|UNC13A_ENST00000519716.2_Missense_Mutation_p.D155N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D155N|UNC13A_ENST00000550896.1_Missense_Mutation_p.D155N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	155					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACTTCATCCTGGTCCCGC	0.522000													4	48					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99436796	99436796	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99436796G>A	ENST00000354829.2	+	3	321		c.e3+1		CYP3A43_ENST00000222382.5_Splice_Site|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000421837.2_Splice_Site|CYP3A43_ENST00000312017.5_Splice_Site|CYP3A43_ENST00000417625.1_Splice_Site|CYP3A43_ENST00000342499.4_Splice_Site	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAATGTGGGGGTGAGTATTCT	0.368000													6	113					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121500260	121500260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:121500260G>A	ENST00000260197.7	+	48	6762	c.6633G>A	c.(6631-6633)atG>atA	p.M2211I	SORL1_ENST00000534286.1_Missense_Mutation_p.M1121I|SORL1_ENST00000525532.1_Missense_Mutation_p.M1155I|SORL1_ENST00000527934.1_Missense_Mutation_p.M826I|SORL1_ENST00000532694.1_Missense_Mutation_p.M1057I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2211					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACGTCCCCATGGTGATAGCCT	0.383000													10	76					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871891	51871891	+	Missense_Mutation	SNP	G	G	A	rs141129077		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:51871891G>A	ENST00000371497.5	+	2	2781	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	TSHZ2_ENST00000329613.6_Missense_Mutation_p.D629N|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D629N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	632					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGTGAGGGCGATTCTTTCCG	0.512000													11	81					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91779569	91779569	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:91779569C>T	ENST00000370425.3	-	29	3287	c.3189G>A	c.(3187-3189)gtG>gtA	p.V1063V	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.V742V|HFM1_ENST00000294696.5_Silent_p.V295V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1063	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GAGCTCTTTTCACAGCAATCT	0.279000													8	122					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31215708	31215708	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31215708G>A	ENST00000349752.5	-	2	934	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	GALNT14_ENST00000356174.3_Silent_p.L99L|GALNT14_ENST00000420311.2_Silent_p.L64L|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Silent_p.L79L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	99						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AAGTACCTCAGATGGCGAGTG	0.562000													12	212					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245703	6245703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6245703G>A	ENST00000265978.4	-	2	402	c.44C>T	c.(43-45)cCt>cTt	p.P15L	FAM160A2_ENST00000449352.2_Missense_Mutation_p.P15L|FAM160A2_ENST00000524416.1_Missense_Mutation_p.P15L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	15					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACGGTGCCCAGGGCCCCGGGA	0.597000													9	77					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975996	20975996	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20975996G>A	ENST00000261383.3	-	53	9209	c.9210C>T	c.(9208-9210)atC>atT	p.I3070I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3070	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGATACAATGATGCCATTGT	0.498000													7	59					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231452	40231452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:40231452C>T	ENST00000302541.6	+	10	1505	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.S299F|MYRIP_ENST00000425621.1_Missense_Mutation_p.S388F|MYRIP_ENST00000444716.1_Missense_Mutation_p.S388F|MYRIP_ENST00000539167.1_Missense_Mutation_p.S201F	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	388	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGTGTGGCATCTGCCTACGAT	0.637000													10	58					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58021521	58021521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:58021521C>T	ENST00000341156.4	-	10	1848	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.E367K	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	422					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGACGAGCTCGTGGTGGAAG	0.677000													3	13					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863071	5863071	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5863071G>A	ENST00000329322.5	-	1	56	c.57C>T	c.(55-57)atC>atT	p.I19I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.I23I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCCCTGGGATACCCAGCA	0.418000													7	67					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25836914	25836914	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25836914G>A	ENST00000399878.3	-	3	887	c.765C>T	c.(763-765)gcC>gcT	p.A255A	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Silent_p.A102A|SEL1L3_ENST00000264868.5_Silent_p.A220A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	255						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTCCACTGGAGGCATAAGGAA	0.488000													5	93					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7604846	7604846	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7604846C>T	ENST00000316024.5	+	5	3149	c.801C>T	c.(799-801)tcC>tcT	p.S267S	WRAP53_ENST00000431639.2_Silent_p.S267S|WRAP53_ENST00000396463.2_Silent_p.S267S|WRAP53_ENST00000457584.2_Silent_p.S267S|WRAP53_ENST00000534050.1_Silent_p.S234S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	267					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCCGGGCTTCCTTTCGCGCCT	0.607000													13	151					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119567939	119567939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:119567939G>A	ENST00000313400.4	-	13	2468	c.2368C>T	c.(2368-2370)Caa>Taa	p.Q790*	ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q786*|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Q739*|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	790						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTGGCCTTGGTTCACATGC	0.498000													19	104					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122765624	122765624	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:122765624A>G	ENST00000194130.2	-	11	1278	c.1240_splice	c.e11+1	p.I413_splice	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	413						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATACTCAACCAATTTCTCCTG	0.358000													17	67					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28984712	28984712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:28984712C>T	ENST00000524189.1	-	25	3187	c.3149G>A	c.(3148-3150)tGt>tAt	p.C1050Y	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1050					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGACAGTATACATTCTTCCAT	0.458000													10	93					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670258	99670258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:99670258G>A	ENST00000336292.6	+	5	1810	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.D279N|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.D564N	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	565	Tail.			K -> N (in Ref. 1; CAC83858/CAC83859).	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TAAGGAGAAGGACTCACCGAA	0.498000													4	35					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12157500	12157500	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:12157500T>A	ENST00000602107.1	-	3	219	c.220A>T	c.(220-222)Aat>Tat	p.N74Y	ZNF878_ENST00000547628.1_Missense_Mutation_p.N27Y|CTD-2006C1.10_ENST00000547473.1_Missense_Mutation_p.N27Y			C9JN71	ZN878_HUMAN	zinc finger protein 878	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTGTAGAGATTTTTCTGGGAA	0.473000													8	159					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172013287	172013287	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:172013287A>G	ENST00000336824.4	+	8	1083	c.984A>G	c.(982-984)aaA>aaG	p.K328K	FNDC3B_ENST00000415807.2_Silent_p.K328K|FNDC3B_ENST00000416957.1_Silent_p.K328K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	328	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGATGGAAAATACAAGATAA	0.428000													11	78					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17518322	17518322	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:17518322C>T	ENST00000005226.7	-	25	2528	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	USH1C_ENST00000318024.4_Silent_p.K543K|USH1C_ENST00000527020.1_Silent_p.K524K|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Silent_p.K512K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	543					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGTCATACTCCTTTGGGGGGC	0.582000													7	100					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24416704	24416704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24416704G>A	ENST00000378386.3	+	7	892	c.799G>A	c.(799-801)Gag>Aag	p.E267K	MRS2_ENST00000443868.2_Missense_Mutation_p.E270K|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.E267K|MRS2_ENST00000535061.1_Missense_Mutation_p.E217K|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	267					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTTGCTAGAAGAGCTCTGTGT	0.308000													17	165					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440137	124440137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124440137G>A	ENST00000284287.3	+	1	245	c.173G>A	c.(172-174)gGg>gAg	p.G58E		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACCATCGTGGGGAACCTGGGC	0.502000													8	72					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555576	102555576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:102555576C>T	ENST00000251808.3	+	2	466	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GRHL2_ENST00000395927.1_Missense_Mutation_p.P27L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	43	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGGAGAATCCCCTGACAGCA	0.542000													8	96					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046244	1046244	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1046244C>T	ENST00000263094.6	+	13	1692	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ABCA7_ENST00000435683.2_Silent_p.G349G|ABCA7_ENST00000433129.1_Silent_p.G487G|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	487					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACCCTGGCCCAGCCGCGG	0.657000													8	202					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56703300	56703300	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56703300C>T	ENST00000586855.2	-	3	820	c.507G>A	c.(505-507)gtG>gtA	p.V169V	ZSCAN5B_ENST00000358992.3_Silent_p.V169V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCATCTGGTTCACAGAGGAGG	0.602000													9	64					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131502360	131502360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131502360G>A	ENST00000291900.2	-	13	2298	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	631					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGCATTGTAGGAAACCTCGAT	0.582000													3	20					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71501554	71501554	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71501554C>T	ENST00000396073.3	+	7	758	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	159					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCTAGGCATTCCCACCATTTG	0.338000													8	159					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53307360	53307360	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:53307360G>A	ENST00000448904.2	-	3	458	c.348C>T	c.(346-348)ttC>ttT	p.F116F	LECT1_ENST00000377962.3_Silent_p.F116F	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	116	BRICHOS.		F -> L (in dbSNP:rs3742298).		cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTACATTCTGGAAATCATTAA	0.408000													11	142					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814029	137814029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:137814029G>A	ENST00000409968.1	+	3	357	c.179G>A	c.(178-180)gGa>gAa	p.G60E	THSD7B_ENST00000272643.3_Missense_Mutation_p.G60E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G29E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTCCCGGAGGAGTCCAGAGT	0.493000													4	37					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66506047	66506047	+	Silent	SNP	G	G	A	rs147553785		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:66506047G>A	ENST00000360242.5	+	3	828	c.711G>A	c.(709-711)acG>acA	p.T237T	CCDC102B_ENST00000584156.1_Silent_p.T237T|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Silent_p.T237T|CCDC102B_ENST00000358653.5_Silent_p.T237T	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	237										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACGGTGAAACGAAAACTGGGC	0.373000													8	66					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180011162	180011162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:180011162G>A	ENST00000428443.3	-	8	920	c.604C>T	c.(604-606)Cca>Tca	p.P202S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	202					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAACCGATGGAAGAAAGTTT	0.289000													4	77					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079402	122079402	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:122079402C>T	ENST00000330079.7	+	2	958	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	253				V -> F (in Ref. 2; BAB55068).	platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TTATCGTCTTCGCCGTCCACT	0.612000													11	83					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097505	123097505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123097505G>A	ENST00000466202.1	-	12	2699	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.S708F			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	708										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTTCCAGGGGGACCACTCCAG	0.453000													7	198					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034584	91034584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:91034584C>T	ENST00000268182.5	+	34	4392	c.4268C>T	c.(4267-4269)gCc>gTc	p.A1423V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A851V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1423	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATCAGAGAGCCATGCAGAGA	0.403000													5	31					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912697	94912697	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94912697C>T	ENST00000334708.3	-	3	952	c.888G>A	c.(886-888)ctG>ctA	p.L296L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	296					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCCATTTTCTCAGGGTCTGTG	0.562000													5	102					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938673	89938673	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:89938673G>A	ENST00000405460.2	+	13	2464	c.2367_splice	c.e13-1	p.E790_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	790					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)		GTTTTTAAAGGAAGGAGAATC	0.373000													7	78					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694441	6694441	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6694441C>T	ENST00000245907.6	-	24	3247		c.e24+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGGGAGCCCACCCTTCTTGAT	0.627000													6	56					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53011862	53011862	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53011862C>T	ENST00000305748.3	-	1	481	c.447_splice	c.e1+1	p.K149_splice		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	149	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAAGACCCACCTTGTCAATGA	0.527000													10	136					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028737	100028737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100028737C>T	ENST00000310512.2	+	1	1484	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	366							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGCAAACGTCGCAGGACTTC	0.637000													9	224					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997280	115997280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:115997280G>A	ENST00000264363.2	-	2	1591	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	305	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L305F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGTCCACAAGGATGTACCTG	0.403000													8	88					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477266	128477266	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128477266C>T	ENST00000325888.8	+	3	915	c.654C>T	c.(652-654)gcC>gcT	p.A218A	FLNC_ENST00000346177.6_Silent_p.A218A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	218	Actin-binding.|CH 2.			A -> S (in Ref. 1; AAD12245 and 2; AAF68195).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGAGAACGCCCGGGAGGCCA	0.701000													3	30					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509215	110509215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110509215G>A	ENST00000378402.5	+	64	10499	c.10395G>A	c.(10393-10395)atG>atA	p.M3465I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3465					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)			GGATCTATATGAACCAAGATG	0.378000										HNSCC(38;0.096)			7	77					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576904	28576904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28576904C>T	ENST00000434452.1	-	15	2500	c.2346G>A	c.(2344-2346)atG>atA	p.M782I	DSC3_ENST00000360428.4_Missense_Mutation_p.M782I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	782					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCCTCCTTTCATCATTTCAA	0.498000													3	33					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126751236	126751236	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:126751236C>T	ENST00000251772.4	+	29	5238	c.5169C>T	c.(5167-5169)ccC>ccT	p.P1723P	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Silent_p.P1746P			Q9UIW2	PLXA1_HUMAN	plexin A1	1746					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCAGCCTGCCCCTGCGCTTCT	0.602000													10	97					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908539	164908539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164908539C>T	ENST00000475390.1	-	2	523	c.80G>A	c.(79-81)tGg>tAg	p.W27*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.W27*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	27						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGGGGTAGTCCATCCTAGAGC	0.413000										HNSCC(40;0.11)			5	85					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77327087	77327087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77327087G>A	ENST00000393774.3	+	11	1280	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	386										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGTGTATGCCGTTCACCCGCA	0.532000													9	100					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680486	48680486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48680486G>A	ENST00000352832.5	+	20	4398	c.4026G>A	c.(4024-4026)atG>atA	p.M1342I	CACNA1G_ENST00000505165.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.M1365I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.M1342I|CACNA1G_ENST00000359106.5_Missense_Mutation_p.M1365I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.M1365I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.M1342I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.M1342I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.M1342I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.M1365I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.M1342I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.M1365I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.M1342I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.M1342I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.M1365I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.M1365I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1365					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGTCCATGGTCTCTGACA	0.642000													7	79					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095028	143095028	+	Missense_Mutation	SNP	G	G	A	rs142265364		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143095028G>A	ENST00000275815.3	-	8	1686	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	534	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGGCTGGTCCGAAACTCATGA	0.562000													10	99					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113146154	113146154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:113146154C>T	ENST00000393845.2	-	3	199	c.133G>A	c.(133-135)Gat>Aat	p.D45N	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.D45N	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	45										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCTGTGTCATCTTCTAAAAAT	0.299000													3	28					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692167	69692167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:69692167G>A	ENST00000265403.7	+	4	1066	c.1039G>A	c.(1039-1041)Ggt>Agt	p.G347S	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G263S	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	347					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGATGCCTTAGGTCTCAATAC	0.378000													9	89					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152579986	152579986	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152579986T>C	ENST00000397345.3	-	9	829	c.627A>G	c.(625-627)gaA>gaG	p.E209E	NEB_ENST00000604864.1_Silent_p.E209E|NEB_ENST00000172853.10_Silent_p.E209E|NEB_ENST00000427231.2_Silent_p.E209E|NEB_ENST00000603639.1_Silent_p.E209E|NEB_ENST00000409198.1_Silent_p.E209E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	209					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCCCAGTCTTCAGTGTACA	0.393000													2	9					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912840	94912840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94912840C>T	ENST00000334708.3	-	3	809	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	249					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGTGCATTTCCTTTTGGTGC	0.527000													9	91					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279916	47279916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47279916G>A	ENST00000271153.4	+	7	844	c.808G>A	c.(808-810)Gat>Aat	p.D270N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.D108N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D256N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D271N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGCCCTGCAGGATGAGAAGGT	0.577000													3	55					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35289167	35289167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:35289167G>A	ENST00000316637.5	+	11	1881	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	DEF6_ENST00000542066.1_Missense_Mutation_p.D371N	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	626						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGATAAACTGGATCCAGCACC	0.572000													7	68					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457101	107457101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107457101G>A	ENST00000318763.5	+	1	442	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTCTGCAGATGGTTGTGTCCC	0.483000													20	154					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77353455	77353455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77353455C>T	ENST00000451710.3	-	35	5893	c.5656G>A	c.(5656-5658)Gag>Aag	p.E1886K	TRPM6_ENST00000376864.4_Missense_Mutation_p.E1886K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1877K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E837K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1882K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E719K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1877K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1882	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCCGGAACTCCCCTGTCATA	0.463000													4	54					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101740241	101740241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101740241G>A	ENST00000261637.4	+	38	4933	c.4759G>A	c.(4759-4761)Gca>Aca	p.A1587T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1587					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCACAGAAGAGCAAGAGCCTT	0.358000													5	54					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11354311	11354311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:11354311G>A	ENST00000227756.4	-	8	1757	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCACCGGAAGGTCTTGCACTG	0.542000													10	86					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29637977	29637977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:29637977C>T	ENST00000373779.3	+	20	2996	c.2867C>T	c.(2866-2868)cCt>cTt	p.P956L	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.P962L|PTPRU_ENST00000356870.3_Missense_Mutation_p.P962L|PTPRU_ENST00000345512.3_Missense_Mutation_p.P966L|PTPRU_ENST00000323874.8_Missense_Mutation_p.P962L|PTPRU_ENST00000428026.2_Missense_Mutation_p.P956L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	966	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGCCGAAGCCTGAGATGGTC	0.617000													9	117					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62518589	62518589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:62518589G>A	ENST00000383710.4	-	13	2597	c.2248C>T	c.(2248-2250)Cac>Tac	p.H750Y	CADPS_ENST00000283269.9_Missense_Mutation_p.H750Y|CADPS_ENST00000357948.3_Missense_Mutation_p.H733Y	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	750					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGCTGTAGTGAAGAAGGGTG	0.532000													4	52					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929162	45929162	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:45929162G>A	ENST00000323084.4	-	10	1739	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	TSPEAR_ENST00000397916.1_Silent_p.S490S|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	558					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGATGACATAGGAATCATTCT	0.547000													8	63					0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2944067	2944067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:2944067C>T	ENST00000337508.4	-	1	123	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	28					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCTGCTTCTTCCTGCCTGTCT	0.607000													6	57					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148676	62148676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:62148676C>T	ENST00000416284.3	-	3	1820	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R79Q|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGAGCAGCTCGCGTGGTGCC	0.502000													5	39					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111474497	111474497	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:111474497A>G	ENST00000265162.5	+	18	2870	c.2528A>G	c.(2527-2529)aAc>aGc	p.N843S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	843					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAGGACACGAACCTTATTAAA	0.363000													5	76					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201627	140201627	+	Silent	SNP	C	C	T	rs148967528	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140201627C>T	ENST00000529859.1	+	1	267	c.267C>T	c.(265-267)atC>atT	p.I89I	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.I89I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.I89I|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.627000													13	295					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110240799	110240799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:110240799G>A	ENST00000418703.2	-	3	803	c.709C>T	c.(709-711)Cga>Tga	p.R237*	TRPV4_ENST00000541794.1_Nonsense_Mutation_p.R237*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.R203*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.R237*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.R237*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.R237*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.R237*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.R237*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	237					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCCACCTCGATAGTAGATG	0.607000													3	49					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517365	140517365	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140517365G>A	ENST00000231134.5	+	1	2566	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAATAGGGAAAACTGCTG	0.468000													5	144					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978564	160978564	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:160978564C>T	ENST00000447678.1	-	30	4791	c.4671G>A	c.(4669-4671)ggG>ggA	p.G1557G	LPA_ENST00000316300.5_Silent_p.G1557G	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4065	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGGTTGTTTCCCAGAATCTG	0.507000													10	85					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328297	80328297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:80328297C>T	ENST00000358842.3	-	1	1075	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	353					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATAAGAAGTTCCTACTTCTTT	0.443000													6	94					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64337275	64337275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64337275C>T	ENST00000301891.4	+	9	1908	c.1534C>T	c.(1534-1536)Ctc>Ttc	p.L512F	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L404F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	512					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCTGTTCTTCCTCCCGGAGAC	0.622000													10	148					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951218	119951218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:119951218G>A	ENST00000307142.4	+	4	1484	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E430K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E430K|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	430						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGTGACAAGGAGGATACATG	0.493000													6	89					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923450	226923450	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:226923450G>A	ENST00000429204.1	-	2	2037	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	ITPKB_ENST00000272117.3_Silent_p.I570I|ITPKB_ENST00000366784.1_Silent_p.I570I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	570							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.I96I(1)|p.I570I(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCTGTAATGATGACAGCAG	0.612000													9	37					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49660530	49660530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:49660530C>T	ENST00000339139.4	-	10	924	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	230						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCACTTTTCCTTGAGTAAC	0.393000													4	51					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745135	172745135	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:172745135C>T	ENST00000265087.4	-	4	1933	c.624G>A	c.(622-624)ttG>ttA	p.L208L		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	208					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCAGAAGCTCAAGATGGAGC	0.642000													3	33					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076818	34076818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34076818C>T	ENST00000373381.4	-	41	6342	c.6166G>A	c.(6166-6168)Gag>Aag	p.E2056K	CSMD2_ENST00000373388.2_Missense_Mutation_p.E155K|CSMD2_ENST00000373380.1_Missense_Mutation_p.E929K|CSMD2_ENST00000373377.1_Missense_Mutation_p.E155K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2016	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTTGGGCTCGGTGGAGAAG	0.557000													5	56					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24905653	24905653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:24905653G>A	ENST00000251343.5	+	7	1884	c.1745G>A	c.(1744-1746)cGa>cAa	p.R582Q	KHNYN_ENST00000553935.1_Missense_Mutation_p.R582Q|KHNYN_ENST00000554268.1_Missense_Mutation_p.R27Q|KHNYN_ENST00000556842.1_Missense_Mutation_p.R582Q			O15037	KHNYN_HUMAN	KH and NYN domain containing	582										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CCACTGGGGCGAAACGGCCCC	0.567000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	69					0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6760488	6760488	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6760488A>G	ENST00000341550.4	-	7	754		c.e7+1		ING4_ENST00000486287.1_Splice_Site|ING4_ENST00000412586.2_Splice_Site|ING4_ENST00000446105.2_Splice_Site|ING4_ENST00000444704.2_Splice_Site|ING4_ENST00000396807.4_Splice_Site|ING4_ENST00000423703.2_Splice_Site			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4						apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CCTGCCACTTACCATTTCCCC	0.522000													13	92					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666116	133666116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:133666116C>T	ENST00000310926.4	-	9	1552	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.E351K	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	427					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGGTAGACTTCGGCCACAGTT	0.498000													9	59					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155233163	155233163	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:155233163C>T	ENST00000424344.3	+	4	496	c.129C>T	c.(127-129)atC>atT	p.I43I	IL9R_ENST00000244174.5_Silent_p.I64I|IL9R_ENST00000369423.2_Silent_p.I111I|IL9R_ENST00000540897.1_Silent_p.I101I			Q01113	IL9R_HUMAN	interleukin 9 receptor	64					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCTCAGGATCGATTGCCACT	0.597000													8	122					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111435035	111435035	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:111435035C>T	ENST00000271324.5	+	3	244	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CD53_ENST00000429072.2_Silent_p.F44F	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	44					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		GAGTGCTCTTCCATAACCTCC	0.507000													12	85					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183707070	183707070	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:183707070G>A	ENST00000334444.6	-	3	471	c.231C>T	c.(229-231)ccC>ccT	p.P77P	ABCC5_ENST00000382494.2_Silent_p.P77P|ABCC5_ENST00000427120.2_Silent_p.P77P|ABCC5_ENST00000392579.2_Silent_p.P77P|ABCC5_ENST00000265586.6_Silent_p.P77P	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	77						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTTTCCCTTGGGATGCTCCT	0.532000													7	54					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57591086	57591086	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:57591086G>A	ENST00000243077.3	+	57	9547	c.9081G>A	c.(9079-9081)gaG>gaA	p.E3027E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3027					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCAGACGAGGAACCGTTTC	0.592000													17	285					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920664	155920664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155920664G>A	ENST00000368316.1	-	24	3045	c.2575C>T	c.(2575-2577)Ctc>Ttc	p.L859F	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.L888F|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.L887F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.L859F|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.L886F			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	887					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGCGGGGAGGCTGCGCCGC	0.672000													6	131					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220088625	220088625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:220088625C>T	ENST00000409618.1	-	9	1824	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	ATG9A_ENST00000361242.4_Missense_Mutation_p.R462Q|ATG9A_ENST00000396761.2_Missense_Mutation_p.R462Q|ATG9A_ENST00000409422.1_Missense_Mutation_p.R401Q			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	462					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAACTCGTCCCGGGTCTGCGA	0.612000													12	158					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347208	57347208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:57347208G>A	ENST00000361249.3	+	5	651	c.555G>A	c.(553-555)tgG>tgA	p.W185*		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	185	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGGGGAATGGAGGGAGCTTC	0.458000													7	83					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750067	141750067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141750067G>A	ENST00000475668.2	+	23	2674	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	MGAM_ENST00000549489.2_Missense_Mutation_p.E874K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	874	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTTTATGTGAGTTTTCTGT	0.403000													7	117					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783938	140783938	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140783938C>T	ENST00000573521.1	+	1	1419	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTTCTCCGTGATTGCCT	0.468000													4	61					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376106	18376106	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18376106C>T	ENST00000392413.3	-	3	2459	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	KIAA1683_ENST00000600359.2_Silent_p.P702P|KIAA1683_ENST00000600328.2_Silent_p.P748P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	748						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGTCTGTGATCGGCTGCCCCC	0.607000													4	134					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:86468384G>A	ENST00000361669.2	+	4	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.M390I|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.M110I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	518					synaptic transmission	integral to plasma membrane		p.M518I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAATGAAATGAAGAATATGC	0.522000													13	95					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73951939	73951939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:73951939G>A	ENST00000537812.1	-	5	1162	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	ACOX1_ENST00000293217.5_Missense_Mutation_p.R210C|ACOX1_ENST00000301608.4_Missense_Mutation_p.R210C	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	210					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CCGATTTCACGAATAGGTACG	0.403000													25	250					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967025	7967025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7967025C>T	ENST00000543909.1	-	16	2209	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	SLC2A14_ENST00000539924.1_Missense_Mutation_p.D499N|SLC2A14_ENST00000340749.5_Missense_Mutation_p.D461N|SLC2A14_ENST00000431042.2_Missense_Mutation_p.D461N|SLC2A14_ENST00000542505.1_Missense_Mutation_p.D125N|SLC2A14_ENST00000535295.1_Missense_Mutation_p.D375N|SLC2A14_ENST00000542546.1_Missense_Mutation_p.D375N|SLC2A14_ENST00000396589.2_Missense_Mutation_p.D484N			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	484					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGTGTGATATCCTCAAAAGTC	0.517000													5	73					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559373	7559373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7559373C>T	ENST00000313599.3	-	5	899	c.842G>A	c.(841-843)gGa>gAa	p.G281E	CD163L1_ENST00000396630.1_Missense_Mutation_p.G281E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G291E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	281	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCCACCTTCCTTGGATTTT	0.478000													5	80					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189429	100189429	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100189429C>T	ENST00000241071.6	+	4	784	c.462C>T	c.(460-462)acC>acT	p.T154T	FBXO24_ENST00000360609.2_Silent_p.T140T|FBXO24_ENST00000465843.1_Silent_p.T140T|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.T142T|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.T192T	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	154						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACGTGGGGACCCTCTTCTTCC	0.587000													9	137					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1313163	1313163	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:1313163G>A	ENST00000381312.1	-	4	1504	c.1179C>T	c.(1177-1179)atC>atT	p.I393I		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	393					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGTCATGACGATTCCTGCCA	0.532000													4	21					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301464	72301464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72301464G>A	ENST00000579490.1	+	8	1400	c.1265G>A	c.(1264-1266)gGc>gAc	p.G422D	DNAI2_ENST00000307504.5_Missense_Mutation_p.G222D|DNAI2_ENST00000582036.1_Missense_Mutation_p.G365D|DNAI2_ENST00000446837.2_Missense_Mutation_p.G365D|DNAI2_ENST00000311014.6_Missense_Mutation_p.G365D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	365					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCCATCATGGCCCCATCTAC	0.582000									Kartagener syndrome				7	83					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:128505667C>T	ENST00000368227.3	-	7	1438	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458000													15	116					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178942523	178942523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:178942523G>A	ENST00000263967.3	+	16	2487	c.2330G>A	c.(2329-2331)aGg>aAg	p.R777K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	777					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R777M(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCTGCAAAAAGGCCACTGTGG	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	57					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138547	18138547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:18138547C>T	ENST00000316843.4	+	10	1301	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	402					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCCACGTGGCCAGTGTCCCC	0.682000													4	35					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336347	31336347	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31336347C>T	ENST00000544665.3	+	19	2432	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	ITGAM_ENST00000287497.8_Silent_p.F786F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	786					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTTCAGTTTCATGAGGTGAG	0.478000													5	33					0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72057476	72057476	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72057476C>T	ENST00000572887.1	+	8	1248	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	DHODH_ENST00000219240.4_Silent_p.T359T			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	359					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CGGCCCTCACCTTCTGGGGGC	0.607000													8	66					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98906990	98906990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98906990G>A	ENST00000477737.1	+	23	3266	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1021										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATTGCAAGGAAATCCAACA	0.353000													3	33					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666657	69666657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:69666657G>A	ENST00000370598.1	+	8	2302	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	494	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAATGTGAAGGAACGGGCGAA	0.473000													10	62					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160458	41160458	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:41160458G>A	ENST00000263413.3	-	11	1734	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.I490I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	490	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAAGTCCACGATGGGGGCAA	0.498000													6	52					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826139	34826139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:34826139C>T	ENST00000192788.5	+	14	2177	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A669V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	669										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTGCATCATGCCTTTCAGATG	0.498000													6	68					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71433891	71433891	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:71433891G>A	ENST00000392650.3	-	8	987	c.987C>T	c.(985-987)ccC>ccT	p.P329P	SDK2_ENST00000388726.3_Silent_p.P329P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	329	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCCTGACAGGGGATGTCCA	0.562000													10	168					0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38349106	38349106	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:38349106C>T	ENST00000249079.2	-	2	307	c.51G>A	c.(49-51)cgG>cgA	p.R17R	C22orf23_ENST00000403305.1_Silent_p.R17R|C22orf23_ENST00000403026.1_Silent_p.R17R|POLR2F_ENST00000484894.1_Intron			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	17										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					TGGGGCGGCGCCGGAACCCAG	0.597000													57	239					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194877306	194877306	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:194877306G>A	ENST00000310380.6	-	3	765	c.657C>T	c.(655-657)atC>atT	p.I219I	XXYLT1_ENST00000355729.4_Silent_p.I16I|XXYLT1_ENST00000429994.1_Silent_p.I73I|XXYLT1_ENST00000437101.1_Silent_p.I16I	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	219						integral to membrane	transferase activity, transferring glycosyl groups										TGATCTGCAGGATCTCTGCGG	0.522000													6	98					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213270	84213270	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:84213270G>A	ENST00000567759.1	-	14	2069	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	TAF1C_ENST00000378541.4_Silent_p.T629T|TAF1C_ENST00000541676.1_Silent_p.T536T|TAF1C_ENST00000341690.6_Silent_p.T535T|TAF1C_ENST00000566732.1_Silent_p.T603T|TAF1C_ENST00000570117.1_Silent_p.T297T	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	629					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TGTCCTGGGAGGTCCAGGAAG	0.667000													4	18					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20180804	20180804	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:20180804G>A	ENST00000524983.2	-	2	690	c.402C>T	c.(400-402)ccC>ccT	p.P134P	DBX1_ENST00000227256.3_Silent_p.P134P			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	134					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGAAGGTCTTGGGAGGGACGC	0.542000													8	118					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38998062	38998062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38998062C>T	ENST00000359357.3	+	91	13621	c.13367C>T	c.(13366-13368)cCc>cTc	p.P4456L	DNAH8_ENST00000441566.1_Missense_Mutation_p.P4420L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACAAGAAACCCAGGCGAACT	0.493000													10	95					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239753	125239753	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125239753G>A	ENST00000259357.2	-	1	482	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACGCACAAGCGATGACCCAGG	0.542000													4	22					0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1549852	1549852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1549852G>A	ENST00000301336.6	-	8	1362	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	364					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTTGCTGGGTGCAGGGCTG	0.597000													27	253					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258545	86258545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:86258545C>T	ENST00000263857.6	-	30	4864	c.4486G>A	c.(4486-4488)Gag>Aag	p.E1496K	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1496					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCATGGCCTCGGGCCCCTGG	0.652000													19	165					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7222444	7222444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7222444G>A	ENST00000575474.1	-	1	49	c.50C>T	c.(49-51)tCc>tTc	p.S17F	NEURL4_ENST00000570460.1_Silent_p.F1179F|NEURL4_ENST00000399464.2_Silent_p.F1203F|NEURL4_ENST00000315614.7_Silent_p.F1201F																							CAGAAGCAGGGAAGTTGAGCC	0.582000													8	54					0	0	1	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214566	3214566	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3214566C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GTGCAGAGTTCCCTATGCTGC	0.572000													6	86					0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68748968	68748968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:68748968G>A	ENST00000252338.4	+	2	1036	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	332						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CGACAATGAGGAAATGGTGTA	0.617000													4	13					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9348939	9348939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:9348939G>A	ENST00000261336.2	-	10	1107	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	PZP_ENST00000381997.2_Missense_Mutation_p.P229L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGCAAAAAAGGGGATTCCTTG	0.418000													8	73					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180973	22180973	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22180973G>A	ENST00000390424.2	+	0	255																											CAGCAGGGACGATACAACATG	0.512000													13	166					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566304	138566304	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138566304G>A	ENST00000440172.1	-	11	4107	c.4059C>T	c.(4057-4059)ttC>ttT	p.F1353F	KIAA1549_ENST00000422774.1_Silent_p.F1353F|KIAA1549_ENST00000242365.4_Silent_p.F1303F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1353						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGCAAAATCGAAGCCCTTCA	0.488000			O	BRAF	pilocytic astrocytoma								4	24					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107361157C>T	ENST00000374779.2	-	1	631	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000													27	123					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473843	53473843	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53473843C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AGGTTTGTTTCCAGCATGCCT	0.383000													8	158					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2381128	2381128	+	Silent	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2381128T>A	ENST00000263092.5	-	3	307	c.180A>T	c.(178-180)ctA>ctT	p.L60L	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	60							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AATCTTCCCTTAGGAGAGTAC	0.393000													17	117					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64749412	64749412	+	Silent	SNP	G	G	A	rs139503857		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64749412G>A	ENST00000557772.1	-	1	291	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	ESR2_ENST00000341099.4_Silent_p.L98L|ESR2_ENST00000358599.5_Silent_p.L98L|ESR2_ENST00000553796.1_Silent_p.L98L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Silent_p.L98L|ESR2_ENST00000267525.6_Silent_p.L98L|ESR2_ENST00000542956.1_Silent_p.L98L|ESR2_ENST00000555278.1_Silent_p.L98L|ESR2_ENST00000554572.1_Silent_p.L98L|ESR2_ENST00000353772.3_Silent_p.L98L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	98	Modulating.				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)	TCCGCATACAGATGTGATAAC	0.493000													6	79					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29234332	29234332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29234332G>A	ENST00000379558.4	+	7	1193	c.842G>A	c.(841-843)gGg>gAg	p.G281E	FAM179A_ENST00000403861.2_Missense_Mutation_p.G281E	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	281							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCTCGGGGGAGTGGGCCT	0.582000													4	46					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026697	37026697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37026697C>T	ENST00000358047.3	+	1	266	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	72								p.R72C(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTTGTTTGTCGCCGTGACGA	0.532000													9	46					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72873292	72873292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:72873292C>T	ENST00000379887.4	+	12	1750	c.1436C>T	c.(1435-1437)gCt>gTt	p.A479V	ARIH1_ENST00000562891.1_Intron	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	479					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TATGTCTTCGCTTTCTACCTC	0.458000													11	107					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651947	11651947	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11651947G>A	ENST00000592923.1	+	0	547				CNN1_ENST00000544952.1_Silent_p.G20G|CNN1_ENST00000535659.2_De_novo_Start_InFrame|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000252456.2_Silent_p.G40G			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle						actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GGATCGAGGGGGTGACAGGCC	0.612000													8	36					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107746315	107746315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107746315C>T	ENST00000388781.3	-	8	900	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	LAMB4_ENST00000388780.3_Missense_Mutation_p.E273K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E273K|LAMB4_ENST00000414450.2_Missense_Mutation_p.E273K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	273	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCGACATTCGCTAGCATGG	0.468000													9	140					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066595	9066595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:9066595C>T	ENST00000382496.5	-	17	2902	c.2237G>A	c.(2236-2238)gGa>gAa	p.G746E		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	746	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTCTGTCTTCCCACTTCCAG	0.542000													12	192					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876902	45876902	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:45876902C>T	ENST00000291592.4	+	2	692	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	125						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		ACAACCGCATCCAGAGGATCC	0.672000													4	63					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125132	71125132	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:71125132C>T	ENST00000299213.8	-	3	805	c.735G>A	c.(733-735)agG>agA	p.R245R		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	245					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTGCTGATCCTCCGGATGT	0.562000													3	29					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232511	71232511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71232511C>T	ENST00000226460.4	+	3	301	c.205C>T	c.(205-207)Cca>Tca	p.P69S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	69	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCCCTTTCTCCACCCTATGG	0.547000													18	154					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204981969	204981969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:204981969G>A	ENST00000367172.4	+	31	4115	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	NFASC_ENST00000360049.4_Missense_Mutation_p.E1085K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1085K|NFASC_ENST00000404907.1_Missense_Mutation_p.E1090K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1173K|NFASC_ENST00000367171.4_Missense_Mutation_p.E1248K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Missense_Mutation_p.E1073K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1156K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1184K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1090K|NFASC_ENST00000367169.4_Missense_Mutation_p.E987K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1140K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1156K			O94856	NFASC_HUMAN	neurofascin	1263					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCCCAAGGAAGAGGATGG	0.542000													4	100					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24202038	24202038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24202038C>T	ENST00000536471.1	-	3	328	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CNR2_ENST00000374472.4_Missense_Mutation_p.D24N			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	24					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATCATGTAATCCTTCATAGGG	0.537000													20	202					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2308916	2308916	+	Missense_Mutation	SNP	C	C	T	rs142429871		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2308916C>T	ENST00000381458.5	+	9	1301	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	413					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGAAGAATTCCGTGAACAGT	0.542000													9	89					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33767741	33767741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33767741C>T	ENST00000285013.6	-	6	2842	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	SLFN13_ENST00000542635.1_Missense_Mutation_p.R856Q|SLFN13_ENST00000534689.1_Missense_Mutation_p.R538Q|SLFN13_ENST00000526861.1_Missense_Mutation_p.R856Q|SLFN13_ENST00000533791.1_Missense_Mutation_p.R856Q|SLFN13_ENST00000360502.2_Missense_Mutation_p.R538Q	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	856						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCTGAGAATCGCCGGACACT	0.493000													19	206					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75440017	75440017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:75440017G>A	ENST00000526712.1	+	4	1360	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	MOGAT2_ENST00000198801.5_Missense_Mutation_p.R278Q			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	278			P -> H (in dbSNP:rs34582952).		glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCCTACCGCCGGCCCATCACC	0.562000													8	108					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785798	111785798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:111785798C>T	ENST00000261726.6	+	22	4284	c.4130C>T	c.(4129-4131)cCt>cTt	p.P1377L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1377	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						CACCCGGACCCTTTAAGTTTT	0.622000													7	139					0	0	1	0	0
RPL24	6152	broad.mit.edu	37	3	101399994	101399994	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:101399994A>T	ENST00000394077.3	-	6	564	c.459T>A	c.(457-459)gtT>gtA	p.V153V	RPL24_ENST00000495401.1_3'UTR	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	153					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						GTTTTCCACCAACTCGGGGAG	0.368000													11	164					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979458	2979458	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2979458C>T	ENST00000396946.4	-	6	1192	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	263					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAACCTGCTCCTTCTTGGGCC	0.507000			Mis		DLBCL								14	181					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596508	24596508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24596508C>T	ENST00000535378.1	-	4	1009	c.367G>A	c.(367-369)Gac>Aac	p.D123N	KIAA0319_ENST00000543707.1_Missense_Mutation_p.D132N|KIAA0319_ENST00000378214.3_Missense_Mutation_p.D132N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D132N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D87N	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	132					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCAGGTGAGTCCCCCCAGATC	0.547000													9	76					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160269009	160269009	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:160269009G>A	ENST00000392783.2	-	14	3009	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	BAZ2B_ENST00000355831.2_Silent_p.I804I|BAZ2B_ENST00000343439.5_Silent_p.I738I|BAZ2B_ENST00000392782.1_Silent_p.I802I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	838	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTGCCCTGATACGAGGAA	0.398000													5	49					0	0	1	0	0
NGB	58157	broad.mit.edu	37	14	77732921	77732921	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77732921C>T	ENST00000298352.4	-	4	788	c.414G>A	c.(412-414)ggG>ggA	p.G138G		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	138	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GCACTACGGCCCCGTAGAGTT	0.627000													6	82					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668687	8668687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8668687C>T	ENST00000270328.4	-	4	783	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E173K|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	173					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCCACTTTCCTCCGGGCTC	0.602000													4	65					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68007774	68007774	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:68007774C>T	ENST00000262210.5	+	6	788	c.757C>T	c.(757-759)Cta>Tta	p.L253L	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	288						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CATTTCCAACCTAAAACATCA	0.373000													6	54					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23235552	23235552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23235552C>T	ENST00000400191.3	+	13	2408	c.2390C>T	c.(2389-2391)gCc>gTc	p.A797V	EPHB2_ENST00000374632.3_Missense_Mutation_p.A798V|EPHB2_ENST00000374627.1_Missense_Mutation_p.A792V|EPHB2_ENST00000374630.3_Missense_Mutation_p.A797V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	797	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCCGGAAGCCATCCAGTAC	0.592000													16	103					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429115	10429115	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10429115C>T	ENST00000245503.5	-	31	4650	c.4266G>A	c.(4264-4266)aaG>aaA	p.K1422K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.K1422K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1422					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGCTTCGTCTTTTCGAGGG	0.517000													13	58					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113480	117113480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117113480G>A	ENST00000310357.3	-	6	2627	c.2606C>T	c.(2605-2607)gCt>gTt	p.A869V	GPRC6A_ENST00000530250.1_Missense_Mutation_p.A694V|GPRC6A_ENST00000368549.3_Missense_Mutation_p.A798V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	869					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTCCAGTGAAGCAGGACTCAG	0.453000													3	57					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885209	39885209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:39885209C>T	ENST00000260356.5	+	18	2941	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	926					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGGCGATGGTCGAGGTGATGC	0.433000													5	41					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14689560	14689560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:14689560C>T	ENST00000240617.5	-	5	1295	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	215					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTAGGCTGCCGTTTTTTGTG	0.448000													11	92					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502226	70502226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:70502226G>A	ENST00000310961.5	+	21	2526	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.G698E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	698						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCTTCCTCAGGATCCTCTAAT	0.453000													11	80					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833491	43833491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:43833491C>T	ENST00000389420.3	-	18	2526	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E843K|ADAMTS20_ENST00000395541.2_5'UTR	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	843	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACTCCTCTCTTCCAAAGGG	0.393000													6	55					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645648	236645648	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:236645648T>C	ENST00000359362.5	+	6	531	c.317T>C	c.(316-318)cTc>cCc	p.L106P	EDARADD_ENST00000334232.4_Missense_Mutation_p.L116P	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	116					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTGACTTGCTCAATGATCAG	0.483000													6	106					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	153993991	153993991	+	Missense_Mutation	SNP	G	G	C	rs147970714	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:153993991G>C	ENST00000496811.1	-	25	3076	c.2996C>G	c.(2995-2997)cCg>cGg	p.P999R	DHX36_ENST00000308361.6_Missense_Mutation_p.P970R|DHX36_ENST00000544526.1_Missense_Mutation_p.P985R|DHX36_ENST00000329463.5_Missense_Mutation_p.P985R	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	999						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAATCGTGGCGGAAAGTTCCT	0.438000													6	67					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965092	7965092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7965092G>A	ENST00000539278.1	-	1	3335	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	LRRC8E_ENST00000306708.6_Missense_Mutation_p.R562K																							CACCTGCAGAGGCTCAGCCTG	0.662000													4	63					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789230	111789230	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:111789230C>T	ENST00000389811.4	+	16	1622	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	ACOXL_ENST00000439055.1_Silent_p.F436F			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	466					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGGATTTTTTCCATGCCTGGA	0.458000													5	83					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308786	46308786	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46308786G>A	ENST00000397850.2	-	15	2354	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	ITGB2_ENST00000302347.5_Silent_p.F634F|ITGB2_ENST00000355153.4_Silent_p.F634F|ITGB2_ENST00000397854.3_Silent_p.F577F|ITGB2_ENST00000397857.1_Silent_p.F634F|ITGB2_ENST00000397852.1_Silent_p.F634F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	634					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCCCTTTTCGAACTTCAGGC	0.677000													5	41					0	0	1	0	0
FAM58A	92002	broad.mit.edu	37	X	152860004	152860004	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:152860004C>T	ENST00000406277.2	-	5	526		c.e5+1		FAM58A_ENST00000370175.4_Splice_Site	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATGTACCTTGTGTGGA	0.542000													18	66					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129507	10129507	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10129507C>T	ENST00000591589.1	+	3	612	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RDH8_ENST00000171214.1_Silent_p.L121L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	121					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTGTCCGTCTCGTCAAAGCTG	0.592000													11	105					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52193349	52193349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:52193349C>T	ENST00000371471.2	-	4	2379	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	ZNF217_ENST00000302342.3_Missense_Mutation_p.D652N			O75362	ZN217_HUMAN	zinc finger protein 217	652					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTACTGCCATCCGGAGGAGGA	0.488000													19	182					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89254618	89254618	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:89254618G>A	ENST00000289746.2	+	7	968	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	301	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCACCATCCTGGAAGGCGACC	0.642000													3	29					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350551	50350551	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:50350551A>G	ENST00000376020.2	-	6	3616	c.3591T>C	c.(3589-3591)ggT>ggC	p.G1197G	SHROOM4_ENST00000460112.3_Silent_p.G1081G|SHROOM4_ENST00000289292.7_Silent_p.G1197G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1197					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACTTTGTGAACCCTGTCTCG	0.537000													4	37					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860447	26860447	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:26860447G>A	ENST00000398145.2	-	11	1765	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	HPS4_ENST00000398141.1_Silent_p.A396A|HPS4_ENST00000336873.5_Silent_p.A383A|HPS4_ENST00000402105.3_Silent_p.A378A	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	383					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AATGACCTGAGGCCATTTCCA	0.547000									Hermansky-Pudlak syndrome				7	52					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051441	9051441	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:9051441G>A	ENST00000457346.2	-	19	2567	c.2493C>T	c.(2491-2493)acC>acT	p.T831T	SCUBE2_ENST00000450649.2_Silent_p.T676T|SCUBE2_ENST00000309263.3_Silent_p.T802T|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.T774T			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	802	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTTTACACTGGGTTATGTTTG	0.483000													14	191					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973884	54973884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54973884C>T	ENST00000333834.4	-	1	1010	c.892G>A	c.(892-894)Ggt>Agt	p.G298S		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	298					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCCGCAGGACCCCACTCGGCT	0.667000													3	42					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492524	74492524	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:74492524A>G	ENST00000354431.4	-	8	2039	c.1848T>C	c.(1846-1848)ttT>ttC	p.F616F	LRRIQ3_ENST00000395089.1_Silent_p.F616F	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	616										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						TGGGAACTTTAAAGTCTAAAT	0.284000													4	22					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55623892	55623892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55623892C>T	ENST00000370830.3	-	6	1824	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	376					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCAGCGTATCCTTCTGGTGCT	0.343000													6	75					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464520	247464520	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247464520G>A	ENST00000294753.4	-	9	1529	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ZNF496_ENST00000366498.2_Silent_p.I391I|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	355					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)			TGGAGAGAACGATCTCGATGG	0.627000													13	89					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157405921	157405921	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:157405921C>T	ENST00000346085.5	+	6	2164	c.2163C>T	c.(2161-2163)tcC>tcT	p.S721S	ARID1B_ENST00000275248.4_Silent_p.S650S|ARID1B_ENST00000367148.1_Silent_p.S708S|ARID1B_ENST00000350026.5_Silent_p.S708S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	708	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCCTTTCTCCCCACATGCGT	0.617000													10	112					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2057203	2057203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:2057203G>A	ENST00000262113.4	+	25	3202	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E446K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1021					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTGAAATCGGAATTAGCTTA	0.413000													7	45					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195499	3195499	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3195499G>A	ENST00000323404.1	-	1	377	c.378C>T	c.(376-378)ttC>ttT	p.F126F	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGATGGCCAGGAATCGGTCAT	0.597000													11	110					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559749	33559749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:33559749C>T	ENST00000228567.3	-	3	1348	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.W170*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	351						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AATATCTTTCCATACTGTGGC	0.338000													6	57					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97981349	97981349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:97981349G>A	ENST00000370192.3	-	13	1773	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	558					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCGAATCATTGATGTGCTGGT	0.398000													6	50					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267137	72267137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:72267137C>T	ENST00000340726.3	-	3	643	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.E2K|EYA1_ENST00000388742.4_Missense_Mutation_p.E2K|EYA1_ENST00000303824.7_Missense_Mutation_p.E2K|EYA1_ENST00000419131.1_Missense_Mutation_p.E2K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	2					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCCTGCATTTCCATAGACCTA	0.428000													11	159					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721516	141721516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141721516G>A	ENST00000475668.2	+	6	743	c.689G>A	c.(688-690)aGa>aAa	p.R230K	MGAM_ENST00000549489.2_Missense_Mutation_p.R230K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	230	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAGTGACCAGAAGAAGCAAC	0.458000													14	75					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342471	40342471	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:40342471G>A	ENST00000406785.1	-	8	2925	c.2736C>T	c.(2734-2736)tcC>tcT	p.S912S	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.S940S|SLC8A1_ENST00000542756.1_Silent_p.S943S|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.S948S|SLC8A1_ENST00000405901.3_Silent_p.S943S|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.S912S|SLC8A1_ENST00000405269.1_Silent_p.S912S|SLC8A1_ENST00000402441.1_Silent_p.S912S|SLC8A1_ENST00000403092.1_Silent_p.S948S|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.S912S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	948					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAAGAGGCAGGATGTGAGGA	0.512000													12	80					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331809	107331809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107331809G>A	ENST00000335040.1	+	1	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GATGGCACTGGACCGCTATGT	0.522000													12	60					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419612	53419612	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:53419612G>A	ENST00000377942.3	-	2	2990	c.2787C>T	c.(2785-2787)tcC>tcT	p.S929S	PCDH8_ENST00000338862.4_Silent_p.S832S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	929					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCTGATGTCGGAATCGCTGT	0.522000													11	105					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442555	138442555	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138442555G>A	ENST00000344876.4	-	4	3422	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	PCDH18_ENST00000412923.2_Silent_p.F1011F|PCDH18_ENST00000507846.1_Silent_p.F791F|PCDH18_ENST00000511115.1_Silent_p.F192F|PCDH18_ENST00000510305.1_Silent_p.F223F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1012	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGAGACGCTGGAACACACTGC	0.532000													7	48					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546417	112546417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:112546417G>A	ENST00000488794.1	-	5	753	c.164C>T	c.(163-165)tCc>tTc	p.S55F	CD200R1L_ENST00000448932.1_Missense_Mutation_p.S55F|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S76F			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	76	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTTTGTGCAGGAAGGCTGGCC	0.418000													8	70					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720015	7720015	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7720015T>C	ENST00000572933.1	+	64	11316	c.9856T>C	c.(9856-9858)Ttg>Ctg	p.L3286L	DNAH2_ENST00000389173.2_Silent_p.L3286L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGTGTCGGGGTTGGCTGGCGA	0.562000													9	98					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146276180	146276180	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:146276180G>A	ENST00000367503.3	-	2	677	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SHPRH_ENST00000275233.7_Silent_p.S93S|SHPRH_ENST00000367505.2_Silent_p.S93S|SHPRH_ENST00000438092.2_Silent_p.S93S	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	93					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGACAAAGGGGAAAAAATAC	0.368000													4	91					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97207282	97207282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:97207282C>T	ENST00000375344.3	+	6	816	c.547C>T	c.(547-549)Ccg>Tcg	p.P183S	HIATL1_ENST00000428393.2_Missense_Mutation_p.P118S	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	183					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TGTCAGCAGCCCGGCCATTGG	0.557000													31	168					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063900	74063900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:74063900G>A	ENST00000370370.3	-	1	118	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	17					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						AGGTCTTCGGGAACTTTCACC	0.582000													6	74					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447627	82447627	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:82447627C>T	ENST00000370728.1	+	21	3882	c.3237C>T	c.(3235-3237)ttC>ttT	p.F1079F	LPHN2_ENST00000370721.1_Silent_p.F1004F|LPHN2_ENST00000359929.3_Silent_p.F1066F|LPHN2_ENST00000370723.1_Silent_p.F1081F|LPHN2_ENST00000370715.1_Silent_p.F1066F|LPHN2_ENST00000370725.1_Silent_p.F1094F|LPHN2_ENST00000394879.1_Silent_p.F1081F|LPHN2_ENST00000370713.1_Silent_p.F1066F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.F1094F|LPHN2_ENST00000370717.2_Silent_p.F1094F|LPHN2_ENST00000335786.5_Silent_p.F1079F|LPHN2_ENST00000370730.1_Silent_p.F1079F|LPHN2_ENST00000319517.6_Silent_p.F1066F|LPHN2_ENST00000370727.1_Silent_p.F1094F			O95490	LPHN2_HUMAN	latrophilin 2	1079					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGGGAGTGTTCATTTTCATCT	0.358000													4	44					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124417957	124417957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:124417957C>T	ENST00000409039.3	+	76	13047	c.13022C>T	c.(13021-13023)gCc>gTc	p.A4341V	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4341					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGTGCAGGCCACCTGCCGG	0.612000													4	49					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038462	75038462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75038462C>T	ENST00000326665.5	-	14	3150	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	978	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGGTTCCTCTCCCCCAAGA	0.527000													10	55					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215814029	215814029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:215814029C>T	ENST00000366943.2	-	68	15225	c.14839G>A	c.(14839-14841)Gtg>Atg	p.V4947M	USH2A_ENST00000307340.3_Missense_Mutation_p.V4947M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4947	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCACACACACCACAGACAAA	0.532000										HNSCC(13;0.011)			6	92					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783937	140783937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140783937C>T	ENST00000573521.1	+	1	1418	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATCTTCTCCGTGATTGCC	0.473000													4	62					0	0	1	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391078	50391078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:50391078C>T	ENST00000418577.1	+	3	1148	c.572C>T	c.(571-573)gCc>gTc	p.A191V	CYB561D2_ENST00000232508.5_Missense_Mutation_p.A191V|CYB561D2_ENST00000425346.1_Missense_Mutation_p.A191V|CYB561D2_ENST00000424512.1_Missense_Mutation_p.A191V|XXcos-LUCA11.5_ENST00000606589.1_Intron			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	191	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTGGTGCAGCCTGGTACCTG	0.552000													29	225					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326684	64326684	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64326684C>T	ENST00000301891.4	+	2	845	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SLC22A11_ENST00000377581.3_Silent_p.S157S|SLC22A11_ENST00000377585.3_Silent_p.S157S|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	157					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGGTGGGCTCCTTTATCTGGG	0.602000													8	74					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552443	43552443	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:43552443G>A	ENST00000220420.5	-	3	250	c.243C>T	c.(241-243)cgC>cgT	p.R81R	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	81					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCTGTGATGGCGTGCCAGGC	0.672000													7	31					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902838	75902838	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:75902838G>A	ENST00000322563.3	-	4	784	c.660C>T	c.(658-660)atC>atT	p.I220I	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	220					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						AGCAGGTGCGGATGGAGCAGG	0.632000													4	61					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071047	70071047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70071047G>A	ENST00000370598.1	+	29	4703	c.3882G>A	c.(3880-3882)atG>atA	p.M1294I	BAI3_ENST00000238918.8_Missense_Mutation_p.M500I|BAI3_ENST00000546190.1_Missense_Mutation_p.M258I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1294					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCTGACATGGACATAGTCC	0.373000													5	41					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45717523	45717523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:45717523C>T	ENST00000297323.7	+	9	1683	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	554					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTTTTTCTACCAACGTTGTC	0.512000													8	120					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052595	141052595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:141052595G>A	ENST00000239440.4	-	7	1143	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	ARAP3_ENST00000508305.1_Missense_Mutation_p.R282C|ARAP3_ENST00000513878.1_Missense_Mutation_p.R22C	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	360	PH 1.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCTCTGTGCGGAACACGAAC	0.602000													9	83					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50255931	50255931	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:50255931T>G	ENST00000338821.5	-	15	1883	c.1619A>C	c.(1618-1620)cAg>cCg	p.Q540P	ATP9A_ENST00000402822.1_Missense_Mutation_p.Q419P|ATP9A_ENST00000311637.5_Missense_Mutation_p.Q404P	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	540					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGGAAGATCTGTAGGATGGT	0.522000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	135					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690065	30690065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30690065G>A	ENST00000215790.7	-	7	904	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S159L|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S254L|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.S121L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	247	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGCAACAGCGAGAAAAGGAT	0.607000													14	134					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39085890	39085890	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:39085890C>T	ENST00000295373.6	-	6	1626	c.1500G>A	c.(1498-1500)aaG>aaA	p.K500K	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	500							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAATCTTTTTCTTAAGGTTCA	0.403000													5	95					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140269450	140269450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140269450C>T	ENST00000275884.6	-	6	1952	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	DENND2A_ENST00000492720.1_Missense_Mutation_p.G512E|DENND2A_ENST00000537639.1_Missense_Mutation_p.G512E|DENND2A_ENST00000496613.1_Missense_Mutation_p.G512E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	512										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTACCTTTTCCTGAGTTGCT	0.527000													8	240					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55398347	55398347	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:55398347T>C	ENST00000341048.4	-	11	1848	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	ANKRD55_ENST00000434982.2_Missense_Mutation_p.N278S|ANKRD55_ENST00000504958.2_Missense_Mutation_p.N523S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	565										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGAGCTAGGTTGTTCCGAGT	0.373000													3	60					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17723577	17723577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:17723577G>A	ENST00000355815.4	-	3	609	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000338854.5_Missense_Mutation_p.S117F|SREBF1_ENST00000261646.5_Missense_Mutation_p.S117F|SREBF1_ENST00000435530.2_Missense_Mutation_p.S117F	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	117	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGCCCAGGGGAGAAAGCGGG	0.662000													8	106					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41931180	41931180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41931180C>T	ENST00000317310.4	+	4	528	c.487C>T	c.(487-489)Cct>Tct	p.P163S	CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P163S|CD300LG_ENST00000377203.4_Missense_Mutation_p.P129S|CD300LG_ENST00000293396.8_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	163						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGTAGCTTCTCCTGGGCTCTA	0.607000													5	43					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816614	67816614	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67816614C>T	ENST00000265686.3	+	15	1848	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	TCIRG1_ENST00000532635.1_Silent_p.L364L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	580					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGCTGGGACTCTTCGGTTACC	0.627000													13	146					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000803	41000803	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41000803G>A	ENST00000352632.3	+	6	673		c.e6-1		SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			cacccttccAGTTACCCTGAG	0.542000													4	60					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233967	120233967	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:120233967G>A	ENST00000276681.6	+	3	375	c.273G>A	c.(271-273)gtG>gtA	p.V91V	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	91	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CTGGCATGGTGGCTCAAATTG	0.428000													5	67					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651402	1651402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1651402C>T	ENST00000399676.2	+	1	370	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	111	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGTGGCTCCTGTGGGGGG	0.697000													10	141					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404775	10404775	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10404775C>T	ENST00000226207.5	-	27	3484	c.3390G>A	c.(3388-3390)cgG>cgA	p.R1130R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1130						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGGGAGGCCCGCTCTGCCT	0.572000													4	71					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926337	22926337	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:22926337G>A	ENST00000261374.3	+	2	992	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	186						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTCAAGAGGCTCCTCGAC	0.557000													11	108					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256911	63256911	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:63256911C>T	ENST00000323865.3	-	1	869	c.636G>A	c.(634-636)ctG>ctA	p.L212L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	212					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATAGAGAACCAGCATGAGCA	0.567000													13	216					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53008368	53008368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53008368C>T	ENST00000305748.3	-	4	848	c.814G>A	c.(814-816)Gag>Aag	p.E272K	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	272	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E272K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTACCCCCTCGTACAGACAC	0.512000													6	65					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56408986	56408986	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56408986G>A	ENST00000544374.1	-	1	961	c.933C>T	c.(931-933)atC>atT	p.I311I	OR5AP2_ENST00000302981.1_Silent_p.I310I			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GTTTCCATAAGATCTTCTTTA	0.328000													3	74					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347381	91347381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:91347381C>T	ENST00000358859.2	-	1	1572	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		AAAAGTGCAGCTTATAAAGTT	0.433000													8	106					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345429	28345429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28345429C>T	ENST00000337532.5	-	17	1807	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	MPP7_ENST00000375732.1_Missense_Mutation_p.G511S|MPP7_ENST00000540098.1_Missense_Mutation_p.G511S|MPP7_ENST00000375719.3_Missense_Mutation_p.G511S	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	511	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTGCAGCACCTTGGTCATCT	0.448000													17	135					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785277	54785277	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:54785277G>A	ENST00000218436.6	-	8	1259	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	410	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I410I(1)									CATTGGAGAGGATCACACTGG	0.627000													7	34					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912370	150912370	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150912370G>A	ENST00000329903.4	+	6	1428	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	465					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGTAGAGCTGGTACTGA	0.522000													17	61					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13862707	13862707	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13862707G>A	ENST00000265104.4	-	29	4850	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1582	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATGTTGGCGATGATTTCCG	0.453000									Kartagener syndrome				4	70					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322729	150322729	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:150322729C>T	ENST00000533735.1	-	0	147					NR_024045.1																						ATCCACCAGGCCTTGAACTTC	0.453000													13	89					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76313941	76313941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:76313941C>T	ENST00000263187.3	+	8	1314	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	404					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGTTTTAGTCCAAATTCCAAA	0.274000								Mismatch excision repair (MMR)					4	61					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821663	45821663	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:45821663C>T	ENST00000397928.1	+	16	2866	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.F807F|TRPM2_ENST00000300481.9_Silent_p.F787F|TRPM2_ENST00000397932.2_Silent_p.F807F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	807						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.F807F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCCTACTTCGCCTTCCTCT	0.632000													44	466					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676352	20676352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:20676352G>A	ENST00000525748.1	+	16	2605	c.2332G>A	c.(2332-2334)Gga>Aga	p.G778R	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	778					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGACCCCTTGGGAACCTCTTC	0.547000													7	171					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801117	3801117	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3801117C>T	ENST00000225538.3	-	12	1465	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	397					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATCAGGATGTCCTCATGTTCT	0.652000													6	63					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650586	121650586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:121650586C>T	ENST00000393386.2	+	12	1897	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P496S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	496					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGTGATGTTCCCAATACATC	0.423000													10	51					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51053024	51053024	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:51053024C>T	ENST00000442544.2	+	28	4765	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.S1016S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1383					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACAGCCTCCCTTGGGTTGG	0.473000													4	93					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938171	75938171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:75938171G>A	ENST00000307428.7	+	2	792	c.580G>A	c.(580-582)Gag>Aag	p.E194K	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	194					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AACTGCACCAGAGTCCCCGAC	0.567000													11	191					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100888950	100888950	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:100888950A>T	ENST00000343933.5	-	11	1584	c.1327T>A	c.(1327-1329)Tcc>Acc	p.S443T	CORO2A_ENST00000375077.4_Missense_Mutation_p.S443T	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	443					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCCAACAGGGAGGAAGACCTC	0.552000													41	202					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32083616	32083616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32083616G>A	ENST00000375201.4	-	18	2048	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	ATF6B_ENST00000375203.3_Missense_Mutation_p.S671F			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	671					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGGGTTGGGGATGGCTGTTT	0.602000													6	72					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763735	160763735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:160763735C>T	ENST00000274547.2	-	7	800	c.583G>A	c.(583-585)Gat>Aat	p.D195N	GABRB2_ENST00000353437.6_Missense_Mutation_p.D195N|GABRB2_ENST00000517547.1_Missense_Mutation_p.D35N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D195N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D132N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D195N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	195					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCATTATCATCGCCACGCCAG	0.353000													8	111					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111845880	111845880	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111845880C>T	ENST00000308910.4	-	4	328	c.143_splice	c.e4-1	p.W48_splice	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Splice_Site_p.W50_splice	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		GTATTTTTTTCCTGTAAAAGA	0.284000													3	26					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695149	42695149	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:42695149G>A	ENST00000537449.1	+	0	286				GHR_ENST00000230882.4_Missense_Mutation_p.G133S|GHR_ENST00000357703.3_Missense_Mutation_p.G111S			P10912	GHR_HUMAN	growth hormone receptor						2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AACTAGCAATGGTGGTACAGT	0.363000													7	43					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846840	55846840	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55846840C>T	ENST00000322678.1	+	1	843	c.843C>T	c.(841-843)ccC>ccT	p.P281P	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTGTCGCACCCTTGTTGAACC	0.413000													5	44					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44191933	44191933	+	Silent	SNP	G	G	A	rs13306389		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:44191933G>A	ENST00000403799.3	-	3	769	c.300C>T	c.(298-300)agC>agT	p.S100S	GCK_ENST00000345378.2_Silent_p.S101S|GCK_ENST00000395796.3_Silent_p.S99S|GCK_ENST00000437084.1_Silent_p.S100S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	100					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGGTCTTCACGCTCCACTGCC	0.627000													5	236					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19209744	19209744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:19209744C>T	ENST00000533783.1	-	4	460	c.220G>A	c.(220-222)Gga>Aga	p.G74R	CSRP3_ENST00000265968.3_Missense_Mutation_p.G74R	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	74	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GCGCCTTGTCCATACCCGATC	0.582000													12	149					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594875	50594875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50594875C>T	ENST00000374139.2	-	4	274	c.264G>A	c.(262-264)tgG>tgA	p.W88*	DRGX_ENST00000434016.1_Nonsense_Mutation_p.W93*			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	93					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGTCTTCCTCCATTTGGCCC	0.557000													15	193					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156261256	156261256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156261256C>T	ENST00000405535.2	+	4	1223	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	TMEM79_ENST00000295694.5_Missense_Mutation_p.S351L|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000357501.2_Silent_p.V112V	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	351						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCACTGCTGTCGATGCTGATG	0.627000													25	218					0	0	1	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549217	44549217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44549217G>A	ENST00000451265.1	-	1	1317	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TTCAAGAACCGAGTAGGGGAC	0.632000													7	481					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48685349	48685349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:48685349G>A	ENST00000294952.8	+	4	515	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	PPP1R21_ENST00000281394.4_Missense_Mutation_p.E120K|PPP1R21_ENST00000449090.2_Missense_Mutation_p.E120K	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	120										endometrium(2)|kidney(4)|lung(9)	15						AGAAGAGAATGAACGGTTGCA	0.348000													6	111					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893202	1893202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1893202C>T	ENST00000399161.2	-	16	3078	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	MYT1L_ENST00000428368.2_Missense_Mutation_p.M775I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	777					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)		TCTGCTTGTTCATGCTGAGGT	0.597000													11	81					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105162876	105162876	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:105162876C>T	ENST00000369797.3	+	4	330	c.234_splice	c.e4-1	p.S79_splice		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	79					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCTTCTAGTCCCTGTGTGAG	0.448000													15	179					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427755	119427755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:119427755C>T	ENST00000369429.3	-	8	1418	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	TBX15_ENST00000207157.3_Missense_Mutation_p.G364E			Q96SF7	TBX15_HUMAN	T-box 15	470						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGAAAGGACCCCAGCTGGCC	0.572000													3	40					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11522871	11522871	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11522871A>G	ENST00000262442.3	+	6	1191	c.1123A>G	c.(1123-1125)Aat>Gat	p.N375D	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	375	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCCTCTAATTATCTCAG	0.433000													7	104					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178236	65178236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:65178236G>A	ENST00000310045.7	-	2	5113	c.3640C>T	c.(3640-3642)Cgc>Tgc	p.R1214C	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1204						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATCCTAGGCGATCCATCAGA	0.373000													7	55					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47549318	47549318	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:47549318G>A	ENST00000357838.4	+	28	2752	c.2670G>A	c.(2668-2670)caG>caA	p.Q890Q	COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.Q890Q	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TAGAGCGGCAGGACTGGATGG	0.677000													3	55					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673885	113673885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:113673885G>A	ENST00000003302.4	-	23	2925	c.2857C>T	c.(2857-2859)Ctt>Ttt	p.L953F	USP28_ENST00000545540.1_Missense_Mutation_p.L796F|USP28_ENST00000544967.1_Missense_Mutation_p.L629F|USP28_ENST00000260188.5_Missense_Mutation_p.L921F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	953					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAAACCAGAAGGCATTTTCTT	0.458000													11	119					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81745046	81745046	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:81745046C>T	ENST00000555447.1	-	6	1021	c.609G>A	c.(607-609)gaG>gaA	p.E203E	STON2_ENST00000267540.2_Silent_p.E203E|STON2_ENST00000556280.1_5'UTR	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	203					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGGCCTCCATCTCTACTTCTT	0.512000													4	70					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646767	122646767	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:122646767G>A	ENST00000195173.4	-	8	1023	c.720C>T	c.(718-720)gtC>gtT	p.V240V	SEMA5B_ENST00000451055.2_Silent_p.V294V|SEMA5B_ENST00000357599.3_Silent_p.V240V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	240	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGAGGAGATGACAGCTGTGG	0.627000													6	96					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990952	63990952	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:63990952C>T	ENST00000370658.5	-	4	537	c.504G>A	c.(502-504)gtG>gtA	p.V168V	LGSN_ENST00000370657.4_Silent_p.V168V	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	168					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TATCACATATCACTCTTGCAG	0.458000													7	77					0	0	1	0	0
TRAV30	28652	broad.mit.edu	37	14	22636798	22636798	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22636798C>T	ENST00000557168.1	+	0	251																											ATATCTGCTTCATTTAATGAA	0.468000													4	18					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978488	160978488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:160978488C>T	ENST00000447678.1	-	30	4867	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K	LPA_ENST00000316300.5_Missense_Mutation_p.E1583K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4091	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACCTGATTCTGTTTCTGAG	0.483000													13	125					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818751	159818751	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:159818751C>T	ENST00000497452.1	-	0	517																											CCGAACTCTCCATGGGCAGCT	0.493000													15	121					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841627	70841627	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70841627G>A	ENST00000393567.2	-	86	15372	c.15222C>T	c.(15220-15222)atC>atT	p.I5074I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5074										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGTTGTTGATCTTCTTGG	0.522000													14	115					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134281	27134281	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:27134281G>A	ENST00000343060.4	-	2	847	c.786C>T	c.(784-786)atC>atT	p.I262I	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	262						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGATGCAGCGATCTCCACCC	0.562000													15	135					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101099714	101099714	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:101099714G>A	ENST00000376865.1	+	10	457	c.449_splice	c.e10-1	p.Q150_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	150					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTTTTTTTAGGATTCAGTGGT	0.338000													6	34					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149583553	149583553	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:149583553G>A	ENST00000230671.2	+	10	1655	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	SLC6A7_ENST00000524041.1_Silent_p.G428G	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	428						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGTTCTCAGGGCTCATCTGCG	0.587000													4	26					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763511	110763511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:110763511C>T	ENST00000451085.1	+	4	1729	c.683C>T	c.(682-684)cCa>cTa	p.P228L	IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P228L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P228L|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	228						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAGAAATACCAGATAACGCC	0.368000													10	55					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500585	90500585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:90500585G>A	ENST00000325643.5	+	4	1249	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GACATCACTGGGGAAGGAGTG	0.567000													8	117					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187541949	187541949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:187541949C>T	ENST00000261023.3	+	30	3351	c.3077C>T	c.(3076-3078)cCa>cTa	p.P1026L	ITGAV_ENST00000433736.2_Missense_Mutation_p.P980L|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.P990L	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	1026					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CGGGTCCGGCCACCTCAAGAA	0.378000													3	23					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524035	24524035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:24524035C>T	ENST00000376862.3	+	2	935	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	101					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						GTGCTGCGCTCCTGGGGGGAC	0.637000													9	129					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058339	11058339	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:11058339G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGGGTAAAGGAGAGAAATCT	0.368000													4	134					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021123	5021123	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:5021123G>A	ENST00000382545.3	+	2	1686	c.579G>A	c.(577-579)aaG>aaA	p.K193K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	193					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGAGCTGAAGGATGACAAGG	0.577000													7	60					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90167817	90167817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90167817G>A	ENST00000268138.7	+	20	4381	c.4276G>A	c.(4276-4278)Gga>Aga	p.G1426R	TICRR_ENST00000560985.1_Missense_Mutation_p.G1425R|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		TGACCAGAAGGGACTGAGCCT	0.587000													11	143					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146673043	146673043	+	Missense_Mutation	SNP	G	G	A	rs143729816		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:146673043G>A	ENST00000254090.4	-	7	1262	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.R292C|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	292						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R292S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAAATGATACGATTTGGCAGG	0.448000													7	96					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751023	751023	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:751023G>A	ENST00000406797.1	-	2	294	c.120C>T	c.(118-120)atC>atT	p.I40I	PRKAR1B_ENST00000544935.1_Silent_p.I40I|PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000360274.4_Silent_p.I40I|PRKAR1B_ENST00000403562.1_Silent_p.I40I|PRKAR1B_ENST00000537384.1_Silent_p.I40I	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	40	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CGGGCTTGGAGATGCAGAGGT	0.637000													12	129					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49044310	49044310	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49044310G>A	ENST00000343546.4	+	9	2030	c.1662G>A	c.(1660-1662)cgG>cgA	p.R554R	P4HTM_ENST00000383729.4_Silent_p.R493R	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	493						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTCTGGACCGGGCCTACCGCG	0.687000													3	35					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928414	137928414	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:137928414C>T	ENST00000409968.1	+	7	1807	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	THSD7B_ENST00000272643.3_Silent_p.Y543Y|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.Y512Y|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAATGTGCTACCGATGGCTGG	0.532000													3	36					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3937374	3937374	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3937374G>A	ENST00000381638.2	-	40	6643	c.6519C>T	c.(6517-6519)tcC>tcT	p.S2173S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2173							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGGCACAATGGAACTGTCCC	0.552000													29	230					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835800	12835800	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12835800G>A	ENST00000357726.4	+	2	429	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	134										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCAGGGAACTGTCCAA	0.537000													19	107					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176168	8176168	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8176168G>A	ENST00000520004.1	-	6	3981	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I	SGK223_ENST00000330777.4_Silent_p.I1239I			Q86YV5	SG223_HUMAN		1239	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AAGCAGACACGATCTCGGGGG	0.617000													5	68					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716154	50716154	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50716154A>G	ENST00000449103.1	-	33	5202	c.5062T>C	c.(5062-5064)Ttc>Ctc	p.F1688L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1688L			O15031	PLXB2_HUMAN	plexin B2	1688					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCACCCAGAACCGGAGCGGT	0.637000													13	153					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518648	106518648	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106518648C>T	ENST00000390598.2	-	0	181																											CTCAGGGACCCCCCAGGCTGG	0.592000													34	161					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36556778	36556778	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36556778C>T	ENST00000349314.2	-	1	199	c.162G>A	c.(160-162)gtG>gtA	p.V54V	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	54					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GTGTGGATCCCACCTCCAGCC	0.512000													10	132					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433149	45433149	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:45433149C>T	ENST00000321429.4	+	14	1853	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	DUOX1_ENST00000389037.3_Silent_p.L482L|DUOX1_ENST00000561166.1_Silent_p.L128L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	482	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TAGAGCTGCTCCCTGGGGGAC	0.587000													8	107					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677814	25677814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25677814C>T	ENST00000382051.3	+	13	1566	c.1516C>T	c.(1516-1518)Ccg>Tcg	p.P506S	SLC34A2_ENST00000503434.1_Missense_Mutation_p.P505S|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P505S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	506					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTACCCGATCCCGTTCACTCG	0.562000			T	ROS1	NSCLC								6	115					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51509906	51509906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51509906C>T	ENST00000250366.6	-	3	307	c.274G>A	c.(274-276)Gac>Aac	p.D92N	KLK9_ENST00000376832.4_Missense_Mutation_p.D92N|KLK9_ENST00000594211.1_Missense_Mutation_p.D92N|CTB-147C22.9_ENST00000594512.1_RNA	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGGAAGAAGTCCGTAACCCGG	0.602000													13	57					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23702327	23702327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23702327C>T	ENST00000290271.2	-	4	983	c.700G>A	c.(700-702)Gac>Aac	p.D234N	STC1_ENST00000524323.1_Missense_Mutation_p.D165N	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	234					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGGGAGAGTCCTCCTCACCT	0.527000													4	43					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990047	89990047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:89990047C>T	ENST00000405460.2	+	33	7570	c.7474C>T	c.(7474-7476)Ctt>Ttt	p.L2492F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2492					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)		GGTAGCATCTCTTTTTAGTGG	0.493000													7	39					0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177020755	177020755	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:177020755C>T	ENST00000332598.6	+	3	447	c.390C>T	c.(388-390)tcC>tcT	p.S130S	TMED9_ENST00000507578.1_Intron	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	130	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGTTCTCCCTCTTTGCTG	0.567000													14	202					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657706	143657706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143657706C>T	ENST00000392899.1	+	1	680	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTGCCTGGTTCTTTTGTCCTA	0.502000													4	109					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082536	152082536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152082536C>T	ENST00000368804.1	-	2	3156	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1053	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			agctcctcttcctccCGATAT	0.577000													8	182					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74784195	74784195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74784195G>A	ENST00000233668.5	+	5	2069	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	DOK1_ENST00000409429.1_Missense_Mutation_p.R328K|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	467					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGCTCTCTAGAGTAGGGACT	0.602000													13	62					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70599145	70599145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70599145C>T	ENST00000302516.5	+	19	2852	c.2641C>T	c.(2641-2643)Cag>Tag	p.Q881*		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	881					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCTTGTCCAGCTGGAACA	0.537000													9	55					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401049	55401049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55401049G>A	ENST00000391723.3	+	4	574	c.574G>A	c.(574-576)Gat>Aat	p.D192N	FCAR_ENST00000391725.3_Silent_p.L206L|FCAR_ENST00000391724.3_Silent_p.L194L|FCAR_ENST00000345937.4_Silent_p.L132L|FCAR_ENST00000353758.4_Silent_p.L119L|FCAR_ENST00000359272.4_Silent_p.L216L|FCAR_ENST00000391726.3_Silent_p.L120L|FCAR_ENST00000355524.3_Silent_p.L228L|FCAR_ENST00000482092.2_3'UTR	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CGCAGAACTTGATCCGCATGG	0.537000													32	726					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114280858	114280858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:114280858G>A	ENST00000369604.1	-	5	688	c.205C>T	c.(205-207)Cca>Tca	p.P69S	PHTF1_ENST00000393357.2_Missense_Mutation_p.P69S|PHTF1_ENST00000369600.1_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.P69S|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.P69S|PHTF1_ENST00000357783.2_Missense_Mutation_p.P69S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	69						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		GATGTCCATGGAATTTCAGGT	0.373000													12	69					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377943	28377943	+	Silent	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28377943C>A	ENST00000261609.7	-	80	12372	c.12264G>T	c.(12262-12264)ctG>ctT	p.L4088L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4088					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAATTCCTCTCAGAGACTCGA	0.498000													14	162					1.00905e-13	1.02271e-13	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143093092	143093092	+	Silent	SNP	G	G	A	rs35448483		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:143093092G>A	ENST00000367603.2	-	5	3526	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	HIVEP2_ENST00000012134.2_Silent_p.S928S|HIVEP2_ENST00000367604.1_Silent_p.S928S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGGGGAGCTGGGAAAGGGTCT	0.547000													4	55					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763711	82763711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82763711G>A	ENST00000423517.2	-	3	3492	c.3155C>T	c.(3154-3156)tCg>tTg	p.S1052L	PCLO_ENST00000333891.8_Missense_Mutation_p.S1052L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	998					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						TGGTTTGGGCGATTTCTCCAG	0.408000													7	42					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654316	159654316	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:159654316C>T	ENST00000297267.9	+	11	2972	c.2772C>T	c.(2770-2772)ccC>ccT	p.P924P	FNDC1_ENST00000340366.6_Silent_p.P861P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	924						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAAGGAACCCATCCCAGAGA	0.607000													5	37					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784543	9784543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:9784543C>T	ENST00000304374.2	+	1	1286	c.890C>T	c.(889-891)aCc>aTc	p.T297I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	297			T -> P (in dbSNP:rs2227851).		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)	GTTCTCAAGACCCTGTCGGTG	0.632000													6	79					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49676846	49676846	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:49676846T>A	ENST00000339139.4	-	4	300	c.64A>T	c.(64-66)Aag>Tag	p.K22*		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	22						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AACCTTACCTTTCCTTCTGCA	0.413000													8	63					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43173000	43173000	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43173000G>A	ENST00000252050.4	+	24	4716		c.e24-1		CUL9_ENST00000372647.2_Splice_Site|CUL9_ENST00000354495.3_Splice_Site	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGCCCCCAGATGAGTGAGC	0.567000													26	347					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101200735	101200735	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:101200735C>T	ENST00000313669.7	+	0	1440				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GCGCCCAACCCGATGGGGTCC	0.647000													4	39					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918644	43918644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43918644G>A	ENST00000336086.6	-	4	2525	c.289C>T	c.(289-291)Cca>Tca	p.P97S	URGCP_ENST00000443736.1_Missense_Mutation_p.P97S|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.P97S|URGCP_ENST00000453200.1_Missense_Mutation_p.P140S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.P97S|URGCP_ENST00000402306.3_Missense_Mutation_p.P131S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	140					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCGTCTGGGAGCACGTCC	0.547000													16	131					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945398	72945398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:72945398G>A	ENST00000311131.2	+	3	661	c.194G>A	c.(193-195)tGg>tAg	p.W65*	P2RY2_ENST00000393597.2_Nonsense_Mutation_p.W65*|P2RY2_ENST00000393596.2_Nonsense_Mutation_p.W65*	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCAAGACCTGGAATGCGTCC	0.602000													5	122					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691668	26691668	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26691668G>A	ENST00000436292.1	-	4	489	c.369C>T	c.(367-369)ttC>ttT	p.F123F	ZNF683_ENST00000403843.1_Silent_p.F123F|ZNF683_ENST00000374204.1_Silent_p.F123F|ZNF683_ENST00000349618.3_Silent_p.F123F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACTTGACTGTGAATTTCTTGT	0.567000													3	23					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3571950	3571950	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3571950C>A	ENST00000262919.5	+	19	3387	c.3319C>A	c.(3319-3321)Cag>Aag	p.Q1107K	ATRN_ENST00000446916.2_Missense_Mutation_p.Q1107K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1107	Laminin EGF-like 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGGAAATGTCAGCGTAAGTC	0.463000													16	144					9.7654e-05	9.84287e-05	1	1	0
PTGIR	5739	broad.mit.edu	37	19	47124666	47124666	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47124666C>T	ENST00000291294.2	-	3	1165	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	PTGIR_ENST00000598865.1_Silent_p.G132G|PTGIR_ENST00000594275.1_Silent_p.G101G|PTGIR_ENST00000597185.1_Silent_p.G73G	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	344					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCACGCAGCTCCCCTCCTTTC	0.692000													3	19					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157920883	157920883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:157920883C>T	ENST00000295930.3	+	4	505	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.R115C|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.R115C	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	115	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACCTCGTCTCCGTTCTCATAG	0.398000													4	26					0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284190	47284190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:47284190C>T	ENST00000511277.1	-	4	318	c.139G>A	c.(139-141)Gat>Aat	p.D47N	GNGT2_ENST00000515635.1_Missense_Mutation_p.D47N|GNGT2_ENST00000503070.1_Missense_Mutation_p.D47N|GNGT2_ENST00000511673.1_Missense_Mutation_p.D47N|GNGT2_ENST00000300406.2_Missense_Mutation_p.D47N|GNGT2_ENST00000507680.1_Missense_Mutation_p.D47N	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	47					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			AGAAAAGGATCGTTTCCTGCT	0.488000													13	96					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941280	52941280	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52941280G>A	ENST00000394752.3	-	19	2518	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	SFMBT1_ENST00000296295.6_Silent_p.S712S|SFMBT1_ENST00000358080.2_Silent_p.S712S|SFMBT1_ENST00000394750.1_Silent_p.S712S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	712					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTTCACTTAGGGAATCATCAT	0.473000													8	85					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016436	27016436	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:27016436G>A	ENST00000318627.2	+	1	809	c.363G>A	c.(361-363)cgG>cgA	p.R121R		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	121						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACCTGCGGCGGGAGTCCCACC	0.617000													8	96					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155263259	155263259	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155263259G>A	ENST00000392414.3	-	8	1259	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	PKLR_ENST00000342741.4_Silent_p.F413F	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	413					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.F413F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTTCCACAGGGAAGTTGCCCT	0.587000													6	60					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522042	7522042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7522042C>T	ENST00000313599.3	-	15	4007	c.3950G>A	c.(3949-3951)gGa>gAa	p.G1317E	CD163L1_ENST00000396630.1_Missense_Mutation_p.G1317E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1327E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1317	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACTCATTTCCTTTGCACCG	0.557000													8	133					0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24140701	24140701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24140701G>A	ENST00000374483.4	-	6	1072	c.401C>T	c.(400-402)tCa>tTa	p.S134L	HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000509389.1_Intron|HMGCL_ENST00000374490.3_Missense_Mutation_p.S159L			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	159					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AATATTGGCTGACTGCGCTGC	0.498000													17	143					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108603974	108603974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:108603974G>A	ENST00000332082.4	+	5	1392	c.574G>A	c.(574-576)Gag>Aag	p.E192K	WSCD2_ENST00000549903.1_Missense_Mutation_p.E192K|WSCD2_ENST00000547525.1_Missense_Mutation_p.E192K|WSCD2_ENST00000261400.3_Missense_Mutation_p.E192K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	192	WSC 1.					integral to membrane		p.E192K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACGTGAGCGAGGCAGAGTG	0.677000													8	54					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041443	86041443	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:86041443C>T	ENST00000414626.2	+	9	2284	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	LRRCC1_ENST00000360375.3_Silent_p.S485S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	485					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAGAAATTCCAAAGGACAAC	0.294000													9	155					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683576	27683576	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:27683576G>A	ENST00000374040.3	-	23	3524	c.3264C>T	c.(3262-3264)atC>atT	p.I1088I	MAP3K6_ENST00000357582.2_Silent_p.I1096I|MAP3K6_ENST00000493901.1_Silent_p.I1096I			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1096					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGTGTGGACGGATCTGGCGCT	0.642000													12	87					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41166440	41166440	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:41166440T>C	ENST00000220772.3	-	1	576	c.239A>G	c.(238-240)aAc>aGc	p.N80S		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	80	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CTCCAGCAGGTTGGGCAGCAC	0.647000													3	26					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698376	17698376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:17698376C>T	ENST00000353383.1	+	3	2583	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L	RAI1_ENST00000261641.6_Missense_Mutation_p.P705L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	705						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACAACTGGTCCTCTCTCCTTT	0.592000													8	91					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027582	37027582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37027582C>T	ENST00000358047.3	+	1	1151	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	367										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCTCTCCGCCAGCTGCC	0.637000													10	67					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179938	166179938	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166179938G>A	ENST00000375437.2	+	12	2234	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	SCN2A_ENST00000357398.3_Silent_p.V648V|SCN2A_ENST00000375427.2_Silent_p.V648V|SCN2A_ENST00000283256.6_Silent_p.V648V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	648					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATAGCGCTGTGGACTGCAATG	0.592000													5	29					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572287	142572287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142572287C>T	ENST00000359396.3	-	11	1654	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	470					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGAATCCTCGGGCGAAGTA	0.592000													7	144					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	395335	395335	+	Silent	SNP	G	G	C	rs142078818	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:395335G>C	ENST00000280886.6	-	25	3132	c.3045C>G	c.(3043-3045)gcC>gcG	p.A1015A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1015						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCAGCATCACGGCGATCTTCT	0.617000													6	77					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012022	160012022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160012022G>A	ENST00000368089.3	-	2	527	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	101						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGGCCGGGGGGTCCAGCTCC	0.587000													4	75					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49371708	49371708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:49371708C>T	ENST00000374201.3	-	28	3846	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	FRMPD2_ENST00000474573.1_Missense_Mutation_p.E134K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1150K|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1157K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1182					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCTGAGAGTTCAGGTGTCTAT	0.448000													9	126					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044309	90044309	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:90044309C>T	ENST00000462693.1	+	0	260																											TATAAGGTTTCTAACCGGTTC	0.517000													13	168					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294426	156294426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:156294426C>T	ENST00000311277.4	-	4	606	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.E115K|MAP9_ENST00000379248.2_Missense_Mutation_p.E43K	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	115					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GGTGCCATTTCCTCTTCATTT	0.328000													9	106					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982226	61982226	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61982226G>A	ENST00000370263.4	-	5	758	c.537C>T	c.(535-537)ttC>ttT	p.F179F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	179					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCAGGAGCCGAATTTCATGG	0.602000													14	134					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128577864	128577864	+	Silent	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:128577864T>G	ENST00000335251.5	+	3	859	c.756T>G	c.(754-756)ccT>ccG	p.P252P	INTU_ENST00000296461.5_Silent_p.P252P	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	252	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGCATTCCTGGACCTATGC	0.328000													6	96					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097945	56097945	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:56097945G>A	ENST00000394555.2	-	10	1665	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	EFEMP1_ENST00000394554.1_Silent_p.I410I|EFEMP1_ENST00000424836.2_Silent_p.I272I|EFEMP1_ENST00000355426.3_Silent_p.I410I	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	410	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTATCTGGAAGATGTCTGATG	0.433000													6	87					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279739	32279739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32279739G>A	ENST00000360482.2	-	2	1325	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	SPOCD1_ENST00000533231.1_Missense_Mutation_p.S399F|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S399F|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	399					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ATCCAGGGAGGAGCTGAGGCC	0.632000													5	23					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204120	9204120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9204120C>T	ENST00000429566.3	+	1	266	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCAACCTGTCCCTGGTTGAT	0.557000													16	147					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627275	31627275	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31627275C>T	ENST00000349552.1	+	10	1023	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	341						extracellular region	lipid binding										TGGAGATGTTCGCAGCTCGGT	0.522000													13	154					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199320	100199320	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:100199320G>A	ENST00000317233.4	-	16	2968	c.2733C>T	c.(2731-2733)gcC>gcT	p.A911A	AFF3_ENST00000356421.2_Silent_p.A936A|AFF3_ENST00000409579.1_Silent_p.A936A|AFF3_ENST00000409236.1_Silent_p.A911A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	911					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTGGAAGAGGCTGAAGTAA	0.498000													7	84					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764950	184764950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:184764950C>T	ENST00000367511.3	-	14	2141	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	650					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCAGTCCCATCTGGGGGTGGG	0.562000													9	78					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945573	55945573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55945573C>T	ENST00000394256.2	+	1	591	c.563C>T	c.(562-564)tCa>tTa	p.S188L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTGCCTGCTCAGACACAAGC	0.468000													5	78					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131010938	131010938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131010938C>T	ENST00000341179.7	+	19	2074	c.1982C>T	c.(1981-1983)aCc>aTc	p.T661I	DNM1_ENST00000486160.1_Missense_Mutation_p.T661I|DNM1_ENST00000372923.3_Missense_Mutation_p.T661I|DNM1_ENST00000475805.1_Missense_Mutation_p.T661I|DNM1_ENST00000393594.3_Missense_Mutation_p.T661I	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	661	GED.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CAAGTGGAGACCATCCGGAAT	0.537000													43	202					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530938	55530938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:55530938G>A	ENST00000219070.4	+	10	2082	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	MMP2_ENST00000570308.1_Missense_Mutation_p.E449K|MMP2_ENST00000543485.1_Missense_Mutation_p.E449K|MMP2_ENST00000437642.2_Missense_Mutation_p.E475K	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	525	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCGGTATACGAGGCCCCACA	0.612000													11	120					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368830	40368830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40368830C>T	ENST00000221347.6	-	28	12525	c.12518G>A	c.(12517-12519)cGg>cAg	p.R4173Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4173	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTGAAATCCGCCCGTCGGC	0.622000													31	327					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37846083	37846083	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:37846083T>C	ENST00000381967.4	+	7	918	c.818T>C	c.(817-819)gTt>gCt	p.V273A	PGM2_ENST00000544359.1_Missense_Mutation_p.V134A|PGM2_ENST00000537241.1_Missense_Mutation_p.V113A	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	273					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTGACCTTGTTCCTCCTGAG	0.498000													9	125					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100649877	100649877	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:100649877G>A	ENST00000416321.1	-	4	830	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	276					intracellular signal transduction			p.I276I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAGTGTTAGTGATAACAAGAT	0.333000													5	82					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310489	56310489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56310489G>A	ENST00000528616.2	-	1	268	c.245C>T	c.(244-246)tCg>tTg	p.S82L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATATTAGTCGACATCTGCGG	0.443000													6	55					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579382	82579382	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82579382T>C	ENST00000423517.2	-	6	10859	c.10522A>G	c.(10522-10524)Aaa>Gaa	p.K3508E	PCLO_ENST00000333891.8_Missense_Mutation_p.K3508E|PCLO_ENST00000437081.1_Missense_Mutation_p.K228E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3439					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						GAAAGGGGTTTGGTCTTGTCA	0.473000													6	37					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202854	140202854	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140202854G>A	ENST00000529859.1	+	1	1494	c.1494G>A	c.(1492-1494)gtG>gtA	p.V498V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.V498V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.V498V|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCGGGTGGGCGAGCGCC	0.672000													8	105					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190193	209190193	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:209190193C>T	ENST00000264380.4	+	20	2816	c.2658C>T	c.(2656-2658)aaC>aaT	p.N886N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	886					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAATGCAAAACCCTTCATTCC	0.468000													7	65					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338483	186338483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:186338483C>T	ENST00000411641.2	+	7	1087	c.868C>T	c.(868-870)Cca>Tca	p.P290S	AHSG_ENST00000273784.5_Missense_Mutation_p.P291S			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	290					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGGACTCCCTCCAGCTGGCTC	0.637000													25	257					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32605241	32605241	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32605241C>T	ENST00000343139.5	+	1	108	c.6C>T	c.(4-6)atC>atT	p.I2I	HLA-DQA1_ENST00000374949.2_Silent_p.I2I|HLA-DQA1_ENST00000395363.1_Silent_p.I2I	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	2					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGAGGATGATCCTAAACAAAG	0.522000													3	43					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033348	34033348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34033348G>A	ENST00000373381.4	-	53	8401	c.8225C>T	c.(8224-8226)cCt>cTt	p.P2742L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATGGGCTCAGGAGTCCCACA	0.532000													9	30					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732789	179732789	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179732789G>A	ENST00000420890.2	-	16	2655	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	CCDC141_ENST00000295723.5_Silent_p.S271S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	271	Ig-like.						protein binding	p.S271S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGACTCCTAAGGAAAGGGCCA	0.507000													4	46					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23213840	23213840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:23213840C>T	ENST00000322231.7	+	12	2108	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C	KLHL7_ENST00000339077.4_Missense_Mutation_p.R562C|KLHL7_ENST00000409689.1_Missense_Mutation_p.R514C|KLHL7_ENST00000539124.1_Missense_Mutation_p.R486C|KLHL7_ENST00000545443.1_Missense_Mutation_p.R540C|KLHL7_ENST00000542558.1_Missense_Mutation_p.R337C|AC005082.1_ENST00000366347.4_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	562						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCAAAGTTCGTGCTTTTCC	0.398000													12	124					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590848	31590848	+	Missense_Mutation	SNP	C	C	T	rs61731083	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31590848C>T	ENST00000379416.3	-	20	2224	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	726					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTATCTGCTTCGGAAAACCCC	0.448000													8	213					0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45953816	45953816	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:45953816A>C	ENST00000453424.2	-	8	1854	c.1593T>G	c.(1591-1593)atT>atG	p.I531M	MARCH8_ENST00000395771.3_Missense_Mutation_p.I249M|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.I249M|MARCH8_ENST00000395769.2_Missense_Mutation_p.I249M			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	249						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATTTTTCAAAAATATTCTTTT	0.368000													9	118					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34934591	34934591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:34934591C>T	ENST00000304718.4	+	7	1136	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	274					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.R274S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCTTTTGGGTCGTGCTGAGCC	0.438000													17	223					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030722	56030722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:56030722G>A	ENST00000309675.2	+	1	79	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCCTTCTGGGATTCTCTGAC	0.527000													13	142					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27455978	27455978	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27455978G>A	ENST00000316403.10	-	8	1744	c.1340_splice	c.e8+1	p.R447_splice	CLU_ENST00000523500.1_Splice_Site_p.R447_splice|CLU_ENST00000405140.3_Splice_Site_p.R447_splice|CLU_ENST00000560366.1_Splice_Site_p.R499_splice|CLU_ENST00000546343.1_Splice_Site_p.R458_splice			P10909	CLUS_HUMAN	clusterin	447					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTGCTTACCGGTGCTTTTTG	0.547000													5	60					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967013	58967013	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58967013C>T	ENST00000391696.1	+	3	1604	c.672C>T	c.(670-672)ctC>ctT	p.L224L	ZNF324B_ENST00000545523.1_Silent_p.L234L|ZNF324B_ENST00000336614.4_Silent_p.L234L			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCATAGACTCCTCGGTGGCC	0.642000													3	14					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590148	158590148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158590148C>T	ENST00000368148.3	-	44	6409	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2074K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGAATTTCATTCAGGGAG	0.473000													4	42					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132530313	132530313	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:132530313C>T	ENST00000333577.4	+	40	7285	c.7176C>T	c.(7174-7176)atC>atT	p.I2392I	EP400_ENST00000389562.2_Silent_p.I2355I|EP400_ENST00000332482.4_Silent_p.I2319I|EP400_ENST00000389561.2_Silent_p.I2356I|EP400_ENST00000330386.6_Silent_p.I2275I			Q96L91	EP400_HUMAN	E1A binding protein p400	2392	Myb-like.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.I2355I(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)		ACCTCACAATCGTGTCACCTG	0.478000													5	44					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135078815	135078815	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:135078815C>T	ENST00000428680.2	-	10	1752	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Silent_p.Q494Q|CNOT4_ENST00000541284.1_Silent_p.Q494Q|CNOT4_ENST00000361528.4_Silent_p.Q491Q|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Silent_p.Q494Q|CNOT4_ENST00000451834.1_Silent_p.Q491Q	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	494					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGCGGGCTGCCTGGCCTGGAA	0.468000													8	55					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592713	156592713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156592713G>A	ENST00000302938.4	-	1	562	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	156						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGAAGAGGGACACAACTG	0.473000													9	81					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141290290	141290290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:141290290C>T	ENST00000286364.3	+	11	1098	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.R355*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	355					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGAAATATGTCGAGATAAAAA	0.398000													22	216					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113221378	113221378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:113221378C>T	ENST00000401783.2	-	19	3674	c.3338G>A	c.(3337-3339)gGa>gAa	p.G1113E	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1090E|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1113E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1113					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGAGAATTTTCCTTCTGGACA	0.423000													22	101					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457736	45457736	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:45457736C>T	ENST00000548424.1	+	0	448																											CAATGTGTCCCTGTTGGCCTG	0.463000													6	74					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451764	19451764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19451764C>T	ENST00000396229.2	+	3	1153	c.404C>T	c.(403-405)cCt>cTt	p.P135L	TMC5_ENST00000541464.1_Missense_Mutation_p.P135L|TMC5_ENST00000381414.4_Missense_Mutation_p.P135L|TMC5_ENST00000542583.2_Missense_Mutation_p.P135L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	135						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAACGAAATCCTGATTTTGCA	0.502000													21	231					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511257	58511257	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:58511257G>A	ENST00000588627.1	-	0	2100																											CAAGGTTGACGATCTCATCAA	0.473000													3	57					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118425749	118425749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:118425749G>A	ENST00000264020.2	-	7	840	c.463C>T	c.(463-465)Cct>Tct	p.P155S	IFT46_ENST00000530872.1_Missense_Mutation_p.P155S|IFT46_ENST00000264021.3_Missense_Mutation_p.P104S	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	104					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						ATAAAATCAGGAATGAAAGGC	0.423000													8	109					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45938072	45938072	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45938072G>A	ENST00000348697.2	+	10	1251	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000327858.6_Silent_p.G368G|FBLN1_ENST00000442170.2_Silent_p.G368G|FBLN1_ENST00000262722.7_Silent_p.G368G|FBLN1_ENST00000402984.3_Silent_p.G406G|FBLN1_ENST00000340923.5_Silent_p.G368G			P23142	FBLN1_HUMAN	fibulin 1	368	EGF-like 5; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCCCTGTGGGAAGGGACATC	0.542000													17	254					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779399	52779399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52779399C>T	ENST00000396947.3	+	3	509	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	FST_ENST00000256759.3_Missense_Mutation_p.R115C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	115	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAACAAACCCCGCTGCGTCTG	0.512000													7	71					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735764	172735764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:172735764G>A	ENST00000506823.1	+	2	690	c.33G>A	c.(31-33)atG>atA	p.M11I	GALNTL6_ENST00000511251.1_Missense_Mutation_p.M11I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	11						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCTGCAGATGACTTTGTTGT	0.458000													5	56					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38128426	38128426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38128426G>A	ENST00000301659.4	+	6	818	c.700G>A	c.(700-702)Gga>Aga	p.G234R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	234					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTTCCCTCCTGGAGGTAAGTG	0.502000													3	39					0	0	1	0	0
MIR369	442914	broad.mit.edu	37	14	101531976	101531976	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101531976C>T	ENST00000362155.3	+	0	59					NR_029862.1																						TTATTGACTTCGAATAATACA	0.527000													8	75					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183364	197183364	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:197183364G>A	ENST00000260983.2	-	9	2432	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	HECW2_ENST00000409111.1_Silent_p.A394A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	750	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.A750A(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGGCTCTCGGCAGCAGCTG	0.657000													8	55					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066902	18066902	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:18066902G>A	ENST00000506618.2	-	1	584	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	168					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CATCTGGCGAGACAATAATGC	0.448000													5	59					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774548	10774548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10774548G>A	ENST00000075503.3	-	10	1511	c.991C>T	c.(991-993)Cct>Tct	p.P331S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	331	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTGGTAGGAGGGACTTCAGGA	0.418000										HNSCC(73;0.22)			8	102					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52370483	52370483	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:52370483G>A	ENST00000182527.3	-	9	788	c.789C>T	c.(787-789)gcC>gcT	p.A263A	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	263	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGGCCAGCACGGCAAGGGTGA	0.542000													14	85					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247224	142247224	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142247224C>T	ENST00000390361.3	-	0	281																											TTGGGCAGCCCTGAGTCATCT	0.557000													6	62					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44055282	44055282	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:44055282C>T	ENST00000300289.5	+	5	628	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PDIA3_ENST00000538521.1_Silent_p.F140F	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	160					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TAGGTTTTTTCGATGATTCAT	0.393000													5	87					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165801887	165801887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:165801887C>T	ENST00000366882.1	-	18	1836	c.1682G>A	c.(1681-1683)aGt>aAt	p.S561N	PDE10A_ENST00000354448.4_Missense_Mutation_p.S561N|PDE10A_ENST00000539869.2_Missense_Mutation_p.S571N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	561					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTAGCTGTTACTGAAGCCCCT	0.507000													9	117					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927791	6927791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6927791C>T	ENST00000293805.5	+	4	565	c.473C>T	c.(472-474)cCa>cTa	p.P158L	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	158	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						GCCCCTCCACCAGGTAGTCCC	0.637000													16	155					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989728	124989728	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124989728C>T	ENST00000522917.1	+	10	1148	c.942C>T	c.(940-942)ttC>ttT	p.F314F	FER1L6_ENST00000399018.1_Silent_p.F314F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	314	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAAATGTTCCCTCCCTTGT	0.502000													11	117					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969850	200969850	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200969850C>T	ENST00000332129.2	-	10	1777	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KIF21B_ENST00000461742.2_Silent_p.E487E|KIF21B_ENST00000422435.2_Silent_p.E487E|KIF21B_ENST00000360529.5_Silent_p.E487E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCACCGTAGCTCCTCGATCT	0.637000													7	92					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508066	37508066	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37508066G>A	ENST00000374660.1	+	40	3714	c.3615G>A	c.(3613-3615)aaG>aaA	p.K1205K	ANKRD30A_ENST00000361713.1_Silent_p.K1086K|ANKRD30A_ENST00000602533.1_Silent_p.K1086K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAAAGAAAAGAATGCTGAAC	0.353000													5	74					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61552739	61552739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61552739G>A	ENST00000263102.6	-	9	1592	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	454						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGCTGCTGAGGGGACCGTGGG	0.607000			T	RET	NSCLC								12	123					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144364823	144364823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144364823C>T	ENST00000538212.2	-	3	236	c.166G>A	c.(166-168)Gag>Aag	p.E56K	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000360057.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	61					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	cttcacctctcgtttccgata	0.468000													6	65					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56530724	56530724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56530724G>A	ENST00000390649.3	+	5	582	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	194						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACAAGCTATGGAACAAGAAG	0.408000													9	51					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57168659	57168659	+	Splice_Site	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:57168659A>T	ENST00000376149.3	-	3	608		c.e3+1		TRIM37_ENST00000393065.2_Splice_Site|TRIM37_ENST00000262294.7_Splice_Site|TRIM37_ENST00000393066.3_Splice_Site|TRIM37_ENST00000584889.1_Splice_Site			O94972	TRI37_HUMAN	tripartite motif containing 37							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGAAACACTTACCGGCAATGA	0.383000									Mulibrey Nanism				7	72					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51393609	51393609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51393609C>T	ENST00000266037.9	+	42	4362	c.4339C>T	c.(4339-4341)Cgc>Tgc	p.R1447C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGCTTCTATCGCGTCAACAA	0.478000													6	71					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132096504	132096504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:132096504C>T	ENST00000296873.7	-	9	1559	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N	SEPT8_ENST00000378701.1_Missense_Mutation_p.D424N|SEPT8_ENST00000378699.2_Missense_Mutation_p.D366N|SEPT8_ENST00000448933.1_Missense_Mutation_p.D366N|SEPT8_ENST00000378719.2_Missense_Mutation_p.D426N|SEPT8_ENST00000481030.1_5'UTR|SEPT8_ENST00000458488.2_Missense_Mutation_p.D426N|SEPT8_ENST00000378706.1_Missense_Mutation_p.D426N|SEPT8_ENST00000378721.4_Missense_Mutation_p.D424N	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	426					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTTCTTGTCCTTGTCCTTC	0.632000													4	90					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228750084	228750084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228750084G>A	ENST00000373666.2	+	2	694	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	DAW1_ENST00000545118.1_Missense_Mutation_p.E5K|DAW1_ENST00000309931.2_Missense_Mutation_p.E20K					dynein assembly factor with WDR repeat domains 1																		GTTGGAATATGAAAAACATGG	0.338000													4	60					0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576090	115576090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115576090G>A	ENST00000256592.1	+	2	175	c.107G>A	c.(106-108)tGt>tAt	p.C36Y	TSHB_ENST00000369517.1_Missense_Mutation_p.C36Y	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	36					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AGGAGAGAGTGTGCTTATTGC	0.418000													24	179					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7225034	7225034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7225034C>T	ENST00000399464.2	-	18	2959	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	NEURL4_ENST00000570460.1_Missense_Mutation_p.E958K|NEURL4_ENST00000315614.7_Missense_Mutation_p.E980K	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCCATCTCCCCCGGTGCT	0.612000													4	63					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835607	47835607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:47835607C>T	ENST00000289672.2	-	55	8385	c.8335G>A	c.(8335-8337)Gct>Act	p.A2779T	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2779					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCATCTCAGCCTCTTCCAAC	0.398000													9	141					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100723063	100723063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:100723063C>T	ENST00000360820.2	+	13	2164	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	576					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CATCTTATTCCCCTGAGTATT	0.328000													3	99					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578672	24578672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24578672C>T	ENST00000319715.4	+	15	2230	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P600S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	600					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTATAGTGTCCCTCCTCCAGG	0.547000													29	348					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791732	220791732	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:220791732C>G	ENST00000402574.1	+	8	1230	c.228C>G	c.(226-228)aaC>aaG	p.N76K	MARK1_ENST00000366918.4_Missense_Mutation_p.N189K|MARK1_ENST00000366917.4_Missense_Mutation_p.N211K	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	211	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAGTTGGGAACAAATTGGACA	0.413000													5	37					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526505	84526505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:84526505G>A	ENST00000360700.4	+	10	2981	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	ZNF711_ENST00000395402.1_Missense_Mutation_p.D661N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D495N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D653N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D653N			Q9Y462	ZN711_HUMAN	zinc finger protein 711	653					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGGCACTGTGACTTTAAAAC	0.393000													6	24					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101190158	101190158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101190158C>T	ENST00000388798.2	+	4	606	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	SPAG1_ENST00000520508.1_Missense_Mutation_p.H139Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.H139Y|SPAG1_ENST00000520643.1_Missense_Mutation_p.H139Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	139					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CAGCTGTCTTCATGTAGGCAA	0.398000													9	81					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773430	141773430	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141773430C>T	ENST00000389484.3	-	13	2996	c.2025G>A	c.(2023-2025)agG>agA	p.R675R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	675					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)		CCTTCTCAATCCTTCCCACGC	0.403000										TSP Lung(27;0.18)			6	79					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576152	12576152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:12576152G>A	ENST00000397732.3	-	4	755	c.584C>T	c.(583-585)cCt>cTt	p.P195L	ZNF709_ENST00000428311.1_Missense_Mutation_p.P195L|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTCATAAGGTTTCTCTCC	0.408000													8	90					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73720567	73720567	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:73720567C>T	ENST00000427855.1	+	12	1302	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A	PAPLN_ENST00000381166.3_Silent_p.A400A|PAPLN_ENST00000554301.1_Silent_p.A400A|PAPLN_ENST00000340738.5_Silent_p.A373A|PAPLN_ENST00000555445.1_Silent_p.A400A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	400	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGGAGGCCGTGGAGGAGG	0.697000													5	67					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437259	76437259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:76437259C>T	ENST00000389840.5	-	72	11633	c.11509G>A	c.(11509-11511)Ggc>Agc	p.G3837S	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Missense_Mutation_p.G3846S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACTTGCTGCCCATCTTTTCC	0.617000													4	49					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775789	77775789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77775789G>A	ENST00000521891.2	+	11	10287	c.9839G>A	c.(9838-9840)gGa>gAa	p.G3280E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G3235E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G3231E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G3254E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G3264V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTCCCTGGAACAGTGCAG	0.527000										HNSCC(33;0.089)			7	73					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360500	175360500	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:175360500C>T	ENST00000367674.1	-	7	2139	c.1431G>A	c.(1429-1431)ggG>ggA	p.G477G	TNR_ENST00000263525.2_Silent_p.G477G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	477	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTATTCCTCCCCAGGCTTTA	0.572000													8	44					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109771616	109771616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:109771616C>T	ENST00000368952.4	-	8	1425	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	MICAL1_ENST00000358807.3_Missense_Mutation_p.D360N|MICAL1_ENST00000358577.3_Intron			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	360					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGAGACATCAGGCTGCCCA	0.617000													10	84					0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126382316	126382316	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:126382316G>A	ENST00000357061.3	+	0	283					NR_034158.1																						TGCAGGTGGTGGATGCAGAGA	0.557000													13	117					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26505198	26505198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:26505198G>A	ENST00000244513.6	+	3	539	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	158	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CAAGAGAATGGAGAAATCTGT	0.502000													4	51					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670765	95670765	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95670765G>A	ENST00000298912.4	-	9	1034	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	307						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AAGTGGATTCGATAGGAACTT	0.348000													7	52					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540173	111540173	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:111540173A>G	ENST00000261486.5	-	15	1551	c.1275T>C	c.(1273-1275)aaT>aaC	p.N425N	CTC-459M5.2_ENST00000505825.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	425						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACTGGGAGAATTGTAGAGTC	0.507000													6	78					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002119	79002119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:79002119G>A	ENST00000370757.3	+	3	1064	c.827G>A	c.(826-828)gGa>gAa	p.G276E	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.G276E	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	276					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGAATAAATGGAAATCATTCT	0.343000													16	47					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567913	5567913	+	Splice_Site	SNP	C	C	T	rs11546908		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:5567913C>T	ENST00000331789.5	-	4	992	c.802_splice	c.e4+1	p.L267_splice		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	267					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TCCACTCACCCAGGAAGGAAG	0.607000													13	108					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414213	61414213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61414213G>A	ENST00000395348.3	-	5	1207	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L191F	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	191					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GAAGATTGGAGGGGTCTCATC	0.403000													12	84					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232490	5232490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:5232490G>A	ENST00000274181.7	+	12	1849	c.1711G>A	c.(1711-1713)Gga>Aga	p.G571R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	571	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCGGGGAGGACAGTG	0.517000													8	87					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96131410	96131410	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:96131410G>A	ENST00000467865.1	+	0	1818				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GATGCATGGGGAAGGTGAGGC	0.562000			T	TRA@	T-ALL								3	21					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323882	88323882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:88323882C>T	ENST00000418177.2	-	7	1944	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	GRM5_ENST00000305447.4_Missense_Mutation_p.G526E|GRM5_ENST00000305432.5_Missense_Mutation_p.G526E|GRM5_ENST00000393297.1_Missense_Mutation_p.G526E|GRM5_ENST00000455756.2_Missense_Mutation_p.G526E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	526					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGACTTCTCCCTTTCGGAT	0.393000													5	81					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16237594	16237594	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16237594A>G	ENST00000375759.3	+	5	1246		c.e5-1			NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor						interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGGGAATTTAGATACAAGCC	0.303000													4	25					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167319987	167319987	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:167319987G>A	ENST00000308378.3	-	3	485	c.180C>T	c.(178-180)ggC>ggT	p.G60G	WDR49_ENST00000479765.1_Silent_p.G401G|WDR49_ENST00000453925.2_Silent_p.G113G	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	60										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGCTGAGTGGCCCCAAAGGA	0.373000													8	49					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136174	156136174	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:156136174G>A	ENST00000329476.3	+	2	1572	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	NPY2R_ENST00000506608.1_Silent_p.K361K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	361					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGCTAAAAAGAACCTGGAGG	0.483000													4	78					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76830114	76830114	+	Silent	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76830114G>T	ENST00000278559.3	+	9	1395	c.1206G>T	c.(1204-1206)ctG>ctT	p.L402L	CAPN5_ENST00000456580.2_Silent_p.L442L|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.L402L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	402	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ATGAAGTCCTGATCTGCATCC	0.577000													3	37					1	1	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138000129	138000129	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:138000129G>A	ENST00000409968.1	+	10	2431	c.2253G>A	c.(2251-2253)agG>agA	p.R751R	THSD7B_ENST00000272643.3_Silent_p.R751R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.R720R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCCCAAGGATGTGCCAAG	0.478000													6	45					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17728519	17728519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17728519G>A	ENST00000428389.2	-	42	4813	c.4814C>T	c.(4813-4815)tCg>tTg	p.S1605L	UNC13A_ENST00000551649.1_Missense_Mutation_p.S1517L|UNC13A_ENST00000552293.1_Missense_Mutation_p.S1492L|UNC13A_ENST00000519716.2_Missense_Mutation_p.S1517L|UNC13A_ENST00000252773.7_Missense_Mutation_p.S1517L|UNC13A_ENST00000550896.1_Missense_Mutation_p.S1490L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1517	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACCCTGGGCCGATTGCGTCTG	0.622000													6	192					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24524794	24524794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:24524794G>A	ENST00000342740.5	+	9	802	c.648G>A	c.(646-648)tgG>tgA	p.W216*	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	216										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ACAACCAGTGGTTCACCAAAC	0.577000													27	209					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765534	113765534	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113765534C>T	ENST00000259211.6	+	4	801	c.390C>T	c.(388-390)gtC>gtT	p.V130V		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	130					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TCATCGCTGTCAGCTCTGAAG	0.517000													4	65					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880585	200880585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200880585G>A	ENST00000367342.4	+	9	1419	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C1orf106_ENST00000413687.2_Missense_Mutation_p.D322N	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	407										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCAGGGTGGATTCCTTCCG	0.632000													24	267					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155743	111155743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:111155743C>T	ENST00000262839.2	-	3	1594	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	226					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCTTGAGCTCCCAGCCCAGA	0.552000													29	140					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69805411	69805411	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69805411C>T	ENST00000337827.4	+	10	1338	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	GALNT16_ENST00000553669.1_Silent_p.I337I|GALNT16_ENST00000448469.3_Silent_p.I337I	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GTCTGGAGATCGTCCCCTGCA	0.582000													5	146					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166580193	166580193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:166580193G>A	ENST00000296946.2	-	3	826	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	T_ENST00000366871.3_Missense_Mutation_p.P120S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	120					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACGCAGCTGGGCGCCTGCGGC	0.632000									Chordoma, Familial Clustering of				7	86					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121209031	121209031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121209031G>A	ENST00000264233.5	-	16	2875	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	916					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTTACTTCGGACTCACTATG	0.348000								DNA polymerases (catalytic subunits)					19	88					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820859	2820859	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:2820859G>A	ENST00000602557.1	-	61	9897	c.9342C>T	c.(9340-9342)ttC>ttT	p.F3114F	CSMD1_ENST00000537824.1_Silent_p.F3113F|CSMD1_ENST00000520002.1_Silent_p.F3114F|CSMD1_ENST00000602723.1_Silent_p.F2937F|CSMD1_ENST00000542608.1_Silent_p.F2936F|CSMD1_ENST00000400186.3_Silent_p.F2937F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3114	Sushi 25.					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)		AGCCCCAGCGGAAATCACTTC	0.562000													18	180					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44892239	44892239	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:44892239C>T	ENST00000330997.4	-	4	232	c.168G>A	c.(166-168)ttG>ttA	p.L56L	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.L63L|ZNF285_ENST00000544719.2_Silent_p.L56L	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCTGAAGATTCAAAATGTTGT	0.393000													5	77					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78217001	78217001	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:78217001C>T	ENST00000171757.2	+	4	1264	c.984C>T	c.(982-984)ctC>ctT	p.L328L	P2RY10_ENST00000544091.1_Silent_p.L328L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTCCCGCCTCATGAGCAAGG	0.438000													10	53					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15734686	15734686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:15734686C>T	ENST00000281171.4	+	23	3536	c.3206C>T	c.(3205-3207)tCa>tTa	p.S1069L	PTPRO_ENST00000542557.1_Missense_Mutation_p.S230L|PTPRO_ENST00000445537.2_Missense_Mutation_p.S258L|PTPRO_ENST00000442921.2_Missense_Mutation_p.S258L|PTPRO_ENST00000544244.1_Missense_Mutation_p.S230L|PTPRO_ENST00000348962.2_Missense_Mutation_p.S1041L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1069	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAGATGATTTCAGAGGAAGAG	0.483000													7	52					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40367082	40367082	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40367082C>T	ENST00000344138.4	+	8	1250	c.987C>T	c.(985-987)acC>acT	p.T329T	GRAP2_ENST00000399090.2_Silent_p.T216T|GRAP2_ENST00000540310.1_Silent_p.T263T|GRAP2_ENST00000544756.1_Silent_p.T257T|GRAP2_ENST00000543252.1_Silent_p.T277T|GRAP2_ENST00000407075.3_Silent_p.T329T	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	329	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCATGACCCGATAAACTC	0.537000													6	114					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778729	14778729	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:14778729C>T	ENST00000261170.3	-	21	2506	c.2370G>A	c.(2368-2370)agG>agA	p.R790R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	790					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAGCCCTGTCCCTCTCTGCCT	0.453000													14	114					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26878656	26878656	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:26878656T>A	ENST00000381340.3	-	3	622	c.206A>T	c.(205-207)cAg>cTg	p.Q69L	ITPR2_ENST00000242737.5_Missense_Mutation_p.Q69L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	69					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATATTGCTTCTGGGCAGAATA	0.438000													3	38					0	0	1	0	0
MIR517B	574483	broad.mit.edu	37	19	54224369	54224369	+	RNA	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54224369A>G	ENST00000385102.1	+	0	40					NR_030205.1																						TGTCTAAGAAAAGATCGTGCA	0.408000													26	190					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60139793	60139793	+	Silent	SNP	C	C	T	rs115951404	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:60139793C>T	ENST00000371218.4	+	15	1756	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	FGGY_ENST00000371212.1_Silent_p.F412F|FGGY_ENST00000371210.1_Silent_p.F201F|FGGY_ENST00000303721.7_Silent_p.F500F	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	500					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGGGGATTTCGCTTCTGTAC	0.577000													3	38					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269343	43269343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43269343G>A	ENST00000372585.5	+	7	1069	c.974G>A	c.(973-975)gGg>gAg	p.G325E	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G323E|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G323E|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	325						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)			GTGGCCGCCGGGGAACGGGTG	0.587000													4	51					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178391919	178391919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:178391919C>T	ENST00000320129.3	+	5	817	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.Q172*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGGGATTTCAACCTAGCAA	0.413000													12	57					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169571510	169571510	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169571510G>A	ENST00000305747.6	+	7	1196		c.e7-1		CERS6_ENST00000392687.4_Splice_Site	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6							endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTTTCCTCAAGGACTTTGGCA	0.403000													12	140					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106764	55106764	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55106764C>T	ENST00000453777.1	+	5	728	c.558C>T	c.(556-558)ccC>ccT	p.P186P	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.P186P|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	186	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTGGGCCCCGTGAGCCCGA	0.577000													14	177					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282350	28282350	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:28282350C>T	ENST00000373894.3	+	6	1037	c.846C>T	c.(844-846)agC>agT	p.S282S	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.S234S|SMPDL3B_ENST00000373888.4_Silent_p.S282S	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	282					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ACACCGACAGCTTTCGGATGC	0.567000													8	88					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996298	4996298	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4996298G>A	ENST00000380051.2	-	7	824	c.780C>T	c.(778-780)ttC>ttT	p.F260F	RPP40_ENST00000319533.5_Silent_p.F237F|RPP40_ENST00000464646.1_Silent_p.F200F	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	260					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				AGGTTGATATGAAATTATTAG	0.368000													7	62					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916441	150916441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:150916441G>A	ENST00000309180.5	-	3	963	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	245						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGGTATACGGGATTCGGACA	0.438000													11	95					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396104	10396104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10396104C>T	ENST00000328655.3	+	5	900	c.860C>T	c.(859-861)tCg>tTg	p.S287L	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	287	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATATACACCTCGTTGGTGAAC	0.527000													5	112					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656290	19656290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19656290G>A	ENST00000586018.1	+	8	3056	c.2954G>A	c.(2953-2955)cGa>cAa	p.R985Q	CILP2_ENST00000291495.4_Missense_Mutation_p.R979Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	979						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGAGTGTGCGAGACCCCGAG	0.677000													4	46					0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101540168	101540168	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101540168G>A	ENST00000520311.1	-	4	1178	c.375C>T	c.(373-375)atC>atT	p.I125I	ANKRD46_ENST00000519316.1_Intron|ANKRD46_ENST00000520552.1_Silent_p.I125I|ANKRD46_ENST00000335659.3_Silent_p.I125I|ANKRD46_ENST00000519597.1_Silent_p.I125I	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	125						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCAGCAATCGGATGACATCTT	0.378000													12	107					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839552	233839552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:233839552C>T	ENST00000264051.3	-	2	327	c.49G>A	c.(49-51)Gca>Aca	p.A17T		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	17	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGATCACTTGCTGATTTCCTC	0.453000													3	89					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43922587G>A	ENST00000329196.5	+	1	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000													7	88					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079087	122079087	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:122079087C>T	ENST00000330079.7	+	2	643	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	148					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TGCCCAACATCGAGGCGGTGA	0.622000													5	87					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3688073	3688073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:3688073G>A	ENST00000294600.2	+	12	2041	c.1957G>A	c.(1957-1959)Ggg>Agg	p.G653R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	653										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATCCAAGAAGGGGACCTCCAA	0.612000													8	85					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283541	152283541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152283541C>T	ENST00000368799.1	-	3	3856	c.3821G>A	c.(3820-3822)aGt>aAt	p.S1274N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1274	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTGTCACTGTCCTGGCT	0.557000									Ichthyosis				36	315					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915214	915214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:915214G>A	ENST00000544583.2	-	19	2434	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	ABR_ENST00000302538.5_Missense_Mutation_p.S658F|ABR_ENST00000572441.1_Missense_Mutation_p.S109F|ABR_ENST00000291107.2_Missense_Mutation_p.S621F|ABR_ENST00000574437.1_Missense_Mutation_p.S612F|ABR_ENST00000543210.2_Missense_Mutation_p.S109F|ABR_ENST00000536794.2_Missense_Mutation_p.S440F	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	658					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGCACCTTGGAGCGCTCCCG	0.647000													12	142					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169201578	169201578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:169201578G>A	ENST00000393743.3	-	14	2177	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	629							ATP binding|ATP-dependent helicase activity|RNA binding	p.S629F(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTTTTACAGGATTTCAAAAA	0.373000													6	47					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149924	34149924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:34149924C>T	ENST00000346193.3	-	1	523	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	158										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCTCCAGCTCCCTCTCAGGA	0.547000													4	24					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110809049	110809049	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:110809049G>A	ENST00000282356.4	+	8	1064	c.666G>A	c.(664-666)gtG>gtA	p.V222V	CAMK4_ENST00000512453.1_Silent_p.V222V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	222	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GACCTGAGGTGGACATGTGGT	0.333000													10	84					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992363	39992363	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:39992363C>T	ENST00000332312.3	-	3	621	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	143						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTCAGGCTCCAGCTGGGGTG	0.652000													9	116					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52713040	52713040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52713040C>T	ENST00000293670.3	-	2	555	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	165	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGAGTCTCGATGTAGCCA	0.602000													18	178					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264536	42264536	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:42264536C>T	ENST00000327628.5	+	16	2569	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S	TRAK1_ENST00000396175.1_Silent_p.S665S|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGGCTGAGTCCTTCACTAACA	0.607000													9	93					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629807	32629807	+	Missense_Mutation	SNP	C	C	T	rs9273943		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32629807C>T	ENST00000399084.1	-	4	776	c.598G>A	c.(598-600)Gga>Aga	p.G200R	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.G200R|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.G110R|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.G200R|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.G200R			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	200	Beta-2.|Ig-like C1-type.		GD -> A (in allele DQB1*03:09).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGACATCTCCACGCTGGGGA	0.567000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				17	114					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823168	38823168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:38823168C>T	ENST00000303592.3	-	2	1228	c.970G>A	c.(970-972)Gag>Aag	p.E324K	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	324					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)					CTCTTCTCCTCGAAGACCACA	0.642000													5	41					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235881	23235881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23235881G>A	ENST00000285848.5	+	1	151	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TTACTGCGCAGGCGCAAAAGC	0.577000													15	150					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81577238	81577238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:81577238C>T	ENST00000327835.3	-	6	970	c.739G>A	c.(739-741)Gca>Aca	p.A247T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	247						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AGCCCGTCTGCCACTGAGTCT	0.522000													6	72					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520640	33520640	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33520640C>T	ENST00000297307.5	-	1	772	c.687G>A	c.(685-687)gtG>gtA	p.V229V		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	229						integral to membrane											CCAGCAGCCCCACCAAGCCAG	0.632000													8	101					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746662	196746662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196746662G>A	ENST00000312428.6	-	36	5918	c.5818C>T	c.(5818-5820)Cct>Tct	p.P1940S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1940	AAA 3 (By similarity).		P -> L (in dbSNP:rs2375544).		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						ACATCTTTAGGAATTGGAGGA	0.338000													10	69					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717256	142717256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:142717256C>T	ENST00000381779.4	-	2	1894	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E557K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E557K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	557	LRRCT 2.					integral to membrane		p.E557*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATTTCAGTTCTTTCACAACA	0.448000													14	62					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166025	71166025	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:71166025G>A	ENST00000357585.2	+	2	936	c.567G>A	c.(565-567)ggG>ggA	p.G189G	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.G189G	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	189					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ACCAGTGGGGGAGAAGCAGCT	0.562000													4	62					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416641	145416641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:145416641G>A	ENST00000336751.5	+	4	1224	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	HFE2_ENST00000497365.1_Missense_Mutation_p.R103Q|HFE2_ENST00000357836.5_Missense_Mutation_p.R216Q|HFE2_ENST00000475797.1_Missense_Mutation_p.R103Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	329					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGACTCTCTCGATCAGAGCGC	0.552000													11	60					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476507	17476507	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17476507T>C	ENST00000252590.4	-	3	828	c.767A>G	c.(766-768)aAc>aGc	p.N256S		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	256						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGGTAGAGGTTGTAACCCAG	0.612000													14	143					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171761353	171761353	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171761353C>T	ENST00000361735.3	+	6	1937	c.1671C>T	c.(1669-1671)gcC>gcT	p.A557A	METTL13_ENST00000458517.1_Silent_p.A556A|METTL13_ENST00000367737.5_Silent_p.A401A|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.A471A	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	557							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACTATATCGCCAGCTTGGCAG	0.547000													14	107					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313818	57313818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57313818G>A	ENST00000457912.1	+	6	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E396K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E359K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	396										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAAAAAATACGAGGTGGGCAT	0.622000													3	15					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52144205	52144205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:52144205G>A	ENST00000596288.1	-	5	886	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	MCM3_ENST00000419835.2_Missense_Mutation_p.R196C|MCM3_ENST00000229854.7_Missense_Mutation_p.R242C|MCM3_ENST00000476448.1_5'UTR	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	242			F -> L (in dbSNP:rs2307328).		cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGAAGGCAACGGTAGGTTCCC	0.552000													7	59					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340247	55340247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55340247C>T	ENST00000314634.3	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTAATATTCTCCTATGTCATC	0.418000													3	32					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499825	1499825	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1499825C>A	ENST00000345913.4	+	12	2162	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M	TPO_ENST00000329066.4_Missense_Mutation_p.L691M|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.L634M|TPO_ENST00000346956.3_Missense_Mutation_p.L691M|TPO_ENST00000337415.3_Missense_Mutation_p.L691M|TPO_ENST00000382198.1_Missense_Mutation_p.L518M|TPO_ENST00000349624.3_Missense_Mutation_p.L518M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	691					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAAGCACTCCCTGTCTCGGGT	0.552000													5	43					2.7689e-08	2.79826e-08	1	1	0
SESTD1	91404	broad.mit.edu	37	2	179989173	179989173	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179989173A>C	ENST00000428443.3	-	11	1401	c.1085T>G	c.(1084-1086)gTt>gGt	p.V362G		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	362					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCGATAACAAACATCACTAAG	0.418000													7	66					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44699028	44699028	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44699028G>A	ENST00000290231.6	-	3	350	c.186C>T	c.(184-186)gaC>gaT	p.D62D		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	62	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TATGTCTGTGGTCCCGCAAGT	0.567000													18	152					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645922	19645922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19645922G>A	ENST00000555938.1	+	5	407	c.395G>A	c.(394-396)gGg>gAg	p.G132E	YJEFN3_ENST00000436027.4_Missense_Mutation_p.G83E|YJEFN3_ENST00000514277.3_Missense_Mutation_p.G133E																							GGGGCAGTGGGGCTGGTCTGT	0.627000													16	150					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649692	7649692	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7649692G>A	ENST00000359156.4	-	5	1018	c.816C>T	c.(814-816)gtC>gtT	p.V272V	CD163_ENST00000432237.2_Silent_p.V272V|CD163_ENST00000396620.3_Silent_p.V272V|CD163_ENST00000541972.1_Silent_p.V260V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	272	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACATTCAGTGACTCCATCTA	0.473000													6	129					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102815	61102815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:61102815C>T	ENST00000196169.3	+	11	1965	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	TDRD3_ENST00000377894.2_Missense_Mutation_p.P393S|TDRD3_ENST00000377881.2_Missense_Mutation_p.P393S|TDRD3_ENST00000535286.1_Missense_Mutation_p.P486S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	393					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TACTTCATATCCTTTAGGTTC	0.373000													4	61					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111312580C>T	ENST00000317012.4	-	2	1477	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	157							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000													19	134					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083328	91083328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:91083328C>T	ENST00000420329.2	+	2	337	c.190C>T	c.(190-192)Cca>Tca	p.P64S	CRTC3_ENST00000560098.1_Missense_Mutation_p.P64S|CRTC3_ENST00000268184.6_Missense_Mutation_p.P64S|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	64	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGATCCTTACCAAATGTGAG	0.433000			T	MAML2	salivary gland mucoepidermoid								6	65					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823155	97823155	+	Silent	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:97823155C>A	ENST00000297293.5	+	11	3671	c.3378C>A	c.(3376-3378)tcC>tcA	p.S1126S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1126					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCTCCCCATCCGCCTTGGTGT	0.607000													4	86					0.217242	0.217502	1	1	0
TNNI2	7136	broad.mit.edu	37	11	1862075	1862075	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1862075G>A	ENST00000381906.1	+	6	282	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TNNI2_ENST00000252898.7_Silent_p.K71K|TNNI2_ENST00000381911.1_Silent_p.K71K|TNNI2_ENST00000381905.3_Silent_p.K71K	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	71					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCACGCCAAGATCGATGCGG	0.672000													5	65					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063911	74063911	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:74063911C>A	ENST00000370370.3	-	1	107	c.38G>T	c.(37-39)tGg>tTg	p.W13L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	13					multicellular organismal development	cytoplasm	RNA binding	p.W13L(1)		NS(1)|endometrium(1)|lung(5)	7						AACTTTCACCCACGGCGGGAT	0.582000													6	65					0.000274275	0.000275854	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1057927	1057927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1057927C>T	ENST00000263094.6	+	36	5125	c.4894C>T	c.(4894-4896)Ccg>Tcg	p.P1632S	ABCA7_ENST00000435683.2_Missense_Mutation_p.P1494S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1632S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1632					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGATCACACCGCTCATGTA	0.507000													11	169					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48177869	48177869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:48177869G>A	ENST00000311303.3	-	2	572	c.227C>T	c.(226-228)aCc>aTc	p.T76I	ABCC12_ENST00000416054.1_Missense_Mutation_p.T76I|ABCC12_ENST00000448542.1_Missense_Mutation_p.T76I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	76						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGGGGCAGGGTGTCTACGGT	0.527000													8	97					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6883975	6883975	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6883975C>T	ENST00000203629.2	+	4	1059	c.726C>T	c.(724-726)atC>atT	p.I242I	LAG3_ENST00000441671.2_Silent_p.I242I	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	242	Ig-like C2-type 1.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGCTGCATCCTCACCTACA	0.572000													15	107					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													24	133					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36767754	36767754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:36767754G>A	ENST00000244751.2	-	4	901	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	93	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGATCAAAACGGAGGTTCTGC	0.517000													4	74					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135368926	135368926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:135368926C>T	ENST00000368517.3	-	12	877	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.E247K|SYCE1_ENST00000343131.5_Missense_Mutation_p.E283K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	283					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCATGCTTTTCCAGCTCTTCC	0.562000													5	83					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99505667	99505667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:99505667G>A	ENST00000376460.1	-	35	4021	c.3941C>T	c.(3940-3942)tCt>tTt	p.S1314F	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1315F|DOCK9_ENST00000448493.2_Missense_Mutation_p.S1326F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1315					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTACCATCAGACATGCTCTT	0.368000													14	153					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106704926	106704926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:106704926G>A	ENST00000546625.1	+	2	232	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	TCP11L2_ENST00000547153.1_Missense_Mutation_p.E25K|TCP11L2_ENST00000299045.3_Missense_Mutation_p.E25K			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	25	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CCGGTTTTCCGAAAGCATGGC	0.522000													8	91					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139790936	139790936	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139790936G>A	ENST00000397560.2	-	20	2881	c.2784C>T	c.(2782-2784)atC>atT	p.I928I		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		928					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAACTTAAGGATCTTCCCAA	0.443000													16	96					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65722340	65722340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:65722340C>T	ENST00000308259.5	+	4	494	c.220C>T	c.(220-222)Cct>Tct	p.P74S	MSRB3_ENST00000535664.1_Missense_Mutation_p.P74S|MSRB3_ENST00000355192.3_Missense_Mutation_p.P81S|MSRB3_ENST00000540804.1_Missense_Mutation_p.P81S	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	81					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TCACAAAGATCCTGGAATATA	0.308000													10	75					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977073	107977073	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:107977073T>C	ENST00000372129.2	-	1	2578	c.2502A>G	c.(2500-2502)ggA>ggG	p.G834G		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	834						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCAGGAACTTTCCAGGTAACA	0.493000													36	159					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394618	233394618	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233394618G>A	ENST00000258229.8	-	5	1224	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	330						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTACCTGACAGGATGTGTCTG	0.557000													4	74					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654470	46654470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:46654470C>T	ENST00000253255.5	-	1	4749	c.4750G>A	c.(4750-4752)Gtt>Att	p.V1584I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1584					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAGCAAAAACCAAAAACCAT	0.423000													10	88					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203480	140203480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140203480C>T	ENST00000529859.1	+	1	2120	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S707F|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S707F|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCGGTGTCCAGCCTGCTG	0.692000													17	108					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509263	22509263	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22509263C>T	ENST00000390448.3	+	0	270																											GCCCTGAATTCCTCTTCACCC	0.473000													3	8					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127961427	127961427	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:127961427G>A	ENST00000223073.1	-	14	1569	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	RBM28_ENST00000415472.2_Silent_p.S344S|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	485					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCCTGGTTCGGGAGACAAAGA	0.473000													5	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076530	9076530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9076530C>T	ENST00000397910.4	-	3	11119	c.10916G>A	c.(10915-10917)gGa>gAa	p.G3639E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3640	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						CAGGCTGGTTCCAATGACAGT	0.448000													3	44					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116100456	116100456	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:116100456G>A	ENST00000369271.3	-	2	351	c.51C>T	c.(49-51)ttC>ttT	p.F17F	AFAP1L2_ENST00000304129.4_Silent_p.F17F|AFAP1L2_ENST00000545353.1_Silent_p.F17F	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	17					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAATCTTGAGGAAGTCATCCA	0.537000													6	64					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117977619	117977619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:117977619G>A	ENST00000425217.1	-	10	1559	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	KSR2_ENST00000302438.5_Missense_Mutation_p.S228L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.S531L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	531					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCTGGCGAGGAGGGCGT	0.632000													7	88					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805058	43805058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43805058C>T	ENST00000372470.3	+	4	550	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	MPL_ENST00000413998.2_Missense_Mutation_p.R170C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	170	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTACGAACTCCGCTATGGCCC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						13	91					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31151930	31151930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31151930C>T	ENST00000268281.4	-	13	2108	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Missense_Mutation_p.E679K	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	684	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GAGCTCAGCTCCAGGAGGGCC	0.711000													4	22					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349236	38349236	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38349236G>A	ENST00000436615.3	+	13	1675	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	RAPGEFL1_ENST00000264644.6_Silent_p.E395E|RAPGEFL1_ENST00000456989.2_Silent_p.E450E|RAPGEFL1_ENST00000544503.1_Silent_p.E444E	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	601					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	p.E395E(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGAACATCGAGAAGCTGGTGA	0.517000													16	165					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307940	117307940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:117307940C>T	ENST00000321322.6	-	26	4799	c.4798G>A	c.(4798-4800)Gaa>Aaa	p.E1600K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1330K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1540					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTCGCAGTTCCGTCAGAAAC	0.652000													6	156					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50763788	50763788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:50763788G>A	ENST00000300589.2	+	11	3131	c.3026G>A	c.(3025-3027)aGg>aAg	p.R1009K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1009					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCCTTGAAAGGAATGACACC	0.507000													6	58					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7092468	7092468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7092468C>T	ENST00000299481.4	+	12	3557	c.3211C>T	c.(3211-3213)Cca>Tca	p.P1071S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1071					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTTAGCAATCCACACTTAAT	0.403000													11	65					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104269022	104269022	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:104269022C>T	ENST00000369902.3	+	2	445	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SUFU_ENST00000423559.2_Silent_p.F93F|SUFU_ENST00000369899.2_Silent_p.F93F	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	93					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			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)		acatcagcttcggcctgagtg	0.532000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				16	184					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348599	140348599	+	Missense_Mutation	SNP	G	G	A	rs141580195		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140348599G>A	ENST00000289269.5	+	1	2780	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		750					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTAAGGGAAAGGTCCCC	0.458000													4	70					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498690	6498690	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:6498690T>C	ENST00000263125.5	-	15	1692	c.1593A>G	c.(1591-1593)ttA>ttG	p.L531L	PRKCQ_ENST00000539722.1_Silent_p.L406L|PRKCQ_ENST00000397176.2_Silent_p.L531L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	531	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGCATCTCCTAACATGTTCT	0.493000													4	63					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74109758	74109758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74109758C>T	ENST00000389156.4	-	6	667	c.577G>A	c.(577-579)Gat>Aat	p.D193N	FAM169A_ENST00000510496.1_Intron|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	193										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AGCCCAAAATCTTTACCTCTG	0.398000													7	79					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390996	49390996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:49390996C>T	ENST00000421952.2	-	2	1684	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	555	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGTTTACTTCGGGGGCCGGG	0.731000													3	54					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087298	92087298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:92087298G>A	ENST00000298047.6	+	1	2037	c.2020G>A	c.(2020-2022)Ggg>Agg	p.G674R	FAT3_ENST00000409404.2_Missense_Mutation_p.G674R|FAT3_ENST00000541502.1_Missense_Mutation_p.G674R|FAT3_ENST00000525166.1_Missense_Mutation_p.G524R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	674	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTCCTACATGGGAAAGTGTC	0.408000										TCGA Ovarian(4;0.039)			4	29					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39923647	39923647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39923647C>T	ENST00000393931.3	-	5	1011	c.893G>A	c.(892-894)gGc>gAc	p.G298D	JUP_ENST00000310706.5_Missense_Mutation_p.G298D|JUP_ENST00000393930.1_Missense_Mutation_p.G298D|JUP_ENST00000540235.1_Missense_Mutation_p.G298D	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	298					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCCTGGTTGCCGTAGGCCAG	0.647000													5	74					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100327056	100327056	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:100327056T>A	ENST00000361522.4	+	1	291	c.29T>A	c.(28-30)tTa>tAa	p.L10*	AGL_ENST00000361302.3_Intron|AGL_ENST00000370161.2_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000361915.3_Intron|AGL_ENST00000294724.4_Intron|AGL_ENST00000370163.3_Intron	NM_000645.2	NP_000636.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	0					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCTTTTTATTTAGGGTATGAG	0.313000													6	24					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115489885	115489885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115489885C>T	ENST00000369522.3	+	27	2506	c.2266C>T	c.(2266-2268)Ctc>Ttc	p.L756F	SYCP1_ENST00000369518.1_Missense_Mutation_p.L756F	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	756					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTATCCAATCTCAAAGCTGA	0.318000													10	57					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216405	20216405	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20216405C>T	ENST00000331723.1	+	1	819	c.819C>T	c.(817-819)tcC>tcT	p.S273S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCTCCTTGTTTTACA	0.433000													6	64					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266134	48266134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48266134G>A	ENST00000225964.5	-	42	3186	c.3068C>T	c.(3067-3069)tCc>tTc	p.S1023F		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1023	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCGTCCAGGGGAACCTTCGGC	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						9	106					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628027	187628027	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187628027G>A	ENST00000441802.2	-	2	3164	c.2955C>T	c.(2953-2955)atC>atT	p.I985I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	985	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCTGGACGATCCTAACTG	0.468000										HNSCC(5;0.00058)			11	91					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324390	7324390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7324390C>T	ENST00000318881.6	+	2	503	c.266C>T	c.(265-267)tCt>tTt	p.S89F	SYT9_ENST00000396716.2_Missense_Mutation_p.S57F	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	89						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGCCTGCCCTCTGGTAGCAAA	0.557000													4	91					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782054	107782054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:107782054C>T	ENST00000311955.3	-	1	419	c.365G>A	c.(364-366)gGg>gAg	p.G122E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	122					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTCACGTCCCCTCCTCTCTC	0.532000													17	132					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673247	141673247	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141673247G>A	ENST00000547270.1	-	1	326	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	81					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)					TCAACTTCTGGAAGTGGGTAA	0.527000													15	177					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218280	244218280	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:244218280T>C	ENST00000358704.4	+	2	1353	c.1204T>C	c.(1204-1206)Ttc>Ctc	p.F402L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		GAGCACGCACTTCCGCGAGCA	0.622000													11	68					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150174830G>A	ENST00000307271.3	+	5	2534	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	654						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000													8	77					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637282	39637282	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39637282C>A	ENST00000393989.1	-	1	110	c.68G>T	c.(67-69)gGg>gTg	p.G23V	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	23	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGTGGAGCCCCCACTGGCCCC	0.577000													10	110					2.32078e-09	2.34709e-09	1	1	0
MFSD6	54842	broad.mit.edu	37	2	191301865	191301865	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:191301865C>T	ENST00000392328.1	+	3	1434	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	MFSD6_ENST00000281416.7_Silent_p.I370I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	370					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATTACCAGATCGTCTTCATCG	0.517000													3	35					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686587	100686587	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100686587C>A	ENST00000306151.4	+	3	11954	c.11890C>A	c.(11890-11892)Cct>Act	p.P3964T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3964						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)					TGTATCTACCCCTGTGATAAC	0.448000													5	142					0.307466	0.30776	1	1	0
PCLO	27445	broad.mit.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82584459C>T	ENST00000423517.2	-	5	6147	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1937Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1868					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						CACTTCATCTCGTTCATTTGC	0.363000													8	24					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880426	101880426	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101880426G>A	ENST00000551346.1	+	6	783	c.624G>A	c.(622-624)ggG>ggA	p.G208G	SPIC_ENST00000299272.5_Silent_p.G208G			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	208						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATTTCCTGGGGAAAGAGATCT	0.388000													13	153					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525106	248525106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248525106C>T	ENST00000366475.1	+	1	224	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGGAAATGCTGTCCTGATC	0.463000													8	234					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826330	143826330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143826330G>A	ENST00000408899.2	+	1	180	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTGGGGAATGGGGTCATCTTT	0.502000													19	174					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39537338	39537338	+	Silent	SNP	C	C	T	rs145004450		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39537338C>T	ENST00000394001.1	-	3	714	c.684G>A	c.(682-684)gaG>gaA	p.E228E		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	228	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGCAGATCAGCTCCTCCCTCA	0.512000													10	199					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200593	52200593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52200593G>A	ENST00000354534.5	+	27	5501	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1734K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1775					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCACAGAGGAAAGTGCAGA	0.463000													14	175					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44490126	44490126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:44490126G>A	ENST00000425708.2	-	7	1378	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	ZNF445_ENST00000396077.2_Missense_Mutation_p.S346F			P59923	ZN445_HUMAN	zinc finger protein 445	346					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AATTCCCTCAGAAACACTTGT	0.408000													14	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060189	9060189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9060189G>A	ENST00000397910.4	-	3	27460	c.27257C>T	c.(27256-27258)cCt>cTt	p.P9086L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9088	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						TGTAGCCCCAGGAGAACCTGT	0.468000													8	111					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112360	248112360	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248112360C>T	ENST00000357191.3	+	1	201	c.201C>T	c.(199-201)ctC>ctT	p.L67L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCTCTCCCTCATTGACCTAA	0.443000													41	337					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63953993	63953993	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:63953993G>A	ENST00000443617.2	-	45	9216	c.9129C>T	c.(9127-9129)taC>taT	p.Y3043Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3043					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.Y3043*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATGGCTAAGTACTTCTCCC	0.453000													7	95					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101016271C>T	ENST00000360863.6	-	17	2704	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_ENST00000523437.1_Missense_Mutation_p.R825Q|RGS22_ENST00000523287.1_Missense_Mutation_p.R656Q|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353000													5	69					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135078814	135078814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:135078814C>T	ENST00000428680.2	-	10	1753	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.A495T|CNOT4_ENST00000541284.1_Missense_Mutation_p.A495T|CNOT4_ENST00000361528.4_Missense_Mutation_p.A492T|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.A495T|CNOT4_ENST00000451834.1_Missense_Mutation_p.A492T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	495					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TAGCGGGCTGCCTGGCCTGGA	0.468000													8	55					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30105123	30105123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:30105123G>A	ENST00000396581.1	+	2	696	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	TRIM40_ENST00000376724.2_Missense_Mutation_p.E104K|TRIM40_ENST00000307859.4_Missense_Mutation_p.E104K			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	104						intracellular	zinc ion binding			ovary(1)	1						GTCTCATCATGAACTGACCAT	0.552000													9	129					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34649471	34649471	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:34649471C>T	ENST00000378842.3	+	10	1011	c.969C>T	c.(967-969)taC>taT	p.Y323Y	GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR|GALT_ENST00000450095.2_Silent_p.Y214Y	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	323			Y -> D (in GALCT).|Y -> H (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCATTACTACCCTCCGCTCC	0.587000									Galactosemia				20	122					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547341	43547341	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43547341C>T	ENST00000400427.1	+	18	4083	c.3687C>T	c.(3685-3687)ttC>ttT	p.F1229F	UMODL1_ENST00000408989.2_Silent_p.F1301F|UMODL1_ENST00000408910.2_Silent_p.F1173F|UMODL1_ENST00000400424.1_Silent_p.F1101F|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1173	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTTCAGCTTCATTAACAACA	0.557000													8	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060158	9060158	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9060158C>T	ENST00000397910.4	-	3	27491	c.27288G>A	c.(27286-27288)ttG>ttA	p.L9096L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9098	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						TTGAAGTGTCCAAGGTAAGGG	0.483000													8	93					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366238	100366238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:100366238C>T	ENST00000294724.4	+	26	3887	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	AGL_ENST00000361302.3_Missense_Mutation_p.P1121S|AGL_ENST00000370161.2_Missense_Mutation_p.P1121S|AGL_ENST00000370165.3_Missense_Mutation_p.P1137S|AGL_ENST00000361915.3_Missense_Mutation_p.P1137S|AGL_ENST00000361522.4_Missense_Mutation_p.P1120S|AGL_ENST00000370163.3_Missense_Mutation_p.P1137S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1137					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTCTCATTCCTAATCTACT	0.388000													44	251					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421396	55421396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55421396G>A	ENST00000594765.1	+	5	678	c.653G>A	c.(652-654)aGc>aAc	p.S218N	NCR1_ENST00000338835.5_Missense_Mutation_p.S218N|NCR1_ENST00000291890.4_Missense_Mutation_p.S218N|NCR1_ENST00000350790.5_Missense_Mutation_p.S123N|NCR1_ENST00000447255.1_Missense_Mutation_p.S218N|NCR1_ENST00000357397.5_Missense_Mutation_p.S111N|NCR1_ENST00000598576.1_Missense_Mutation_p.S206N			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	218					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGAACACCAGCCTTGCACCT	0.433000													13	201					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6086614	6086614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:6086614C>T	ENST00000409021.3	-	5	1362	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E305K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E140K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E305K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E140K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	305	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTGTCTTCCAGCTTCCGT	0.443000													23	291					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064199	9064199	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9064199G>A	ENST00000397910.4	-	3	23450	c.23247C>T	c.(23245-23247)acC>acT	p.T7749T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7751	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						TCTCATGGGAGGTGGTGCTCA	0.517000													19	152					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67681173	67681173	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:67681173C>T	ENST00000335894.4	+	12	1527	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	IQCH_ENST00000358767.3_Silent_p.A314A|IQCH_ENST00000546225.1_Silent_p.A235A|IQCH_ENST00000360277.4_Silent_p.A239A	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	487										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTTAGATGCCAATGTGAATG	0.378000													6	58					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746302	23746302	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23746302A>T	ENST00000357460.5	-	2	299	c.135T>A	c.(133-135)ccT>ccA	p.P45P	HOMEZ_ENST00000431326.2_Silent_p.P47P|HOMEZ_ENST00000561013.1_Silent_p.P47P	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGAGATTGGAGGGAGGCAGA	0.532000													3	40					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370014	11370014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11370014G>A	ENST00000435245.2	-	1	323	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.R72C			P04554	PRM2_HUMAN	protamine 2	72					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CTGCAGGAGCGATGCTGCCGC	0.652000													9	72					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487693	131487693	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131487693C>T	ENST00000309926.4	+	1	1051	c.969C>T	c.(967-969)cgC>cgT	p.R323R		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	323						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACCTGCTCCGCTACCGGCAGC	0.567000													8	59					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051673	22051673	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:22051673T>A	ENST00000306385.5	+	10	1953	c.1283T>A	c.(1282-1284)tTt>tAt	p.F428Y	BMP1_ENST00000397814.3_Missense_Mutation_p.F428Y|BMP1_ENST00000397816.3_Missense_Mutation_p.F428Y|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.F428Y	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	428	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAGGGCTTCTTTGCAGTCTAC	0.587000													4	86					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153930	5153930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:5153930G>A	ENST00000252321.3	+	1	846	c.617G>A	c.(616-618)gGg>gAg	p.G206E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	206						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TACCAGCTGGGGGACGAGGCC	0.627000													6	52					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656616	31656616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31656616G>A	ENST00000375494.3	+	10	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	329					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CAGGCCCTGGGGAAGCTGCCC	0.582000													3	53					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924966	190924966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:190924966C>T	ENST00000260950.4	-	2	701	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	190					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTCAGAGATCGGATTCCAGT	0.428000													14	102					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020585	32020585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32020585G>A	ENST00000375244.3	-	26	9178	c.8977C>T	c.(8977-8979)Ccc>Tcc	p.P2993S	TNXB_ENST00000375247.2_Missense_Mutation_p.P2991S			P22105	TENX_HUMAN	tenascin XB	3038					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCACCTGGGGCCGCCCGTCC	0.662000													9	59					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654799	29654799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:29654799C>T	ENST00000358273.4	+	38	5934	c.5551C>T	c.(5551-5553)Cct>Tct	p.P1851S	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.P1830S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1851					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAGATGTCCCTGGGACACT	0.458000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	103					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910707	59910707	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:59910707G>A	ENST00000396065.1	+	3	718	c.270G>A	c.(268-270)gaG>gaA	p.E90E	GCNT3_ENST00000560585.1_Silent_p.E90E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	90					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATAACCTGGAGGTCAAGAAGA	0.498000													7	94					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078573	133078573	+	Missense_Mutation	SNP	G	G	A	rs149351884		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:133078573G>A	ENST00000326499.6	-	2	450	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.P56L|VNN2_ENST00000525289.1_Missense_Mutation_p.P109L	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	109	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418000													10	50					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16810706	16810706	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:16810706C>T	ENST00000355661.3	-	23	3304	c.3294G>A	c.(3292-3294)ggG>ggA	p.G1098G	PLEKHA7_ENST00000531066.1_Silent_p.G1098G|PLEKHA7_ENST00000448080.2_Silent_p.G1099G|PLEKHA7_ENST00000532079.1_3'UTR|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1098					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGTCCTCTCCCCTTGGCCCA	0.647000													8	58					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39018824	39018824	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39018824G>A	ENST00000251643.4	-	7	1403	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	460	Tail.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TACCTTTAGAGGAATCAGTTG	0.358000													14	159					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288265	132288265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:132288265G>A	ENST00000467992.2	+	1	1029	c.715G>A	c.(715-717)Gag>Aag	p.E239K	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.E137K			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	137										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGCTGAAGGAGGGCTCCTC	0.662000													8	113					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320514	79320514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79320514G>A	ENST00000428286.1	-	8	6799	c.5599C>T	c.(5599-5601)Cca>Tca	p.P1867S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2226S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2226					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAATCCTTGGGATTCTTCTG	0.423000													3	69					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770288	38770288	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38770288G>A	ENST00000449082.2	-	15	2384	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	795					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACAATGATGGCCAGGATGA	0.522000													10	105					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:18554486G>A	ENST00000251296.1	+	2	548	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	55	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000													10	77					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28623828	28623828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28623828G>A	ENST00000380982.4	-	7	907	c.826C>T	c.(826-828)Cat>Tat	p.H276Y	FLT3_ENST00000241453.7_Missense_Mutation_p.H276Y|FLT3_ENST00000537084.1_Missense_Mutation_p.H276Y			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	276	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTCACATGAACAGCTTTG	0.398000			"""Mis, O"""		"""AML, ALL"""								11	73					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47433000	47433000	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47433000C>T	ENST00000285039.7	-	19	2502	c.2202_splice	c.e19-1	p.D735_splice		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	735	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTCGGGGTCCTTTACAAGG	0.567000													10	61					0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	298561	298561	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:298561C>T	ENST00000382614.2	-	2	374	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	113					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTTGGCCAGCCGGGCCAGGT	0.632000													3	36					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672913	27672913	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27672913G>A	ENST00000260570.3	-	36	4105	c.4002C>T	c.(4000-4002)gtC>gtT	p.V1334V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1334					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCCAGAACGACTTCCATAT	0.473000													13	84					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829070	57829070	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57829070C>G	ENST00000371030.2	+	5	4306	c.4306C>G	c.(4306-4308)Ccc>Gcc	p.P1436A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1436						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTGCCTCTACCCCCTGGCAA	0.527000													4	57					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96354526	96354526	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96354526C>T	ENST00000348459.5	+	19	2268	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Silent_p.R623R|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Silent_p.R767R	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	721	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTTATCGCCTTGTTACAG	0.358000													4	48					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074636	140074636	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140074636G>A	ENST00000323927.2	-	10	1891	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	629					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GAGGTACCTTGAGCTGCTCAT	0.632000													9	26					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000608	52000608	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52000608G>A	ENST00000291707.3	-	6	1552	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SIGLEC12_ENST00000598614.1_Silent_p.F381F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	499					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCACACAACGAAGATGATGC	0.572000													12	135					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1131671	1131671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:1131671G>A	ENST00000397092.1	+	3	1191	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.V103M|GPER_ENST00000297469.3_Missense_Mutation_p.V103M|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.V103M	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		103						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CAACCTGGCGGTGGCGGACCT	0.577000													16	91					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926373	61926373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61926373C>T	ENST00000280772.1	-	23	2781	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	ANK3_ENST00000373827.2_Missense_Mutation_p.E858K|ANK3_ENST00000460468.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.E847K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	864					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGATATATTCGCCATCACTG	0.303000													9	43					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24580302	24580302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24580302G>A	ENST00000319715.4	+	17	2723	c.2291G>A	c.(2290-2292)aGa>aAa	p.R764K	RBBP6_ENST00000348022.2_Missense_Mutation_p.R730K|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	764					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCCCCTTACAGACGCTATCAT	0.463000													4	38					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943108	12943108	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12943108T>C	ENST00000235349.5	-	2	178	c.108A>G	c.(106-108)gaA>gaG	p.E36E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	36										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGAAAAGTTCTGTGGGCA	0.627000													18	141					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42003946	42003946	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:42003946G>A	ENST00000395925.3	-	15	4809	c.4725C>T	c.(4723-4725)ttC>ttT	p.F1575F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1575					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAACTGCAAGGAATTTGCTTT	0.458000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				5	45					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141720809	141720809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141720809C>T	ENST00000475668.2	+	5	538	c.484C>T	c.(484-486)Cca>Tca	p.P162S	MGAM_ENST00000549489.2_Missense_Mutation_p.P162S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	162					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTTCTTCACCAGTGTTTGG	0.333000													3	41					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180907	142180907	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142180907C>T	ENST00000390368.2	-	0	109																											CCCACCTGCCCACAGGAGAGA	0.582000													4	65					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644563	70644563	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:70644563C>T	ENST00000298596.6	+	3	1094	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	STOX1_ENST00000421961.2_Silent_p.F227F|STOX1_ENST00000399169.4_Silent_p.F337F|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	337						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTGCTCAGTTCCCACCTGAAG	0.423000													10	71					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080513	55080513	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55080513C>T	ENST00000302250.2	-	4	595	c.435G>A	c.(433-435)aaG>aaA	p.K145K	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.K145K	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	145						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTTGATGTTCTTGAAGTCCA	0.562000													5	44					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45888202	45888202	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:45888202C>T	ENST00000007414.3	-	17	1929		c.e17-1		OSBPL7_ENST00000392507.3_Splice_Site	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7						lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGGGAGACCTTGGTGAGCA	0.587000													3	34					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6085342	6085342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6085342C>T	ENST00000261405.5	-	43	7626	c.7372G>A	c.(7372-7374)Gat>Aat	p.D2458N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2458	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACGGCATCCTCCATGTCG	0.627000													11	108					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034521	94034521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:94034521G>A	ENST00000297268.6	+	10	914	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	148					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCACCCTGGAAAACCCGGA	0.423000										HNSCC(75;0.22)			10	38					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465363	58465363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:58465363G>A	ENST00000219919.4	+	3	705	c.335G>A	c.(334-336)gGa>gAa	p.G112E	AQP9_ENST00000536493.1_Missense_Mutation_p.G112E|AQP9_ENST00000558772.1_Missense_Mutation_p.G47E|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	112					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGTTCTTGGGAGCCTTTGTG	0.473000													7	137					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15905399	15905399	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:15905399C>T	ENST00000375826.3	-	4	817	c.675G>A	c.(673-675)cgG>cgA	p.R225R	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	225					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAGCCCCGGATGCCAA	0.602000													7	89					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12546886	12546886	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:12546886T>C	ENST00000409402.4	-	3	657	c.390A>G	c.(388-390)ggA>ggG	p.G130G	SPIRE1_ENST00000410092.3_Silent_p.G130G|SPIRE1_ENST00000309836.5_Intron|SPIRE1_ENST00000453447.2_Silent_p.G10G|SPIRE1_ENST00000383356.2_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	130	KIND.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AAATAATAATTCCCAAAGATT	0.383000													2	14					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517261	65517261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:65517261G>A	ENST00000310193.3	-	5	1384	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	404					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAAGATTTCAGGGTCACCATG	0.473000													5	98					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844653	40844653	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40844653C>T	ENST00000264638.4	+	17	2884	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	889	Laminin G-like 3.				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)		AGGCCCGGCTCCGAGTGGATC	0.567000													10	111					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249509	7249509	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7249509C>T	ENST00000266542.4	-	6	1034	c.942G>A	c.(940-942)ctG>ctA	p.L314L	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	314	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGTGGTTCCCCAGTTTCAGCA	0.552000													7	131					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805531	20805531	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:20805531G>A	ENST00000577537.1	+	0	715				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA																							TGCCACCCAGGAAGTCTAATG	0.493000													6	207					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27332849	27332849	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:27332849C>T	ENST00000289166.5	-	2	1029	c.864G>A	c.(862-864)cgG>cgA	p.R288R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	288										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGGAAGCCCCGCACCAGGA	0.687000													8	30					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471452	58471452	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:58471452G>A	ENST00000219919.4	+	5	991	c.621G>A	c.(619-621)ctG>ctA	p.L207L	AQP9_ENST00000536493.1_Silent_p.L207L|AQP9_ENST00000558772.1_Silent_p.L142L|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	207					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CTTCCTCCCTGGGACTGAACA	0.532000													5	27					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32931962	32931962	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:32931962G>A	ENST00000383763.4	+	4	1329	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	422					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAGGTCCTGGAGGAGGGTA	0.617000													5	55					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33026322	33026322	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:33026322G>C	ENST00000374864.4	+	8	778	c.565G>C	c.(565-567)Ggt>Cgt	p.G189R	ITCH_ENST00000535650.1_Missense_Mutation_p.G79R|ITCH_ENST00000262650.6_Missense_Mutation_p.G230R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	230					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGCAGGAGCTGGTGAAAATAG	0.468000													3	60					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137139	40137139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:40137139C>T	ENST00000278198.2	-	2	2667	c.704G>A	c.(703-705)aGg>aAg	p.R235K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R235K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R235K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R235K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	235					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGAGCCAGGCCTGATGGCAGA	0.458000													6	66					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118533403	118533403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:118533403C>T	ENST00000359236.5	-	2	572	c.296G>A	c.(295-297)gGa>gAa	p.G99E	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	99	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGTGTAGATTCCCTCATCTCC	0.597000													10	142					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255195	24255195	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24255195G>A	ENST00000538205.1	+	8	937		c.e8-1		ADAMDEC1_ENST00000256412.4_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1						integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCTTTGTAAAGAAAGAAGACT	0.348000													4	53					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166896092	166896092	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166896092G>A	ENST00000423058.2	-	14	2447	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	SCN1A_ENST00000409050.1_Silent_p.I782I|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I799I|SCN1A_ENST00000303395.4_Silent_p.I810I|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	810						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGCTGTAAAGATCCCAGTGA	0.333000													6	30					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83330664	83330664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:83330664G>A	ENST00000261722.3	-	24	3079	c.2872C>T	c.(2872-2874)Cga>Tga	p.R958*	AP3B2_ENST00000535348.1_Nonsense_Mutation_p.R926*|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.R977*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	958					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGAACTGTCGGGTCTGGGTG	0.552000													3	44					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752357	17752357	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17752357G>A	ENST00000428389.2	-	22	2744	c.2745C>T	c.(2743-2745)ttC>ttT	p.F915F	UNC13A_ENST00000551649.1_Silent_p.F827F|UNC13A_ENST00000552293.1_Silent_p.F827F|UNC13A_ENST00000519716.2_Silent_p.F827F|UNC13A_ENST00000252773.7_Silent_p.F827F|UNC13A_ENST00000550896.1_Silent_p.F825F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	827					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCACGAAGTGGAACAGGTTCT	0.572000													4	76					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14497966	14497966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:14497966C>T	ENST00000344204.4	+	51	8054	c.8030C>T	c.(8029-8031)cCc>cTc	p.P2677L	TRIO_ENST00000344135.5_Missense_Mutation_p.P176L|TRIO_ENST00000537187.1_Missense_Mutation_p.P2501L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2677					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTCTCAATCCCAACTACATT	0.403000													19	327					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457393	21457393	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:21457393A>G	ENST00000307378.6	-	7	1277	c.557T>C	c.(556-558)tTt>tCt	p.F186S	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F186S|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F184S|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.F54S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.F54S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	186					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAATTTGGCAAAATCTTCTAT	0.353000													3	52					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6307229	6307229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6307229C>T	ENST00000301452.4	-	5	638	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	187						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGTCACTGATCCAGCTGGTCA	0.562000													8	93					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608652	108608652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:108608652G>A	ENST00000264047.2	+	3	545	c.269G>A	c.(268-270)gGa>gAa	p.G90E	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G90E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	90					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCACCAATTGGATATTCTCTT	0.418000													6	54					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860664	16860664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16860664C>T	ENST00000524140.2	+	6	1629	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	NWD1_ENST00000523826.1_Missense_Mutation_p.A198V|NWD1_ENST00000552788.1_Missense_Mutation_p.A404V|NWD1_ENST00000549814.1_Missense_Mutation_p.A404V|NWD1_ENST00000339803.6_Missense_Mutation_p.A269V|NWD1_ENST00000379808.3_Missense_Mutation_p.A404V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	404	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGCCCCCTGCCCAGGTTCTG	0.602000													8	97					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411211	5411211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5411211G>A	ENST00000328611.3	+	1	605	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	195						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCACCAGGAAGTGATACA	0.517000													13	117					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248730	20248730	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20248730A>T	ENST00000315957.4	+	1	330	c.249A>T	c.(247-249)atA>atT	p.I83I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATGCTCATAGACTTCTTTG	0.448000													23	211					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168326	139168326	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139168326G>A	ENST00000340940.4	-	1	132	c.63C>T	c.(61-63)ccC>ccT	p.P21P	KLRG2_ENST00000393039.2_Silent_p.P21P	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	21	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTCCCACGGGCTCCATTG	0.726000													4	27					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23870066	23870066	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23870066A>G	ENST00000405093.3	-	13	1332	c.1262T>C	c.(1261-1263)gTg>gCg	p.V421A	MYH6_ENST00000356287.3_Missense_Mutation_p.V421A	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	421	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGTAGTACACCTGCTGCAC	0.597000													11	159					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129460	149129460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149129460G>A	ENST00000247930.4	-	6	2226	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACTTGTAGGGCTTAGGGCCA	0.662000													23	327					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139334	142139334	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142139334C>T	ENST00000390374.3	-	0	335																											TGCGCTGGATCGTCAGAGTGG	0.542000													34	161					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868853	201868853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:201868853C>T	ENST00000367288.4	-	2	1534	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	430					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCTTGCCTCCACAGATGTGT	0.582000													3	55					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420634	105420634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105420634C>T	ENST00000333244.5	-	7	1273	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	385						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCACTTCTCGATCCTGTTC	0.632000													22	160					0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32687585	32687585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:32687585C>T	ENST00000225842.3	-	3	353	c.284G>A	c.(283-285)aGa>aAa	p.R95K		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	95					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		TGCTCATTTTCTTTTTGACGG	0.507000													5	70					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153943785	153943785	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:153943785C>T	ENST00000356448.4	+	11	2360	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	ARHGEF26_ENST00000465093.1_Silent_p.I692I|ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	692	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TGCTCATTATCACCAAGAAGA	0.393000													3	30					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33068912	33068912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:33068912C>T	ENST00000374864.4	+	20	2207	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	ITCH_ENST00000535650.1_Missense_Mutation_p.S555F|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.S706F	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	706	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATGTACTTCTCCGTTGACAAA	0.318000													12	94					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120382599	120382599	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:120382599C>T	ENST00000331113.4	+	4	2375	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	470					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTAGCAAATCCGGCTCCAGCT	0.478000													9	123					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107419	21107419	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21107419G>A	ENST00000255882.6	-	24	2927	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	PI4KA_ENST00000572273.1_Silent_p.F889F	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	889					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCATGTTCAGGAAGGCATCGA	0.502000													5	48					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856628	62856628	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:62856628C>T	ENST00000584306.1	-	11	4166	c.3636G>A	c.(3634-3636)agG>agA	p.R1212R	LRRC37A3_ENST00000319651.5_Silent_p.R1212R|LRRC37A3_ENST00000334962.5_Silent_p.R189R|LRRC37A3_ENST00000339474.5_Silent_p.R330R|LRRC37A3_ENST00000400877.3_Silent_p.R250R	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1212						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTTCAGCTCCCTTGGGGCTG	0.562000													15	91					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910946	57910946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57910946C>T	ENST00000366197.5	+	3	1541	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443C	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAATTCTTTCGTTACAACTC	0.463000													5	66					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499824	1499824	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1499824C>T	ENST00000345913.4	+	12	2161	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S	TPO_ENST00000329066.4_Silent_p.S690S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Silent_p.S633S|TPO_ENST00000346956.3_Silent_p.S690S|TPO_ENST00000337415.3_Silent_p.S690S|TPO_ENST00000382198.1_Silent_p.S517S|TPO_ENST00000349624.3_Silent_p.S517S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	690					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S690S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAAGCACTCCCTGTCTCGGG	0.552000													6	44					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133572	104133572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:104133572C>T	ENST00000259407.2	-	2	223	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	BAAT_ENST00000395051.3_Missense_Mutation_p.E39K	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)	39					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)	TCTCCGTTTTCATCTTCCAGT	0.478000													5	58					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149520342	149520342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:149520342C>T	ENST00000258484.6	+	6	953	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	307					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TAATGGAAATCATCACAAAGT	0.358000													3	29					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78337001	78337001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:78337001C>T	ENST00000582970.1	+	40	11598	c.11455C>T	c.(11455-11457)Cag>Tag	p.Q3819*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q3868*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q1892*|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTTGCCTACCAGCGTTTCAG	0.557000													9	122					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210856645	210856645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:210856645C>T	ENST00000367007.4	-	11	3036	c.2867G>A	c.(2866-2868)aGa>aAa	p.R956K	KCNH1_ENST00000271751.4_Missense_Mutation_p.R983K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	983	CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAAAATGTCTCTCTCTGATTC	0.468000													7	154					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588716	72588716	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72588716G>A	ENST00000392620.1	+	3	893	c.531G>A	c.(529-531)aaG>aaA	p.K177K	C17orf77_ENST00000328023.2_Silent_p.K177K	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	177						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGACGGACAAGGCCAGCCATG	0.617000													4	23					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470392	10470392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10470392C>T	ENST00000382483.3	-	4	1439	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	406					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTCCAGATTTCATACTTGGGC	0.672000													5	92					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914626	23914626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:23914626G>A	ENST00000382298.3	-	10	3977	c.3389C>T	c.(3388-3390)aCc>aTc	p.T1130I	SACS_ENST00000402364.1_Missense_Mutation_p.T380I|SACS_ENST00000382292.3_Missense_Mutation_p.T1130I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1130					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGTAAGAGGGTTTTGGCTTT	0.393000													18	121					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37492087	37492087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37492087G>A	ENST00000381792.2	-	5	588	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P159S|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P150S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P150S|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P159S			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	159					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGGTGCTCGGGGATTTGGAGA	0.627000													11	81					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623070	61623070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61623070C>T	ENST00000583023.1	+	14	2803	c.2792C>T	c.(2791-2793)cCa>cTa	p.P931L	KCNH6_ENST00000314672.5_Missense_Mutation_p.P895L|KCNH6_ENST00000456941.2_Missense_Mutation_p.P842L|KCNH6_ENST00000581784.1_Missense_Mutation_p.P842L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	931					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACTCTGGCACCATCCTCAGAA	0.572000													15	135					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2833938	2833938	+	Silent	SNP	G	G	A	rs143196754	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2833938G>A	ENST00000380739.5	-	7	1246	c.1044C>T	c.(1042-1044)ccC>ccT	p.P348P	SERPINB1_ENST00000537185.1_Silent_p.P197P			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	348					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		AATTTTCTTCGGGCATCAACA	0.448000													3	37					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113322065	113322065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113322065C>T	ENST00000263331.5	+	10	2315	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	POLR1B_ENST00000541869.1_Missense_Mutation_p.R617C|POLR1B_ENST00000417433.2_Missense_Mutation_p.R523C|POLR1B_ENST00000537335.1_Missense_Mutation_p.R368C|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	579					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGATTCTCTTCGTCATTTTAA	0.507000													18	142					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929122	31929122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31929122C>T	ENST00000375394.2	+	8	861	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Missense_Mutation_p.P57S	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	250						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGCAGTGCTCCCCTGGCCCG	0.597000													19	136					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101580569	101580569	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:101580569C>T	ENST00000335681.5	+	8	933	c.648C>T	c.(646-648)tgC>tgT	p.C216C	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Silent_p.C281C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	216					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGACCTTGCCGGGTGCCAC	0.527000													7	79					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155252751	155252751	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:155252751G>A	ENST00000357232.3	-	10	2348	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	783	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctaattcacagaaCAGAGACT	0.473000													3	22					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134455	58134455	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:58134455C>T	ENST00000357272.4	+	36	6132	c.5967C>T	c.(5965-5967)ccC>ccT	p.P1989P	FLNB_ENST00000348383.5_Silent_p.P1989P|FLNB_ENST00000419752.2_Silent_p.P1809P|FLNB_ENST00000429972.2_Silent_p.P1978P|FLNB_ENST00000490882.1_Silent_p.P2020P|FLNB_ENST00000493452.1_Silent_p.P1796P|FLNB_ENST00000358537.3_Silent_p.P1965P|FLNB_ENST00000295956.4_Silent_p.P1989P			O75369	FLNB_HUMAN	filamin B, beta	1989	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAACAGCCCCGTGTCTATCA	0.572000													4	77					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127318180	127318180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127318180C>T	ENST00000265056.7	+	2	270	c.26C>T	c.(25-27)aCc>aTc	p.T9I		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	9	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAATCCTTCACCATGGCATCC	0.587000													38	389					0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554981	136554981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:136554981C>T	ENST00000355849.5	+	3	702	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	98	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AATGTCCATCCTTGGGAAAGG	0.368000													4	63					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055757	40055757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40055757C>T	ENST00000336649.4	+	17	2522	c.2522C>T	c.(2521-2523)tCt>tTt	p.S841F	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S800F|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S835F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S800F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S800F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S835F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	835					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCTCCACTTCTCCCTGGGCC	0.597000													12	201					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196455	24196455	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24196455G>A	ENST00000303531.7	+	14	1709	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	PRKCB_ENST00000321728.7_Silent_p.G519G	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	519	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)	AGCCCTATGGGAAGTCCGTGG	0.438000													4	113					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263294	34263294	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:34263294G>T	ENST00000262622.3	+	4	1359	c.601G>T	c.(601-603)Ggc>Tgc	p.G201C	CHST8_ENST00000434302.1_Missense_Mutation_p.G201C|CHST8_ENST00000438847.2_Missense_Mutation_p.G201C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	201					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCCAAGGCCGGCTGCTCCAA	0.687000													5	65					5.9392e-07	5.9964e-07	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23235553	23235553	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23235553C>T	ENST00000400191.3	+	13	2409	c.2391C>T	c.(2389-2391)gcC>gcT	p.A797A	EPHB2_ENST00000374632.3_Silent_p.A798A|EPHB2_ENST00000374627.1_Silent_p.A792A|EPHB2_ENST00000374630.3_Silent_p.A797A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	797	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCCGGAAGCCATCCAGTACC	0.592000													16	103					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141758086C>T	ENST00000475668.2	+	31	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	MGAM_ENST00000549489.2_Silent_p.I1259I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1259	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTGAGATCGCCAGCTTGT	0.498000													18	263					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35944284	35944284	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:35944284G>T	ENST00000297866.5	+	2	466	c.401_splice	c.e2+1	p.G134_splice		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	134										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCCTCTAATTGGGTATGTAAT	0.313000													4	18					2.7689e-08	2.79826e-08	1	1	0
HTR3E	285242	broad.mit.edu	37	3	183823664	183823664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:183823664C>T	ENST00000415389.2	+	7	1298	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	HTR3E_ENST00000440596.2_Missense_Mutation_p.R304C|HTR3E_ENST00000436361.2_Missense_Mutation_p.R278C|HTR3E_ENST00000335304.2_Missense_Mutation_p.R293C|HTR3E_ENST00000425359.2_Missense_Mutation_p.R263C	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	278						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGTGGGAATCGTGTCCCATT	0.557000													20	166					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966937	39966937	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39966937C>T	ENST00000336649.4	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CACNA1I_ENST00000400164.3_Silent_p.F60F|CACNA1I_ENST00000402142.3_Silent_p.F60F|CACNA1I_ENST00000404898.1_Silent_p.F60F|CACNA1I_ENST00000407673.1_Silent_p.F60F|CACNA1I_ENST00000401624.1_Silent_p.F60F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	60					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTGCCTTCTTCTGCCTGCGAC	0.657000													42	226					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70148320	70148320	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:70148320C>T	ENST00000335568.5	+	2	812	c.810C>T	c.(808-810)ttC>ttT	p.F270F	UGT2B28_ENST00000511240.1_Silent_p.F270F	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	270					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTCATCCATTCTTACCAAACA	0.413000													8	135					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953700	56953700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56953700G>A	ENST00000504904.3	-	7	1383	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	ZNF667_ENST00000292069.6_Missense_Mutation_p.H222Y|ZNF667_ENST00000342634.3_Missense_Mutation_p.H350Y|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCCATCATGAATTCTCATA	0.378000													9	73					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582780	120582780	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:120582780A>G	ENST00000300648.6	-	40	5114	c.5102T>C	c.(5101-5103)aTg>aCg	p.M1701T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1701					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTGTCTCCATCAGCCACGG	0.607000													6	77					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382474	22382474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22382474G>A	ENST00000263160.3	+	5	1042	c.605G>A	c.(604-606)tGg>tAg	p.W202*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	202					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CATGGGATATGGAGCAAATGG	0.478000													5	63					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33999493	33999493	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:33999493G>A	ENST00000373381.4	-	63	10070	c.9894C>T	c.(9892-9894)gtC>gtT	p.V3298V		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3154						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACGGAAGAGGACTGTGCTTC	0.567000													7	43					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847631	46847631	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:46847631C>T	ENST00000283296.7	-	9	1248	c.960G>A	c.(958-960)tcG>tcA	p.S320S	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Silent_p.S320S|GPR116_ENST00000362015.4_Silent_p.S320S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	320	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CGGTGTAAATCGAGAATCTGC	0.463000													9	98					0	0	1	0	0
MRPS33	51650	broad.mit.edu	37	7	140710238	140710238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140710238G>A	ENST00000393008.3	-	2	351	c.196C>T	c.(196-198)Cga>Tga	p.R66*	MRPS33_ENST00000496958.1_Nonsense_Mutation_p.R66*|MRPS33_ENST00000467334.1_Nonsense_Mutation_p.R56*|MRPS33_ENST00000469351.1_Nonsense_Mutation_p.R66*|MRPS33_ENST00000324787.5_Nonsense_Mutation_p.R66*	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	66					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					CCAAGAAATCGGAGCGTCTGC	0.418000													9	94					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053062	15053062	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15053062C>T	ENST00000248072.3	+	1	762	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ATGGCACTGGCCTTGGGGTCT	0.537000													11	138					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183606036	183606036	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:183606036C>G	ENST00000264065.6	+	13	1559	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	382					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCAAATGATCCTGAGCTGAA	0.308000													4	26					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789091	26789091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:26789091G>A	ENST00000381588.4	-	5	1680	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RNF6_ENST00000381570.3_Nonsense_Mutation_p.R310*|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.R310*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	310	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAACGGCTTCGACTATTGGAA	0.413000													22	184					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475307	140475307	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140475307C>T	ENST00000194155.4	+	1	1081	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		311	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTGGATTTCGAATCCATCC	0.403000													8	105					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702255	81702255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:81702255G>A	ENST00000372292.3	-	4	362	c.322C>T	c.(322-324)Cca>Tca	p.P108S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	108	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGAGGTCCTGGAGGTCCTGAG	0.572000													6	55					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155162036	155162036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155162036C>T	ENST00000368395.1	-	2	168	c.97G>A	c.(97-99)Gga>Aga	p.G33R	MUC1_ENST00000457295.2_Missense_Mutation_p.G42R|MUC1_ENST00000438413.1_Missense_Mutation_p.G33R|MUC1_ENST00000368389.2_Missense_Mutation_p.G33R|MUC1_ENST00000368390.3_Missense_Mutation_p.G33R|MUC1_ENST00000342482.4_Missense_Mutation_p.G42R|MUC1_ENST00000368392.3_Missense_Mutation_p.G42R|MUC1_ENST00000368396.4_Missense_Mutation_p.G42R|MUC1_ENST00000368393.3_Missense_Mutation_p.G33R|MUC1_ENST00000368398.3_Missense_Mutation_p.G33R|MUC1_ENST00000343256.5_Missense_Mutation_p.G33R|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000338684.5_Missense_Mutation_p.G42R|MUC1_ENST00000337604.5_Missense_Mutation_p.G33R	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	815						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCTTTTCTCCACCTGGGGTA	0.517000			T	IGH@	B-NHL								14	123					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483364	102483364	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:102483364T>C	ENST00000369138.1	+	14	2724	c.2234T>C	c.(2233-2235)gTt>gCt	p.V745A	GRIK2_ENST00000369134.4_Missense_Mutation_p.V696A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V669A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V745A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V745A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V745A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	745					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATCGAGTTTGTTACCCAGCGG	0.468000													17	203					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71006540	71006540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:71006540G>A	ENST00000396396.1	+	5	1017	c.788G>A	c.(787-789)gGa>gAa	p.G263E	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.G263E	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	263					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAAGACTTTGGAGGGCAGCAC	0.473000													7	48					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276755	152276755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276755C>T	ENST00000368799.1	-	3	10642	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3536	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACACTGGATCCCTGGTTCCT	0.577000									Ichthyosis				20	240					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777087	164777087	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164777087C>T	ENST00000264382.3	-	11	1209	c.1146_splice	c.e11-1	p.D383_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	383	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTGTGTATCCTGAAAGTTA	0.348000										HNSCC(35;0.089)			3	40					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946168	138946168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138946168C>T	ENST00000288561.8	+	6	1076	c.827C>T	c.(826-828)cCa>cTa	p.P276L	UBN2_ENST00000473989.2_Missense_Mutation_p.P359L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	359	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATAAACCCCCATGTGCTGCT	0.473000													5	86					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37296034	37296034	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:37296034A>G	ENST00000233099.5	-	8	1062	c.967T>C	c.(967-969)Ttg>Ctg	p.L323L	HEATR5B_ENST00000354531.2_Silent_p.L323L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	323							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTGCGCTCCAACCACTGACCA	0.463000													3	32					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616461	79616461	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:79616461G>C	ENST00000296739.4	+	1	672	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGGAGATGATATT	0.358000													4	98					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13841810G>A	ENST00000265104.4	-	33	5579	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358000									Kartagener syndrome				3	49					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112896	59112896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:59112896C>T	ENST00000395153.3	+	4	1591	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	DACT1_ENST00000541264.2_Missense_Mutation_p.P238S|DACT1_ENST00000335867.4_Missense_Mutation_p.P519S|DACT1_ENST00000395151.3_Missense_Mutation_p.P238S|DACT1_ENST00000556859.1_Missense_Mutation_p.P238S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	519					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCAGGGCGTCCCCCCGGCCAC	0.587000													10	135					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95234462	95234462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:95234462C>T	ENST00000237853.4	-	8	1356	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	336					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GTGAGATATTCGGGCTTTTTT	0.448000													13	208					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103629	53103629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:53103629C>T	ENST00000408890.4	+	1	281	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	89										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCGCCAAGCCGCAGCGGGT	0.692000													4	27					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817416	4817416	+	Missense_Mutation	SNP	G	G	A	rs139641703		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:4817416G>A	ENST00000248244.5	-	2	1203	c.974C>T	c.(973-975)cCc>cTc	p.P325L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	325	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GACAGAGCAGGGGTTTTTGAC	0.572000													8	53					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658452	3658452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3658452G>A	ENST00000294008.3	-	2	1154	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	172	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTCTGGAAAGGTTTGGCGAT	0.507000								Direct reversal of damage					11	146					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59623392	59623392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59623392C>T	ENST00000257264.3	-	6	991	c.887G>A	c.(886-888)gGa>gAa	p.G296E	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	296					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGGTCTTTCCCATCAGGGC	0.453000													7	60					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567101	45567101	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:45567101G>A	ENST00000588982.1	-	3	879	c.378C>T	c.(376-378)atC>atT	p.I126I	ZBTB7C_ENST00000586438.1_Silent_p.I126I|ZBTB7C_ENST00000332053.2_Silent_p.I126I|ZBTB7C_ENST00000590800.1_Silent_p.I126I|ZBTB7C_ENST00000535628.2_Silent_p.I126I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	126	Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGGCTCCATGATCTCCAGGC	0.587000													5	32					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769333	15769333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15769333C>T	ENST00000221307.7	+	11	1330	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y	CYP4F3_ENST00000585846.1_Missense_Mutation_p.H428Y|CYP4F3_ENST00000586182.1_Missense_Mutation_p.H428Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.H428Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	428					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTTGGAACCCATCACAACCC	0.597000													31	347					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73188340	73188340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:73188340G>A	ENST00000272433.2	-	13	995	c.865C>T	c.(865-867)Cct>Tct	p.P289S	SFXN5_ENST00000410065.1_Silent_p.S221S|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	289					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTTTGCACAGGGAGGAGCAGC	0.682000													5	37					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60294498	60294498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:60294498G>A	ENST00000371208.3	+	3	453	c.196G>A	c.(196-198)Gat>Aat	p.D66N	HOOK1_ENST00000395561.2_Missense_Mutation_p.D24N|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	66	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATTAAAGAGGATGTTGGGGA	0.353000													10	67					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694845	143694845	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:143694845T>A	ENST00000356613.2	-	1	1988	c.788A>T	c.(787-789)aAc>aTc	p.N263I		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	263					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CTCCACCCAGTTCTTCACGGA	0.622000													9	69					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408569	98408569	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98408569C>T	ENST00000339364.5	-	7	1151	c.1032G>A	c.(1030-1032)gcG>gcA	p.A344A	PIK3AP1_ENST00000371110.2_Silent_p.A166A|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	344						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCCATACTTCGCAGCAAAAT	0.512000													4	53					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714067	6714067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6714067C>T	ENST00000245907.6	-	7	801	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	237					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTGTAGGCTCCACTATGACC	0.632000													13	118					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566516	4566516	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4566516C>T	ENST00000360213.1	+	1	96	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCATCCCCTTTGGCTCCA	0.542000													7	56					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106763	55106763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55106763C>T	ENST00000453777.1	+	5	727	c.557C>T	c.(556-558)cCc>cTc	p.P186L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P186L|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	186	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCTGTGGGCCCCGTGAGCCCG	0.572000													14	175					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671208	22671208	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22671208C>T	ENST00000390460.1	+	0	273																											GTACCTTGATCCTGCACCGTG	0.522000													5	23					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:33629411C>T	ENST00000380099.3	+	3	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_ENST00000426690.2_Missense_Mutation_p.P213S|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000													6	72					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219886646	219886646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219886646C>T	ENST00000341552.5	-	18	3069	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E996K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E996K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	996						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCCTTTTCCTTTGCCTGG	0.592000													14	146					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718559	42718559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:42718559G>A	ENST00000230882.4	+	10	1140	c.950G>A	c.(949-951)gGa>gAa	p.G317E	GHR_ENST00000537449.1_Missense_Mutation_p.G130E|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.G295E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	317					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCTAGGAAGGAAAATTAGAG	0.299000													8	129					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768888	57768888	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57768888C>T	ENST00000371030.2	+	1	2814	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	938						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGCCTTTTCCCCCAAGTACC	0.632000													10	161					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841757	70841757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70841757G>A	ENST00000393567.2	-	86	15242	c.15092C>T	c.(15091-15093)tCg>tTg	p.S5031L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5031										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTCGGATCGAGAAGGGACC	0.532000													5	95					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36541577	36541577	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36541577G>A	ENST00000397293.2	-	3	428	c.81C>T	c.(79-81)atC>atT	p.I27I	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000349314.2_Silent_p.I98I|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000487423.1_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	98					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TAGTCAGCAGGATTTGCAGAT	0.512000													18	75					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038273	34038273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34038273G>A	ENST00000373381.4	-	50	7771	c.7595C>T	c.(7594-7596)cCt>cTt	p.P2532L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2534	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGGGCCTCAGGAAGCCCACA	0.488000													5	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13830773C>T	ENST00000265104.4	-	36	6098	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome				5	67					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595250	8595250	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8595250C>T	ENST00000338257.8	-	21	2426		c.e21-1			NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF							unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATGTTGGAAGCTGCGGGGACA	0.642000													13	236					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087125	49087125	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:49087125G>A	ENST00000261900.3	-	9	2094	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	624	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCTGTGAAAAGGAAAGGCCAC	0.488000													3	54					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138189866	138189866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:138189866C>T	ENST00000389567.4	+	17	1924	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTGGTGCTTCGGGTAAATCT	0.597000													7	85					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904115	56904115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:56904115G>A	ENST00000438926.2	+	5	738	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	SLC12A3_ENST00000262502.5_Missense_Mutation_p.G236S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G236S|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G237S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	237					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCACACGGTGGGCTTTGCAGA	0.657000													4	55					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629120	48629120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:48629120G>A	ENST00000328333.8	-	11	1600	c.1493C>T	c.(1492-1494)aCc>aTc	p.T498I	COL7A1_ENST00000454817.1_Missense_Mutation_p.T498I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	498	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAACCACGGTTGCAGGGGT	0.652000													12	72					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110574141	110574141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:110574141C>T	ENST00000356915.2	-	5	999	c.937G>A	c.(937-939)Gac>Aac	p.D313N	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Intron|DCX_ENST00000338081.3_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356220.3_Missense_Mutation_p.D313N	NM_001195553.1|NM_178152.2|NM_178153.2	NP_001182482.1|NP_835365.1|NP_835366.1	O43602	DCX_HUMAN	doublecortin	391	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCGTCTTGGTCGTTACCTGAG	0.522000													15	84					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990276	990276	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:990276C>T	ENST00000190165.2	+	2	728	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	230					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGAATCACCTCCTGATTGAGG	0.567000													9	87					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	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.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567000													4	53					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113209547	113209547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:113209547C>T	ENST00000393020.1	+	9	1033	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.Q210*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.Q210*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.Q216*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	210							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCTGCAAACCCAGGTGAAAGG	0.483000													5	93					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186947657	186947657	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:186947657C>T	ENST00000337774.5	-	11	1721	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	444					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGCCATCAGCTTCCGGGAGA	0.607000													4	69					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999909	108999909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:108999909G>A	ENST00000272452.2	+	5	884	c.558G>A	c.(556-558)tgG>tgA	p.W186*	SULT1C4_ENST00000409309.3_Nonsense_Mutation_p.W111*	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGAAAGGATGGTGGGAAGCCA	0.473000													5	73					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149172508	149172508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149172508G>A	ENST00000340622.3	-	7	1182	c.902C>T	c.(901-903)cCt>cTt	p.P301L	ZNF746_ENST00000458143.2_Missense_Mutation_p.P302L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	301					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TAGGTCAGTAGGATGTACGGG	0.532000													5	88					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1341167	1341167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1341167G>A	ENST00000482352.1	-	3	370	c.298C>T	c.(298-300)Cca>Tca	p.P100S	MRPL20_ENST00000344843.7_Intron|MRPL20_ENST00000493287.1_Intron			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	0							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AATTTCAGTGGGACCCACATA	0.512000													31	152					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873383	26873383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26873383C>T	ENST00000374168.2	+	3	288	c.134C>T	c.(133-135)tCc>tTc	p.S45F	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S54F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S29F|RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S45F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	45					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGGAGATCTCCATCACGCAC	0.592000													7	41					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256856	69256856	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69256856G>A	ENST00000439696.2	-	2	712	c.411C>T	c.(409-411)ttC>ttT	p.F137F	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.F137F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	137					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCCGTGTGCGAACTGGCACT	0.647000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	217					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807924	8807924	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8807924C>T	ENST00000324436.3	-	1	1248	c.1128G>A	c.(1126-1128)agG>agA	p.R376R		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	376						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGAGAAATTCCTGGTGGGCT	0.667000													3	40					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329472	69329472	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:69329472C>T	ENST00000260364.5	+	9	1540	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	NOX5_ENST00000530406.2_Silent_p.F403F|NOX5_ENST00000448182.3_Silent_p.F385F|NOX5_ENST00000455873.3_Silent_p.F396F|NOX5_ENST00000388866.3_Silent_p.F431F			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	431	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCTTGTTTTTCCTGGAGAAGG	0.562000													13	99					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831331	89831331	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:89831331G>A	ENST00000389301.3	-	28	2775	c.2745C>T	c.(2743-2745)acC>acT	p.T915T	FANCA_ENST00000568369.1_Silent_p.T915T	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	915					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTCGGAAGGTTCTGTGTG	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	86					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185404970	185404970	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:185404970G>A	ENST00000382199.2	-	7	782	c.687C>T	c.(685-687)atC>atT	p.I229I	IGF2BP2_ENST00000421047.2_Silent_p.I172I|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.I235I|IGF2BP2_ENST00000346192.3_Silent_p.I229I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	229	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CTTTTCTATGGATATCTACCC	0.493000													5	58					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644815	169644815	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169644815C>T	ENST00000428432.2	+	6	1154	c.765C>T	c.(763-765)ctC>ctT	p.L255L	SAMD7_ENST00000335556.3_Silent_p.L255L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	255										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGGAGAGCTCGAGCCCACCC	0.517000													6	83					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650488	90650488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:90650488G>A	ENST00000282146.4	+	2	809	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAGTAGGAGGAAAAATCTTT	0.483000													6	124					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886525	52886525	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52886525G>A	ENST00000330722.6	-	1	516	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	150	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGATTTGCAGGTTGAGGGGA	0.602000													15	167					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530721	38530721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38530721C>T	ENST00000263409.4	-	2	191	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R10Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	10					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCAGGATGGTCGTTTCAAACA	0.388000			T	PLAG1	salivary adenoma								9	98					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57423538	57423538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:57423538G>A	ENST00000442789.2	-	26	2997	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R904C|MYO1A_ENST00000544473.1_Missense_Mutation_p.R742C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	904					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCATTGCCACGATTGACCTTC	0.597000													12	213					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044219	53044219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53044219C>T	ENST00000309680.3	-	2	725	c.704G>A	c.(703-705)aGc>aAc	p.S235N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	235	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCTCTTGAGGCTGTCGATATA	0.473000													17	231					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570518	61570518	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61570518C>T	ENST00000457692.1	+	9	1560	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_ENST00000299502.4_Silent_p.F409F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	409					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388000													4	48					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566297	102566297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:102566297C>T	ENST00000370296.2	+	7	1346	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	PAX2_ENST00000428433.1_Missense_Mutation_p.R266W|PAX2_ENST00000355243.3_Missense_Mutation_p.R243W|PAX2_ENST00000361791.3_Missense_Mutation_p.R243W|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000556085.1_Missense_Mutation_p.R242W			Q02962	PAX2_HUMAN	paired box 2	266					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCTTTGGATCGGGTCTTTGA	0.542000													27	385					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282371	23282371	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23282371C>T	ENST00000397532.3	-	2	762	c.237G>A	c.(235-237)ggG>ggA	p.G79G	SLC7A7_ENST00000285850.7_Silent_p.G79G|SLC7A7_ENST00000397528.4_Silent_p.G79G|SLC7A7_ENST00000555702.1_Silent_p.G79G|SLC7A7_ENST00000397529.2_Silent_p.G79G|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	79					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAAGAGGCCCCCGACAGCCC	0.552000													12	120					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:86468433G>A	ENST00000361669.2	+	4	2702	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E407K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.E127K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	535					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCCCCTGTGAACCCTACGA	0.532000													10	152					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43277234	43277234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:43277234C>T	ENST00000512796.1	+	3	1867	c.368C>T	c.(367-369)tCc>tTc	p.S123F	NIM1_ENST00000326035.2_Missense_Mutation_p.S123F			Q8IY84	NIM1_HUMAN		123	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CGAGAAATCTCCAGCATGGAA	0.483000													3	59					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152847286C>T	ENST00000367255.5	-	5	755	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	52	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)			5	68					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440154	40440154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:40440154G>A	ENST00000319592.4	-	4	1466	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	RBM47_ENST00000295971.7_Missense_Mutation_p.L253F|RBM47_ENST00000381793.2_Missense_Mutation_p.L253F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L253F|RBM47_ENST00000514014.1_Missense_Mutation_p.L215F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	253	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCGATCATGAGGTTGCGCACG	0.612000													8	156					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45726195	45726195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:45726195C>T	ENST00000297323.7	+	14	2399	c.2377C>T	c.(2377-2379)Ctc>Ttc	p.L793F		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	793					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGCCATCCTGCTCTTCTCCTG	0.627000													12	73					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588338	31588338	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31588338G>A	ENST00000379416.3	-	23	2577	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	843					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATCTGGCCAGGAAGGGATGTC	0.582000													10	174					0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512920	125512920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125512920C>T	ENST00000373684.1	+	1	902	c.902C>T	c.(901-903)tCc>tTc	p.S301F	OR1L6_ENST00000304720.2_Missense_Mutation_p.S265F			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						AGGCCCCTGTCCATGTACTCA	0.498000													9	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604787	179604787	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179604787C>T	ENST00000589042.1	-	48	13397	c.13173G>A	c.(13171-13173)caG>caA	p.Q4391Q	TTN_ENST00000591111.1_Silent_p.Q4074Q|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Q4028Q|TTN_ENST00000342175.6_Silent_p.Q4220Q|TTN_ENST00000359218.5_Silent_p.Q4153Q|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4074	Ig-like 24.						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)			GGTTTAATCTCTGCTCTTCTG	0.468000													5	21					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601485	48601485	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:48601485T>C	ENST00000354276.3	-	6	806	c.479A>G	c.(478-480)aAg>aGg	p.K160R	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.K160R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.K170R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.K160R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	160	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCCACGGGCTTCTTCATATT	0.537000													17	67					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185536	8185536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185536G>A	ENST00000520004.1	-	5	3020	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	SGK223_ENST00000330777.4_Missense_Mutation_p.S919F			Q86YV5	SG223_HUMAN		919							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTCAGCTGGGAGGATGAGGC	0.677000													4	50					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471002	94471002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:94471002C>T	ENST00000370225.3	-	44	6228	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2048	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448000													11	146					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264597	37264597	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:37264597C>T	ENST00000310758.4	-	9	1235	c.588G>A	c.(586-588)tcG>tcA	p.S196S	ELMO1_ENST00000442504.1_Silent_p.S196S|ELMO1_ENST00000448602.1_Silent_p.S196S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	196					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S196S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTGCAGGATCGAGATGTCTA	0.502000													3	37					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211513246	211513246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211513246G>A	ENST00000233072.5	+	27	3582	c.3386G>A	c.(3385-3387)aGg>aAg	p.R1129K	CPS1_ENST00000430249.2_Missense_Mutation_p.R1135K|CPS1_ENST00000451903.2_Missense_Mutation_p.R678K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1129	ATP-grasp 2.				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)		TGCTTGTTGAGGCCTTCCTAT	0.338000													7	121					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86912889	86912889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:86912889G>A	ENST00000376238.4	-	7	764	c.715C>T	c.(715-717)Ctt>Ttt	p.L239F	SLC28A3_ENST00000537648.1_Missense_Mutation_p.L170F	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	239					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGCCCAAGAAGAAACTGT	0.413000													9	103					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71127806	71127806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71127806C>T	ENST00000393567.2	-	11	1510	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	HYDIN_ENST00000393550.2_Missense_Mutation_p.G454R|HYDIN_ENST00000288168.10_Missense_Mutation_p.G471R|HYDIN_ENST00000448089.2_Missense_Mutation_p.G454R|HYDIN_ENST00000321489.5_Missense_Mutation_p.G454R|HYDIN_ENST00000538248.1_Missense_Mutation_p.G481R|HYDIN_ENST00000541601.1_Missense_Mutation_p.G471R|HYDIN_ENST00000448691.1_Missense_Mutation_p.G454R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	454										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGCCTTCCCCTTTGATTCGG	0.428000													8	48					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65824770	65824770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:65824770C>T	ENST00000528302.1	+	6	704	c.650C>T	c.(649-651)cCt>cTt	p.P217L	SF3B2_ENST00000322535.6_Missense_Mutation_p.P234L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	234					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCCCCACTCCTACAGTTTTG	0.537000													14	203					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403715	85403715	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:85403715G>A	ENST00000370608.3	-	10	1228	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.L359L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	387						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCCAAACCAAGAGCGTAGAGG	0.403000													14	67					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368423	27368423	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:27368423G>C	ENST00000244576.4	+	3	819	c.274G>C	c.(274-276)Gat>Cat	p.D92H		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAACTCCAAAGATAATTCAGA	0.373000													12	58					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157103991	157103991	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157103991T>C	ENST00000368192.4	-	4	377	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	ETV3_ENST00000326786.4_Missense_Mutation_p.K105E	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	105							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CCTTTTGTTTTATGAAGGATC	0.368000													5	34					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857960	9857960	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857960G>A	ENST00000396573.2	-	14	3750	c.3441C>T	c.(3439-3441)ttC>ttT	p.F1147F	GRIN2A_ENST00000330684.3_Silent_p.F1147F|GRIN2A_ENST00000396575.2_Silent_p.F1147F|GRIN2A_ENST00000562109.1_Silent_p.F1147F|GRIN2A_ENST00000404927.2_Silent_p.F1147F|GRIN2A_ENST00000535259.1_Silent_p.F990F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1147					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGTCCGGGAAGTCCACGT	0.527000													6	93					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242291	126242291	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126242291C>T	ENST00000394329.3	+	1	4738	c.4725C>T	c.(4723-4725)ttC>ttT	p.F1575F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1575	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGACACCTTCATTGTTGATC	0.458000													7	154					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52777579	52777579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52777579G>A	ENST00000257951.3	-	2	616	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	184	Coil 1A.|Rod.		R -> Q (in dbSNP:rs1613931).			keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTAGGAACCGAACCTAAATC	0.493000													4	49					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424883	125424883	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125424883A>G	ENST00000373686.1	+	1	1039	c.1039A>G	c.(1039-1041)Aag>Gag	p.K347E				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	347					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CAAAGACATGAAGCAGGGTTT	0.393000													8	82					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539700	56539700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56539700C>T	ENST00000390649.3	+	7	2101	c.2101C>T	c.(2101-2103)Cgc>Tgc	p.R701C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	701						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAGTTTGTTCGCTTGGCATT	0.517000													22	133					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186469	30186469	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30186469G>A	ENST00000397771.2	-	20	2268	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	ASCC2_ENST00000542393.1_Silent_p.L621L|ASCC2_ENST00000307790.3_Silent_p.L697L			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTTTCTTGGCGAGAAAGGCCA	0.597000													6	60					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565887	125565887	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:125565887A>T	ENST00000518547.1	-	14	2087	c.1614T>A	c.(1612-1614)gaT>gaA	p.D538E	MTSS1_ENST00000431961.2_Missense_Mutation_p.D256E|MTSS1_ENST00000395508.2_Missense_Mutation_p.D312E|MTSS1_ENST00000378017.3_Missense_Mutation_p.D513E|MTSS1_ENST00000354184.4_Missense_Mutation_p.D256E|MTSS1_ENST00000325064.5_Missense_Mutation_p.D542E|MTSS1_ENST00000524090.1_Missense_Mutation_p.D428E|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	538					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTCCTGCTGATCTGCCTCCT	0.458000													5	83					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169637340	169637340	+	Silent	SNP	C	C	T	rs151002058		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169637340C>T	ENST00000428432.2	+	3	443	c.54C>T	c.(52-54)atC>atT	p.I18I	SAMD7_ENST00000335556.3_Silent_p.I18I	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCCACTGATCCCCTCACCAT	0.428000													10	134					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325203	74325203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74325203C>T	ENST00000322348.4	-	1	1521	c.660G>A	c.(658-660)tgG>tgA	p.W220*		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	220					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TAACATATTTCCACTGGATTG	0.398000													8	95					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186697847	186697847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186697847G>A	ENST00000343098.5	+	23	20885	c.20885G>A	c.(20884-20886)gGa>gAa	p.G6962E	FSIP2_ENST00000424728.1_Missense_Mutation_p.G6873E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCCAAACAAGGATCTAAAATG	0.378000													6	43					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918410	11918410	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11918410G>A	ENST00000376468.3	-	2	346	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	83					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	TGCCCTCGGTGGCTACCTCCC	0.642000													4	68					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85613350	85613350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:85613350G>A	ENST00000376447.3	-	13	1995	c.1735C>T	c.(1735-1737)Caa>Taa	p.Q579*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	579					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTTCATTTGGAAATCAACT	0.443000													9	154					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334967	102334967	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102334967C>G	ENST00000395065.3	-	12	1127	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	NXF3_ENST00000425644.1_Intron|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	342						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGACCAGATTCTTCAACATCT	0.502000													38	124					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108224574	108224574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108224574C>T	ENST00000273353.3	-	3	307	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	84	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTACCTCTCCATCTGCTGT	0.328000													5	109					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203735	23203735	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23203735G>A	ENST00000300061.2	+	4	824	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	227					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCATTCAGGAGTGGTATA	0.502000													11	140					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015427	56015427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:56015427G>A	ENST00000327381.5	+	1	479	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	127						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)			CGCGGACGTGGGCACAGACGT	0.687000													5	107					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52661316	52661316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52661316G>A	ENST00000356770.4	-	12	1420	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	PBRM1_ENST00000409767.1_Missense_Mutation_p.S505F|PBRM1_ENST00000394830.3_Missense_Mutation_p.S505F|PBRM1_ENST00000409114.3_Missense_Mutation_p.S505F|PBRM1_ENST00000296302.7_Missense_Mutation_p.S505F|PBRM1_ENST00000409057.1_Missense_Mutation_p.S505F|PBRM1_ENST00000337303.4_Missense_Mutation_p.S505F|PBRM1_ENST00000410007.1_Missense_Mutation_p.S505F			Q86U86	PB1_HUMAN	polybromo 1	505					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACCAGTATCAGAGGTGGCTGA	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								3	59					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180577	20180577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:20180577C>T	ENST00000400331.5	-	7	2859	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K	MACC1_ENST00000332878.4_Missense_Mutation_p.E851K|MACC1_ENST00000589011.1_Missense_Mutation_p.E851K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	851					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTATACTTCCTCAGAAGTG	0.408000													8	175					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345370	53345370	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53345370C>A	ENST00000550600.1	+	5	817	c.763C>A	c.(763-765)Caa>Aaa	p.Q255K	KRT18_ENST00000388837.2_Missense_Mutation_p.Q255K|KRT18_ENST00000388835.3_Missense_Mutation_p.Q255K			P05783	K1C18_HUMAN	keratin 18	255	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CATCCGGGCCCAATATGACGA	0.587000													3	52					1	1	1	1	0
FLT3	2322	broad.mit.edu	37	13	28611406	28611406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28611406G>A	ENST00000380982.4	-	10	1306	c.1225C>T	c.(1225-1227)Cat>Tat	p.H409Y	FLT3_ENST00000241453.7_Missense_Mutation_p.H409Y|FLT3_ENST00000537084.1_Missense_Mutation_p.H409Y			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	409					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTGCTTATGATTGCAAAAC	0.378000			"""Mis, O"""		"""AML, ALL"""								12	130					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381650	102381650	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:102381650G>A	ENST00000419462.1	+	0	1062					NR_002182.1																						AGAGGTCGATGAAACAGGTGT	0.428000													4	53					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67188749	67188749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:67188749G>A	ENST00000269081.4	-	17	2735	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	609	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAACAAAGATGATCCTGCACA	0.323000													18	167					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319920	31319920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31319920C>T	ENST00000269197.5	+	11	2552	c.2552C>T	c.(2551-2553)tCa>tTa	p.S851L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACCCTGCTTCAATTCCAGAA	0.388000													6	26					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891226	29891226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:29891226C>T	ENST00000400549.1	-	2	97	c.98G>A	c.(97-99)aGc>aAc	p.S33N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	33					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCTCTCGGCTCTTGCCATT	0.453000													6	68					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294109	28294109	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:28294109T>C	ENST00000414429.1	-	8	1958	c.1055A>G	c.(1054-1056)cAg>cGg	p.Q352R	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.Q352R|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.Q352R|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.Q193R|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.Q352R					zinc finger and SCAN domain containing 31																		CTCACGACACTGATAGCGCTT	0.502000													17	178					0	0	1	0	0
MIR299	407023	broad.mit.edu	37	14	101490179	101490179	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101490179G>A	ENST00000385016.2	+	0	66					NR_029841.1																						TATGTGGGATGGTAAACCGCT	0.537000													20	68					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236960	23236960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23236960G>A	ENST00000400191.3	+	14	2606	c.2588G>A	c.(2587-2589)tGg>tAg	p.W863*	EPHB2_ENST00000374632.3_Nonsense_Mutation_p.W864*|EPHB2_ENST00000374627.1_Nonsense_Mutation_p.W858*|EPHB2_ENST00000374630.3_Nonsense_Mutation_p.W863*	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	863	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTGGACTGTTGGCAGAAGGAC	0.587000													14	153					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276763	152276763	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276763C>T	ENST00000368799.1	-	3	10634	c.10599G>A	c.(10597-10599)agG>agA	p.R3533R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCTGGTTCCTGCTTGTCC	0.577000									Ichthyosis				20	239					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94120311	94120311	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94120311C>T	ENST00000553484.1	+	39	6559	c.6405C>T	c.(6403-6405)gcC>gcT	p.A2135A	UNC79_ENST00000393151.2_Silent_p.A2113A|UNC79_ENST00000555664.1_Silent_p.A2074A|UNC79_ENST00000256339.4_Silent_p.A1936A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2113						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						GGACCTTAGCCTCGTCTCTGA	0.507000													12	193					0	0	1	0	0
PPIF	10105	broad.mit.edu	37	10	81109470	81109470	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:81109470C>T	ENST00000225174.3	+	3	347	c.276C>T	c.(274-276)ggC>ggT	p.G92G	PPIF_ENST00000492149.1_3'UTR|PPIF_ENST00000394579.3_Silent_p.G92G	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	92	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	GCTACAAAGGCTCCACCTTCC	0.557000													4	60					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794428	141794428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141794428G>A	ENST00000475668.2	+	62	7369	c.7315G>A	c.(7315-7317)Gag>Aag	p.E2439K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1543K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1543					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCATGATGGAGTTCAGCCT	0.547000													11	74					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062858	46062858	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46062858G>A	ENST00000309285.3	-	2	938	c.582C>T	c.(580-582)ttC>ttT	p.F194F	XCR1_ENST00000542109.1_Silent_p.F194F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	194					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGACAGCAGGAAGAAGAGGT	0.567000													4	53					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73680333	73680333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:73680333C>T	ENST00000339764.1	+	7	1514	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C	DNAJB13_ENST00000543947.1_Missense_Mutation_p.R80C|DNAJB13_ENST00000537753.1_Missense_Mutation_p.R80C|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	255					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCTAGATGACCGTCTGCTCAA	0.572000													10	104					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58186759	58186759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:58186759C>T	ENST00000483681.1	-	7	1092	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V171I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V141I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V171I			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	171					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCGTGTAGACCTCAACCAAC	0.557000													22	316					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77057348	77057348	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:77057348G>A	ENST00000264883.3	-	4	653	c.513C>T	c.(511-513)tgC>tgT	p.C171C	NUP54_ENST00000514987.1_Silent_p.C123C|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	171	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CCTTAAATCGGCAAAAGGGAT	0.318000													8	109					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140807694	140807694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140807694G>A	ENST00000371372.1	+	4	738	c.593G>A	c.(592-594)aGg>aAg	p.R198K	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R198K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R198K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R198K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R198K|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	198					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGTGTGCTGAGGCCCCTGAAG	0.567000													9	51					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25701206	25701206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:25701206G>A	ENST00000376351.3	+	4	1498	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	380						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATATTTCAGGAAGTACAAAA	0.468000													13	123					0	0	1	0	0
MIR182	406958	broad.mit.edu	37	7	129410222	129410222	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:129410222G>A	ENST00000385255.1	-	0	110					NR_029614.1																						CTGTGCACAGGGTGCCGGCTG	0.622000													4	57					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947980	145947980	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145947980C>T	ENST00000292562.7	-	5	1340	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGAAGGCCTTCCCACAGTGAC	0.493000													6	44					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315833	50315833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50315833C>T	ENST00000332853.3	-	2	286	c.263G>A	c.(262-264)gGg>gAg	p.G88E	VSTM4_ENST00000298454.3_Missense_Mutation_p.G88E	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	88	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCTGAAATTCCCATAGTACTG	0.627000													7	64					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2433865	2433865	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2433865G>A	ENST00000325327.3	-	8	1503	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	LMNB2_ENST00000582871.1_Silent_p.L461L			Q03252	LMNB2_HUMAN	lamin B2	461	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCTCCAGGTCGATCTCC	0.662000													7	123					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123276650	123276650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:123276650G>A	ENST00000253079.6	+	6	1098	c.754G>A	c.(754-756)Gat>Aat	p.D252N	CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.D252N|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	252						cytoplasm|nucleus		p.D252N(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCCTGCACGATGAATTGCT	0.393000													5	62					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368006	72368006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72368006G>A	ENST00000335666.4	+	4	704	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	219						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTCCTGCAGGGAGCAGTGCTG	0.632000													6	48					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699225	49699225	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:49699225G>A	ENST00000303221.5	-	6	879	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.L168L|EMB_ENST00000514111.1_Silent_p.L172L	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	222	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTTATCTTCAGCTTTGTTTCG	0.388000													3	38					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13368211	13368211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:13368211C>T	ENST00000360228.5	-	28	4542	c.4543G>A	c.(4543-4545)Gag>Aag	p.E1515K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1516K	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	1516					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)	TCCCCTTGCTCCTGGAAGGTG	0.453000													6	57					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421381	100421381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100421381G>A	ENST00000358173.3	-	3	764	c.296C>T	c.(295-297)tCc>tTc	p.S99F	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.S99F	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	99					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGAGGCAGGGACAGGCACTC	0.692000													23	120					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48059943	48059943	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:48059943A>T	ENST00000403359.3	-	9	1190	c.1118T>A	c.(1117-1119)aTt>aAt	p.I373N	FBXO11_ENST00000402508.1_Missense_Mutation_p.I289N|FBXO11_ENST00000316377.4_Missense_Mutation_p.I289N	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	373					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGATCAATAATAGGGCTACA	0.333000			"""Mis, F, D"""		DLBCL								7	184					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164636	15164636	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15164636G>A	ENST00000427043.3	+	4	578	c.270G>A	c.(268-270)ggG>ggA	p.G90G	CASP14_ENST00000221740.1_Silent_p.G90G	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	90					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TGGCTCACGGGAGGGAAGGCT	0.557000													7	87					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857113	35857113	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35857113T>A	ENST00000303115.3	+	1	163	c.34T>A	c.(34-36)Ttt>Att	p.F12I	IL7R_ENST00000511982.1_Missense_Mutation_p.F12I|IL7R_ENST00000511031.1_Intron|IL7R_ENST00000343305.4_Missense_Mutation_p.F12I|IL7R_ENST00000506850.1_Missense_Mutation_p.F12I	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	12					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGGCATGGTTTTTTCTTTACT	0.373000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	93					0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40133998	40133998	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40133998A>G	ENST00000457167.4	-	12	1495	c.1259T>C	c.(1258-1260)gTt>gCt	p.V420A	DNAJC7_ENST00000426588.3_Missense_Mutation_p.V364A|DNAJC7_ENST00000316603.7_Missense_Mutation_p.V364A	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	420	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTCCTTCTGAACCTCAGCACT	0.428000													8	63					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171108	150171108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150171108G>A	ENST00000307271.3	+	4	1265	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	231						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGGCCCAAGGGAAAGGCAGCT	0.527000													5	90					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770289	38770289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38770289G>A	ENST00000449082.2	-	15	2383	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	795					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACAATGATGGCCAGGATGAT	0.522000													10	105					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399709	46399709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46399709C>T	ENST00000292301.4	+	2	1176	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.R231W|CCR2_ENST00000445132.2_Missense_Mutation_p.R231W	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	231					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AACCCTGCTTCGGTGTCGAAA	0.448000													29	220					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15590553	15590553	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:15590553G>A	ENST00000378076.3	-	27	3134	c.2781C>T	c.(2779-2781)atC>atT	p.I927I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	927					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						GTAAACACTCGATATTTGTAC	0.453000													5	43					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634325	156634325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:156634325G>A	ENST00000296518.7	+	7	1371	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D388N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D388N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D388N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D388N|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D130N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D388N			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	388					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACCCTGTGTGGACAGATTAGA	0.453000													3	41					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650188	75650188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:75650188G>A	ENST00000361470.2	+	1	2143	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	622	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCCATTTTTGGGAACCCAAAG	0.488000													5	23					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943663	9943663	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9943663G>A	ENST00000396573.2	-	6	1587	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	GRIN2A_ENST00000330684.3_Silent_p.T426T|GRIN2A_ENST00000396575.2_Silent_p.T426T|GRIN2A_ENST00000562109.1_Silent_p.T426T|GRIN2A_ENST00000404927.2_Silent_p.T426T|GRIN2A_ENST00000535259.1_Silent_p.T269T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	426					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T426T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACGTCTCGGTCAGGGGGT	0.542000													6	87					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954658	33954658	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:33954658T>A	ENST00000389232.4	+	35	4997	c.4927T>A	c.(4927-4929)Ttc>Atc	p.F1643I	RYR3_ENST00000415757.3_Missense_Mutation_p.F1643I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1643	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATCCGCCTCTTCCCGGACGA	0.572000													4	38					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11376073	11376073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:11376073G>A	ENST00000315872.6	-	5	926	c.478C>T	c.(478-480)Caa>Taa	p.Q160*	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	160	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTATCATCTTGAAAGGCATAA	0.308000													6	47					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255384	50255384	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:50255384C>T	ENST00000420502.1	+	0	1044							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTTCGCCTTCGTCTGCCACC	0.617000													4	70					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30926343	30926343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:30926343C>T	ENST00000383096.3	-	9	672	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CCDC178_ENST00000300227.8_Missense_Mutation_p.E164K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E164K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E164K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E164K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E164K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E164K|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		AGCAATGTTTCCATTTCCTGC	0.368000													6	80					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242046056	242046056	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242046056C>T	ENST00000405260.1	-	18	4595	c.3897G>A	c.(3895-3897)ggG>ggA	p.G1299G	PASK_ENST00000358649.4_Silent_p.G1306G|PASK_ENST00000234040.4_Silent_p.G1299G|PASK_ENST00000544142.1_Silent_p.G1113G|PASK_ENST00000539818.1_Silent_p.G1083G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1299					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAACGGGGCCCCCACAAAGCT	0.572000													9	93					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660508	34660508	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:34660508G>A	ENST00000555003.1	+	11	2436	c.1080G>A	c.(1078-1080)agG>agA	p.R360R	IL11RA_ENST00000378817.4_Silent_p.R360R|IL11RA_ENST00000318041.9_Silent_p.R360R|IL11RA_ENST00000602473.1_Silent_p.R360R|IL11RA_ENST00000441545.2_Silent_p.R360R			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	360						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CAGATCACAGGGACTCTGTGG	0.577000													4	45					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669819	78669819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:78669819C>T	ENST00000286627.5	-	24	3830	c.2878G>A	c.(2878-2880)Gat>Aat	p.D960N	KCNMA1_ENST00000372443.1_Missense_Mutation_p.D987N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D1018N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D960N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D1021N|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D1022N|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D1001N|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D1018N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1018					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATCATCATCGTCTTGGTCC	0.478000													5	44					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404131	20404131	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20404131C>T	ENST00000285600.4	+	1	365	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCCAGATATTCGTTCTTCACA	0.413000													6	56					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135517413	135517413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:135517413C>T	ENST00000372159.3	-	14	1884	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	DDX31_ENST00000310532.2_Missense_Mutation_p.R578K|DDX31_ENST00000438527.3_Missense_Mutation_p.R449K|DDX31_ENST00000372153.1_Missense_Mutation_p.R578K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	578	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GACGCCTCTTCTGGAATGTGA	0.428000													9	53					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201273	187201273	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187201273C>A	ENST00000264692.4	+	8	1040	c.707C>A	c.(706-708)cCa>cAa	p.P236Q	F11_ENST00000403665.2_Missense_Mutation_p.P288Q			P03951	FA11_HUMAN	coagulation factor XI	288	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CACAGCATCCCAGGTAAACTG	0.502000													5	44					1	1	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809741	18809741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:18809741C>T	ENST00000400664.1	+	1	2318	c.2266C>T	c.(2266-2268)Ccg>Tcg	p.P756S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	756						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCCCGGCCCCGCAGGGCAC	0.627000													26	181					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416468	48416468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:48416468G>A	ENST00000249598.1	-	1	385	c.226C>T	c.(226-228)Cct>Tct	p.P76S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	76					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCTGCGAAGGGACCCCACTC	0.557000													6	90					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925560	55925560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55925560C>T	ENST00000244728.5	-	27	2783	c.2386G>A	c.(2386-2388)Gtt>Att	p.V796I	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.V196I|COL21A1_ENST00000370819.1_Missense_Mutation_p.V793I|COL21A1_ENST00000535941.1_Missense_Mutation_p.V796I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	796					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTGTGCAAACTTGTCGAATA	0.303000													7	50					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032120	197032120	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197032120G>A	ENST00000367412.1	-	2	175	c.132C>T	c.(130-132)agC>agT	p.S44S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	44	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GAAAGTAAAAGCTTTTAAAAG	0.358000													13	88					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43649366	43649366	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43649366G>A	ENST00000372492.4	+	4	903	c.579G>A	c.(577-579)caG>caA	p.Q193Q	WDR65_ENST00000528956.1_Silent_p.Q193Q	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	193										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGCTTTCAGAGGGGAGAAC	0.493000													9	90					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753954	3753954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:3753954G>A	ENST00000378230.3	-	9	1345	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	341						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTTCCTGAAGGAAAGGTTCT	0.478000													7	44					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77862314	77862314	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:77862314G>A	ENST00000407578.2	-	3	842	c.576C>T	c.(574-576)ccC>ccT	p.P192P	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.P154P|MYCBP2_ENST00000544440.2_Silent_p.P154P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTGATAGGGGGCTCTTTGG	0.408000													13	156					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145579670	145579670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145579670G>A	ENST00000331890.5	-	8	1494	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.S471F	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	477					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAGGTTAAGAGAGCACAGGGC	0.627000													4	99					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200534574	200534574	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200534574G>A	ENST00000367350.4	-	24	4323	c.3886_splice	c.e24+1	p.N1295_splice		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1295	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTGCTTACAGTTATCTTGAC	0.338000													7	21					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801031	42801031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:42801031C>T	ENST00000514985.1	-	5	1193	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	SEPP1_ENST00000511224.1_Missense_Mutation_p.G313R|SEPP1_ENST00000507920.1_3'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.G313R|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	313					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATTGCAGACCCTGTTTTTTCA	0.433000													4	98					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914427	111914427	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:111914427C>T	ENST00000371968.3	-	2	431	c.192G>A	c.(190-192)gtG>gtA	p.V64V	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.V64V	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	64						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CACATTCTTCCACCATGATCA	0.587000													7	74					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192421	22192421	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22192421C>T	ENST00000390425.2	+	0	372																											CCTCCAGTTCCTTCTGAAATA	0.448000													10	70					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797758	71797758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:71797758G>A	ENST00000258104.3	+	29	3338	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	DYSF_ENST00000409744.1_Missense_Mutation_p.E1008K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1039K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1053K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1022K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1022K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1021K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1052K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1038K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1039K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1038K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1021						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCCCCCGGAGCGGAAGCC	0.617000													4	27					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586422	189586422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:189586422G>A	ENST00000264731.3	+	8	1135	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	TP63_ENST00000418709.2_Missense_Mutation_p.G349E|TP63_ENST00000392460.3_Missense_Mutation_p.G349E|TP63_ENST00000456148.1_Missense_Mutation_p.G255E|TP63_ENST00000392461.3_Missense_Mutation_p.G255E|TP63_ENST00000449992.1_Missense_Mutation_p.G170E|TP63_ENST00000382063.4_Missense_Mutation_p.G264E|TP63_ENST00000440651.2_Missense_Mutation_p.G349E|TP63_ENST00000320472.5_Missense_Mutation_p.G349E|TP63_ENST00000437221.1_Missense_Mutation_p.G255E|TP63_ENST00000392463.2_Missense_Mutation_p.G255E|TP63_ENST00000354600.5_Missense_Mutation_p.G255E	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	349					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTTGCCCAGGAAGAGACAGG	0.488000										HNSCC(45;0.13)			8	54					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329632	74329632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:74329632C>T	ENST00000263681.2	+	6	572	c.443C>T	c.(442-444)tCc>tTc	p.S148F	POLD3_ENST00000532497.1_Missense_Mutation_p.S42F|POLD3_ENST00000527458.1_Missense_Mutation_p.S109F	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	148					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCTGCTGAATCCTCTTCGTCT	0.458000													10	167					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4119157	4119157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4119157C>T	ENST00000404826.2	+	22	3404	c.3265C>T	c.(3265-3267)Cag>Tag	p.Q1089*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q1089*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1089	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCCACCCTTCAGTTCCGGCC	0.562000													19	171					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891890	132891890	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:132891890T>C	ENST00000275198.1	+	1	430	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	144						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)		TCCTACCAAGTTCACCGTATC	0.498000													22	248					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13786343	13786343	+	Missense_Mutation	SNP	C	C	T	rs148539877	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13786343C>T	ENST00000265104.4	-	52	8869	c.8765G>A	c.(8764-8766)cGt>cAt	p.R2922H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2922	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2922H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCGGCGCCACGGATGCTCTC	0.458000									Kartagener syndrome				3	30					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408800	178408800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:178408800G>A	ENST00000231188.5	-	10	2670	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	GRM6_ENST00000517717.1_Missense_Mutation_p.S831F|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	831					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CATGCCGAGGGACACCGAGGC	0.577000													9	218					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152453312	152453312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152453312G>A	ENST00000367255.5	-	144	26640	c.26039C>T	c.(26038-26040)aCc>aTc	p.T8680I	SYNE1_ENST00000354674.4_Missense_Mutation_p.T858I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8632I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8680I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8632I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T3204I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8292I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T835I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8680	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACCCTGAGGTGTCCAGTTC	0.507000										HNSCC(10;0.0054)			16	161					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026252	56026252	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:56026252C>T	ENST00000288221.6	-	11	2343	c.2088G>A	c.(2086-2088)agG>agA	p.R696R		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	696						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)		CAGGGTTCATCCTGGAGTCAT	0.433000													8	102					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473590	141473590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141473590G>A	ENST00000389484.3	-	37	6946	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1992					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)		CAGGCCTTGGGAAATAATTAC	0.353000										TSP Lung(27;0.18)			6	47					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103275896	103275896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:103275896G>A	ENST00000428762.1	-	19	2600	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	RELN_ENST00000424685.2_Missense_Mutation_p.S814L|RELN_ENST00000343529.5_Missense_Mutation_p.S814L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	814					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTGAGATATGAATAATGCTC	0.408000													7	56					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630651	12630651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:12630651C>T	ENST00000228862.2	-	7	1745	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	372					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGGCTGTCCTCTAACAGCGAC	0.622000													7	41					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335667	115335667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:115335667C>T	ENST00000351270.3	+	4	331	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	HABP2_ENST00000541666.1_Missense_Mutation_p.P79S|HABP2_ENST00000537906.1_Silent_p.S67S|HABP2_ENST00000542051.1_Missense_Mutation_p.P53S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	79	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCCATGCCAGCCCAACCCCTG	0.522000													13	312					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74512931	74512931	+	Missense_Mutation	SNP	C	C	T	rs144161107		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74512931C>T	ENST00000394019.2	-	8	767	c.370G>A	c.(370-372)Gga>Aga	p.G124R	SLC4A5_ENST00000358683.4_Missense_Mutation_p.G60R|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G124R|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G60R|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G124R|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G124R|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G124R|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G124R|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	124						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G124R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATCTGGTCTCCGTCATGCTGC	0.622000													5	50					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155327536	155327536	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155327536A>C	ENST00000368346.3	-	14	7454	c.6815T>G	c.(6814-6816)cTt>cGt	p.L2272R	ASH1L_ENST00000392403.3_Missense_Mutation_p.L2267R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2272	Post-SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACACTTACAAAGTTGCTTTGA	0.428000													8	34					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061578	40061578	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40061578C>T	ENST00000336649.4	+	25	3945	c.3945C>T	c.(3943-3945)atC>atT	p.I1315I	CACNA1I_ENST00000400164.3_Silent_p.I1274I|CACNA1I_ENST00000402142.3_Silent_p.I1309I|CACNA1I_ENST00000404898.1_Silent_p.I1274I|CACNA1I_ENST00000407673.1_Silent_p.I1274I|CACNA1I_ENST00000401624.1_Silent_p.I1309I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1309					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCGGCAACATCGTGCTCATCT	0.622000													13	79					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85555012	85555012	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:85555012C>T	ENST00000295887.5	+	7	1065	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	214					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.F214F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATTAACAGTTCGCATGGACTC	0.393000													7	69					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189458	44189458	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:44189458C>T	ENST00000403799.3	-	6	1049	c.579_splice	c.e6-1	p.D194_splice	GCK_ENST00000345378.2_Splice_Site_p.D195_splice|GCK_ENST00000395796.3_Splice_Site_p.D193_splice|GCK_ENST00000437084.1_Splice_Site_p.D177_splice	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	194					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATTTCAAAGTCCTGCCAAGAA	0.597000													10	112					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714114	32714114	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32714114C>T	ENST00000374940.3	+	4	813	c.711C>T	c.(709-711)gtC>gtT	p.V237V		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	237					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGCACTGTCTTCATCATCC	0.532000													7	103					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11293491	11293491	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11293491G>A	ENST00000361445.4	-	15	2461	c.2385C>T	c.(2383-2385)atC>atT	p.I795I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	795					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGACATTATTGATCACACCTG	0.403000													6	93					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976071	120976071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120976071C>T	ENST00000273666.6	+	17	1994	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P575S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P575S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P575S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P575S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	575					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAACAAGTCCTCCGTTTCC	0.388000													12	115					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339312	124339312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124339312G>A	ENST00000338354.3	+	10	1004	c.898G>A	c.(898-900)Gat>Aat	p.D300N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D300N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D300N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D300N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D300N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D300N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	300	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCCTGGATGATGTGCGCTG	0.597000													20	152					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526407	234526407	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:234526407G>A	ENST00000373450.4	+	1	117	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCTGCTGCTGACCTGTGGCT	0.577000													14	84					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239564	142239564	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142239564C>T	ENST00000390363.2	-	0	362																											AAATACAAAGCTGAGTCCCCC	0.517000													6	107					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306888	61306888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61306888C>T	ENST00000341074.5	-	6	707	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E198K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CAAAATTTTTCCTCTTTAGTG	0.308000													3	23					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947271	165947271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:165947271C>T	ENST00000360093.3	-	28	5883	c.5392G>A	c.(5392-5394)Gaa>Aaa	p.E1798K	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1749K|SCN3A_ENST00000540861.1_Missense_Mutation_p.E281K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1798K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAAACTTTTCCCAAACCTCA	0.463000													10	69					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678502	2678502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2678502G>A	ENST00000274643.7	-	10	1334	c.992C>T	c.(991-993)tCg>tTg	p.S331L	MYLK4_ENST00000268446.5_Missense_Mutation_p.S331L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	331	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGCCTCCTCCGAGATGTCCTG	0.517000													38	166					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907790	43907790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43907790C>T	ENST00000562955.1	+	55	7691	c.7691C>T	c.(7690-7692)cCa>cTa	p.P2564L	SZT2_ENST00000372442.1_Missense_Mutation_p.P1722L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2621						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGAGGAGACCAACACAGCAG	0.652000													5	56					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522961	20522961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:20522961G>A	ENST00000359062.3	+	1	783	c.743G>A	c.(742-744)gGg>gAg	p.G248E	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	248					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGCGTGCTGGGGATCCTCTTG	0.607000													5	57					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530445	125530445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:125530445C>T	ENST00000431078.1	+	17	2964	c.2600C>T	c.(2599-2601)tCt>tTt	p.S867F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	867	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTCTCCTTCTCTTCTGAAT	0.527000													4	67					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812573	140812573	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140812573C>T	ENST00000252085.3	+	1	2389	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_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)			TGCAGGCTTTCCTGCAGACCT	0.637000													11	166					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757561	61757561	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:61757561C>T	ENST00000423902.2	+	22	5468	c.4989C>T	c.(4987-4989)ttC>ttT	p.F1663F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1663					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCAAAAGCTTCATCTGGGATC	0.478000													20	182					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47317850	47317850	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47317850G>A	ENST00000285093.10	-	7	1348	c.873C>T	c.(871-873)atC>atT	p.I291I	ACAA2_ENST00000589432.1_Silent_p.I236I|ACAA2_ENST00000587994.1_Silent_p.I288I	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	291					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CAATACCCATGATAGAGGGAT	0.388000													5	94					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845298	53845298	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:53845298G>A	ENST00000288139.3	+	49	6529	c.6411G>A	c.(6409-6411)ggG>ggA	p.G2137G	CACNA1D_ENST00000350061.5_Silent_p.G2117G|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Silent_p.G2093G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2117					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)	GAGCCAACGGGGATGTGGGCC	0.602000													5	80					0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385538	43385538	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:43385538C>T	ENST00000372851.3	-	5	658		c.e5+1		RIMS4_ENST00000541604.2_Splice_Site	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGCCCCTCACCTGGAGGACT	0.587000													31	320					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99030974	99030974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99030974C>T	ENST00000292478.4	-	3	771	c.521G>A	c.(520-522)aGc>aAc	p.S174N	PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.S223N|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S223N	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGTGTAGTTGCTCTCCATGGG	0.622000													27	262					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127875	117127875	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117127875C>T	ENST00000310357.3	-	3	1014	c.993G>A	c.(991-993)ggG>ggA	p.G331G	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.G331G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	331					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGATATATTCCCTCTTCTAA	0.403000													4	76					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104377	142104377	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142104377G>A	ENST00000390379.1	-	0	87																											TTCAGGATGTGGAATTTTGGG	0.537000													12	73					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502271	90502271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:90502271G>A	ENST00000325643.5	+	4	2935	c.2869G>A	c.(2869-2871)Ggg>Agg	p.G957R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAAGGGCAGGGGGTGTTCTCA	0.617000													8	78					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6443401	6443401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6443401C>T	ENST00000162749.2	-	2	348	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.E17K|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.E17K|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	17					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACCAACAGCTCCAGGAGCACC	0.512000													6	64					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400581	85400581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:85400581C>T	ENST00000258888.5	+	6	3385	c.3218C>T	c.(3217-3219)cCt>cTt	p.P1073L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1073					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTTCTCTTCCTGGAACTGGG	0.642000													3	60					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870692	50870692	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50870692C>T	ENST00000395562.2	+	15	2064	c.1593_splice	c.e15-1	p.A532_splice	CHAT_ENST00000339797.1_Splice_Site_p.A496_splice|CHAT_ENST00000351556.3_Splice_Site_p.A496_splice|CHAT_ENST00000395559.2_Splice_Site_p.A496_splice|CHAT_ENST00000337653.2_Splice_Site_p.A614_splice|CHAT_ENST00000455728.2_Splice_Site_p.A496_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	614	Coenzyme A binding.				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACTACACAGGCCATAACAGGG	0.572000													13	120					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77636804	77636804	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:77636804A>G	ENST00000407578.2	-	74	12967	c.12701T>C	c.(12700-12702)gTt>gCt	p.V4234A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.V4196A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.V4196A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGATCAAGAACACATAGGGA	0.428000													6	90					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150839561	150839561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150839561G>A	ENST00000370357.4	+	12	1368	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	375						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGAACTGGAACTGATGAA	0.443000													20	124					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606818	54606818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:54606818G>A	ENST00000371330.1	-	3	1563	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	239	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTTGAAGTCGGACTTGAAGAC	0.647000													4	52					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140156541	140156541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140156541G>A	ENST00000480552.1	-	3	344	c.248C>T	c.(247-249)tCg>tTg	p.S83L	MKRN1_ENST00000443720.2_Silent_p.F299F|MKRN1_ENST00000255977.2_Silent_p.F299F|MKRN1_ENST00000437223.2_Silent_p.F33F|MKRN1_ENST00000474576.1_Silent_p.F235F			Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	117							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGAGGATCCCGAAGCGGCGCT	0.527000													15	121					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712416	41712416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:41712416C>T	ENST00000373025.3	-	2	252	c.190G>A	c.(190-192)Gag>Aag	p.E64K	PGC_ENST00000425343.2_Missense_Mutation_p.E64K	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	64					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCCATGGGCTCGTAGGTCACG	0.582000													4	56					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717004	222717004	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:222717004G>A	ENST00000343410.6	-	2	907	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	283					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATTGTGGCGGAATTTGGGGT	0.488000													15	138					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891842	18891842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18891842G>A	ENST00000317658.3	+	1	798	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	214					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAAAGCTTGGAAATAGTTAA	0.398000													7	34					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277286	152277286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152277286C>T	ENST00000368799.1	-	3	10111	c.10076G>A	c.(10075-10077)gGa>gAa	p.G3359E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3359	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGCCTGTCCATGGCCTGA	0.582000									Ichthyosis				28	677					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63206669	63206669	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:63206669G>A	ENST00000449996.3	+	17	1416	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	RGS9_ENST00000262406.9_Silent_p.Q451Q|RGS9_ENST00000443584.3_Silent_p.Q448Q	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	451					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCTGAGACAGCTGGAAGAGG	0.577000													10	99					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38933310	38933310	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38933310T>A	ENST00000301656.3	-	8	1361	c.1321A>T	c.(1321-1323)Act>Tct	p.T441S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	441	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTTCCACAGTGTGAACTCTG	0.413000													7	68					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68616181	68616181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:68616181G>A	ENST00000396496.2	-	2	294	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	CCDC125_ENST00000511257.1_Intron|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.P63S|CCDC125_ENST00000383374.2_Missense_Mutation_p.P63S			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	63						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCCTTTCTCGGAAATGGAGGA	0.408000													9	92					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244716054	244716054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:244716054C>T	ENST00000366534.4	+	9	1021	c.967C>T	c.(967-969)Cct>Tct	p.P323S	C1orf101_ENST00000366531.3_Missense_Mutation_p.P172S|C1orf101_ENST00000366533.4_Missense_Mutation_p.P323S|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	323						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGTAAATCTTCCTGATGGTGG	0.294000													11	110					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81954867	81954867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81954867C>T	ENST00000359376.3	+	21	2514	c.2300C>T	c.(2299-2301)cCg>cTg	p.P767L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	767					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAATCAATCCGTCCATGGTA	0.438000													6	58					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898467	6898467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6898467G>A	ENST00000379829.2	+	1	612	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTGTGTTTGAACTGGAGGC	0.498000													6	71					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465319	37465319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37465319C>T	ENST00000381792.2	-	16	2047	c.1907G>A	c.(1906-1908)gGa>gAa	p.G636E	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G636E|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G636E|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G645E			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	645	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGACACCTCTCCAGGCCAGCG	0.672000													14	35					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136916766	136916766	+	Silent	SNP	C	C	T	rs12339799		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:136916766C>T	ENST00000303407.7	-	4	602	c.417G>A	c.(415-417)caG>caA	p.Q139Q	BRD3_ENST00000371834.2_Silent_p.Q139Q|BRD3_ENST00000357885.2_Silent_p.Q139Q	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	139						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTTGGGGCATCTGGGCCACTT	0.532000			T	C15orf55	lethal midline carcinoma of young people								11	44					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163361035	163361035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:163361035G>A	ENST00000332142.5	-	6	1145	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	KCNH7_ENST00000328032.4_Missense_Mutation_p.S342L|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	349					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGAGGTGATGAATTCTTTTT	0.388000													8	87					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708106	43708106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43708106G>A	ENST00000405312.3	-	2	599	c.362C>T	c.(361-363)aCc>aTc	p.T121I	PSG4_ENST00000433626.2_Missense_Mutation_p.T121I|PSG4_ENST00000244295.9_Missense_Mutation_p.T121I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GATGTGTAAGGTGTAGGATCC	0.478000													32	257					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89615201	89615201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:89615201G>A	ENST00000294671.2	-	7	1064	c.926C>T	c.(925-927)cCt>cTt	p.P309L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	309						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTCCAGACAAGGAGTCGCTCC	0.527000													9	61					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35812603	35812603	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:35812603T>C	ENST00000237530.6	+	2	345	c.34T>C	c.(34-36)Ttg>Ctg	p.L12L	RPN2_ENST00000373622.5_Silent_p.L12L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	12					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGTCTTCCTGTTGGCCCTGAC	0.522000													17	125					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578956	82578956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82578956C>T	ENST00000423517.2	-	6	11285	c.10948G>A	c.(10948-10950)Gat>Aat	p.D3650N	PCLO_ENST00000333891.8_Missense_Mutation_p.D3650N|PCLO_ENST00000437081.1_Missense_Mutation_p.D370N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3581					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						GGACTTATATCATCAGGGAGG	0.468000													7	181					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52360782	52360782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52360782G>A	ENST00000296585.5	+	14	1786	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	548					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGCCCCGAGGGCATTGAAAAC	0.398000													9	74					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471313	31471313	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31471313C>T	ENST00000457010.2	+	1	1169	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ARMC5_ENST00000538189.1_Silent_p.L188L|ARMC5_ENST00000268314.4_Silent_p.L156L|ARMC5_ENST00000412665.2_5'UTR|ARMC5_ENST00000408912.3_Silent_p.L251L|ARMC5_ENST00000563544.1_Silent_p.L156L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	156							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGGCATACTCCCTTTGGGTA	0.587000													9	116					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41160570	41160570	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:41160570G>A	ENST00000483722.1	-	4	1040	c.855C>T	c.(853-855)gtC>gtT	p.V285V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	285			V -> I (in dbSNP:rs35521209).		T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAACCCATAGACCATGATCA	0.557000													6	80					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44433325	44433325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:44433325C>T	ENST00000291547.5	+	5	710	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50S	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	167							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GCCTGGAAGCCCGTACTCACC	0.473000													5	103					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174734	51174734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174734G>A	ENST00000440970.1	-	2	1539	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.H467Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	467					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACGCAAGTGGATCTGCAAG	0.517000													19	128					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211322	71211322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:71211322G>A	ENST00000272421.6	+	6	1239	c.973G>A	c.(973-975)Gac>Aac	p.D325N	ANKRD53_ENST00000441349.1_Missense_Mutation_p.D236N|ANKRD53_ENST00000360589.3_Intron|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	0										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CCTATGGCAGGACATTTCTCT	0.488000													16	100					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100831779	100831779	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:100831779A>T	ENST00000358544.2	+	48	8947	c.8836A>T	c.(8836-8838)Ata>Tta	p.I2946L	VPS13B_ENST00000357162.2_Missense_Mutation_p.I2921L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2946					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTTCAACCCATATGGCCCTA	0.368000													3	24					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847568	65847568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:65847568C>T	ENST00000308259.5	+	6	627	c.353C>T	c.(352-354)tCc>tTc	p.S118F	MSRB3_ENST00000535664.1_Missense_Mutation_p.S118F|MSRB3_ENST00000355192.3_Missense_Mutation_p.S125F|MSRB3_ENST00000540804.1_Missense_Mutation_p.S125F	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	125					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGACTTTTCCTATGGGATG	0.458000													5	76					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47865836	47865836	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47865836C>T	ENST00000328771.4	+	6	1828	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	493	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCCGGGCGGGCCGCACGGGCC	0.647000													7	27					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024487	55024487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:55024487G>A	ENST00000324000.3	+	3	2680	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	216					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAGCATCCTGGAAAAATATTA	0.408000													10	82					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125423950	125423950	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125423950A>G	ENST00000373686.1	+	1	106	c.106A>G	c.(106-108)Aga>Gga	p.R36G				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGATGTTGGAAGAATCTGTTA	0.343000													6	59					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751844	247751844	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247751844G>A	ENST00000320065.1	+	1	183	c.183G>A	c.(181-183)ccG>ccA	p.P61P	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCATATGCCGATGTATTTCT	0.433000													4	108					0	0	1	0	0
WDR89	112840	broad.mit.edu	37	14	64066643	64066643	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64066643T>A	ENST00000394942.2	-	2	106	c.18A>T	c.(16-18)gaA>gaT	p.E6D	WDR89_ENST00000267522.3_Missense_Mutation_p.E6D	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	6										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TAGCAAATTGTTCCTCAATCT	0.353000													3	65					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:140995048G>A	ENST00000285879.4	+	4	2144	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	620							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)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)			34	148					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113253678	113253678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:113253678G>A	ENST00000606505.1	-	2	105	c.106C>T	c.(106-108)Cga>Tga	p.R36*	RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000464951.1_Silent_p.I148I|PPM1J_ENST00000359994.4_Silent_p.I148I|PPM1J_ENST00000309276.6_Silent_p.I354I																							CCTCCAGCTCGATCTTTTTGT	0.562000													62	434					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152831412	152831412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152831412G>A	ENST00000367255.5	-	8	1098	c.497C>T	c.(496-498)cCa>cTa	p.P166L	SYNE1_ENST00000448038.1_Missense_Mutation_p.P173L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P166L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P166L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P173L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P166L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P173L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P166L|SYNE1_ENST00000367253.4_Missense_Mutation_p.P166L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	166	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTACTTGGTGGGCTGGGAGT	0.488000										HNSCC(10;0.0054)			4	86					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32594746	32594746	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:32594746T>C	ENST00000319778.6	-	2	569	c.267A>G	c.(265-267)atA>atG	p.I89M	EPC1_ENST00000375110.2_Missense_Mutation_p.I39M|EPC1_ENST00000263062.8_Missense_Mutation_p.I89M	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	89					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CCCCAGGATATATAGACTCAT	0.378000													5	64					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169185	60169185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:60169185G>A	ENST00000261187.4	+	4	1273	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	SLC16A7_ENST00000552432.1_Missense_Mutation_p.R370K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R271K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R370K|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R370K	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	370						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.R370I(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GGTGCACCAAGATTTTCCAGT	0.458000													3	62					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609683	84609683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:84609683C>T	ENST00000344803.2	+	4	4345	c.4298C>T	c.(4297-4299)tCc>tTc	p.S1433F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GAGCCCCTTTCCTTCCCAGTG	0.547000													3	44					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224437	39224437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39224437C>T	ENST00000333039.2	-	2	828	c.705G>A	c.(703-705)atG>atA	p.M235I		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	235						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CCAGCTGGTCCATCTTGGAGT	0.647000													5	27					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804462	27804462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27804462C>T	ENST00000408964.2	+	1	5074	c.5023C>T	c.(5023-5025)Cag>Tag	p.Q1675*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1675	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCCCAGAGGAGCCA	0.572000													17	274					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:40958352G>A	ENST00000313164.9	+	11	1837	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000													4	49					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134993770	134993770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:134993770G>A	ENST00000535938.1	+	18	2346	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	SAGE1_ENST00000370709.3_Missense_Mutation_p.E727K|SAGE1_ENST00000537770.1_Missense_Mutation_p.E351K|SAGE1_ENST00000324447.3_Missense_Mutation_p.E727K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	727								p.E727*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGGAGGAGGAGATGGAAAA	0.428000													10	77					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642784	156642784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156642784G>A	ENST00000368223.3	-	4	1328	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	399	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCTACAGCAGGAGAGGGTGC	0.612000													17	222					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060859	9060859	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9060859T>C	ENST00000397910.4	-	3	26790	c.26587A>G	c.(26587-26589)Acc>Gcc	p.T8863A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8865	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						GAAGGTGAGGTTACTGCAGAT	0.512000													6	93					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169587	27169587	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:27169587A>T	ENST00000380036.4	+	4	1030	c.588A>T	c.(586-588)ggA>ggT	p.G196G	TEK_ENST00000406359.4_Silent_p.G196G|TEK_ENST00000519097.1_Silent_p.G92G	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	196					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATATAGGAGGAAACCTCTTCA	0.498000													12	76					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84744883	84744883	+	Missense_Mutation	SNP	G	G	A	rs117241349		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:84744883G>A	ENST00000372142.2	+	11	1296	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	NRG3_ENST00000404547.1_Missense_Mutation_p.R562Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R188Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R342Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R538Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R368Q|NRG3_ENST00000537893.1_Missense_Mutation_p.R188Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	562					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R538Q(1)|p.R341Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAAACCCAACGAAATACATCA	0.408000													23	155					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185662	8185662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185662G>A	ENST00000520004.1	-	5	2894	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	SGK223_ENST00000330777.4_Missense_Mutation_p.S877F			Q86YV5	SG223_HUMAN		877							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAGAGGATCGGAAGAGGAGAA	0.602000													27	359					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128671	103128671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103128671C>T	ENST00000295269.4	+	7	1955	c.1498C>T	c.(1498-1500)Cac>Tac	p.H500Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	500					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCTGATGGATCACTTAAAGGC	0.443000													8	136					0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75401244	75401244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75401244C>T	ENST00000394905.2	-	3	408	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	CCL26_ENST00000005180.4_Missense_Mutation_p.E51K	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	51					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						CTGGTGAATTCATAGCTTCGC	0.547000													8	133					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841761	100841761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:100841761G>A	ENST00000369208.3	-	11	1954	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIM1_ENST00000262901.4_Missense_Mutation_p.S391L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	391	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGAAATCCCGAATACTGAAA	0.463000													6	47					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879080	76879080	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:76879080T>C	ENST00000356260.5	-	18	1616	c.1498A>G	c.(1498-1500)Acc>Gcc	p.T500A	SDAD1_ENST00000395711.4_Missense_Mutation_p.T463A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	500					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)			CTGAGACTGGTACTTTCCCAT	0.408000													18	166					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114168236	114168236	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114168236T>A	ENST00000393081.1	+	6	796	c.489T>A	c.(487-489)taT>taA	p.Y163*	RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000354273.4_Nonsense_Mutation_p.Y163*|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000479936.1_3'UTR|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000433418.1_Nonsense_Mutation_p.Y163*|ACSL5_ENST00000356116.1_Nonsense_Mutation_p.Y219*|ACSL5_ENST00000354655.4_Nonsense_Mutation_p.Y163*	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	163					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TACCTCTGTATGACACCTTGG	0.418000													19	134					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077592	32077592	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:32077592C>T	ENST00000354689.6	+	0	207				RP11-1166P10.6_ENST00000566806.1_RNA																							GCCGATTCACCATCTCCAGGG	0.522000													19	750					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66294177	66294177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66294177G>A	ENST00000419755.3	+	13	1427	c.1349G>A	c.(1348-1350)aGt>aAt	p.S450N	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.S284N|BBS1_ENST00000455748.2_Missense_Mutation_p.S316N|BBS1_ENST00000318312.7_Missense_Mutation_p.S413N|BBS1_ENST00000529766.1_3'UTR																							GAGGGAGGAAGTGAGGTGGGT	0.572000													12	168					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566609	45566609	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:45566609C>T	ENST00000588982.1	-	3	1371	c.870G>A	c.(868-870)aaG>aaA	p.K290K	ZBTB7C_ENST00000586438.1_Silent_p.K290K|ZBTB7C_ENST00000332053.2_Silent_p.K290K|ZBTB7C_ENST00000590800.1_Silent_p.K290K|ZBTB7C_ENST00000535628.2_Silent_p.K290K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	290						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTCCTCCTCCTTGATCTTCC	0.622000													5	83					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014061	53014061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53014061G>A	ENST00000421239.2	+	6	671	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGACCGACATGATCAAAGGCA	0.393000													10	218					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836151	93836151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:93836151C>T	ENST00000315765.9	+	15	2655	c.2647C>T	c.(2647-2649)Cca>Tca	p.P883S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	883	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAATTGTATTCCATGGGTTTA	0.348000													5	59					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158371243	158371243	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:158371243C>A	ENST00000486715.1	+	7	1342	c.985C>A	c.(985-987)Ctc>Atc	p.L329I	GFM1_ENST00000478576.1_Missense_Mutation_p.L329I|GFM1_ENST00000264263.5_Missense_Mutation_p.L348I	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	329					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTATGCTATTCTCAATAAAGA	0.343000													6	42					2.0095e-06	2.02788e-06	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3081376	3081376	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:3081376C>T	ENST00000602557.1	-	29	4917	c.4362G>A	c.(4360-4362)ggG>ggA	p.G1454G	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.G1453G|CSMD1_ENST00000539096.1_Silent_p.G1453G|CSMD1_ENST00000520002.1_Silent_p.G1454G|CSMD1_ENST00000602723.1_Silent_p.G1454G|CSMD1_ENST00000542608.1_Silent_p.G1453G|CSMD1_ENST00000400186.3_Silent_p.G1454G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1454	CUB 9.					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)		CCGTCAGATTCCCTCCACAAG	0.502000													3	19					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47349880	47349880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:47349880C>T	ENST00000400314.1	+	12	1105	c.767C>T	c.(766-768)cCc>cTc	p.P256L	PCBP3_ENST00000400304.1_Missense_Mutation_p.P246L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000449640.1_Missense_Mutation_p.P256L|PCBP3_ENST00000400309.1_Missense_Mutation_p.P255L|PCBP3_ENST00000400310.1_Missense_Mutation_p.P256L|PCBP3_ENST00000400308.1_Missense_Mutation_p.P230L|PCBP3_ENST00000468429.1_3'UTR			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	256					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCTTTCCTCCCCTCGGACAG	0.542000													22	246					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11782265	11782265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11782265G>A	ENST00000356957.3	-	10	2125	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.P646L			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	673	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTTTTCAAGGGACTATAGAG	0.398000													5	63					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594178	123594178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123594178C>T	ENST00000340011.5	+	3	911	c.554C>T	c.(553-555)aCt>aTt	p.T185I	SPAM1_ENST00000402183.2_Missense_Mutation_p.T185I|SPAM1_ENST00000223028.7_Missense_Mutation_p.T185I|SPAM1_ENST00000439500.1_Missense_Mutation_p.T185I|SPAM1_ENST00000460182.1_Missense_Mutation_p.T185I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	185					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACAGAGGCCACTGAGAAAGCA	0.393000													4	38					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219008	130219008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:130219008G>A	ENST00000276211.5	+	7	1270	c.925G>A	c.(925-927)Gat>Aat	p.D309N	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D297N|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D173N	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	309	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGCCAGATGATCTGTACAT	0.488000													17	64					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584019	138584019	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:138584019T>A	ENST00000251691.4	+	12	1565	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	467					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGGCTGAGTGGAGCCGAGA	0.617000													3	18					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41006293	41006293	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:41006293C>T	ENST00000372699.3	+	3	302	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372697.3_Silent_p.F17F|ZNF684_ENST00000372696.3_Silent_p.F17F	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CTGTGGATTTCACTGCAGAGG	0.443000													12	140					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172199	95172199	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:95172199C>T	ENST00000027335.3	-	12	1675	c.1551_splice	c.e12+1	p.K517_splice	CDH17_ENST00000450165.2_Splice_Site_p.K517_splice|CDH17_ENST00000441892.2_Splice_Site_p.K303_splice	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	517	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGCTATTTACCTTTTTAATTA	0.383000													4	58					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38305122	38305122	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:38305122C>T	ENST00000443402.2	-	0	157					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					ATCCCAGAATCGTGTTGCTCT	0.418000													14	60					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50392941	50392941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:50392941C>T	ENST00000434422.1	-	10	1163	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RACGAP1_ENST00000312377.5_Missense_Mutation_p.D288N|RACGAP1_ENST00000547905.1_Missense_Mutation_p.D288N|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Missense_Mutation_p.D288N|RACGAP1_ENST00000427314.2_Missense_Mutation_p.D288N|RACGAP1_ENST00000551016.1_Missense_Mutation_p.D288N			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	288					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GAAACAAAGTCATGCAGGCGC	0.413000													11	59					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694117	84694117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84694117C>T	ENST00000286744.5	+	27	4809	c.4585C>T	c.(4585-4587)Cct>Tct	p.P1529S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1529S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1529	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCATGTGCCCCTAAAGACCG	0.522000													4	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049163	9049163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9049163G>A	ENST00000397910.4	-	5	32671	c.32468C>T	c.(32467-32469)tCa>tTa	p.S10823L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10825	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						CGTGACCAATGAAACTGTTGT	0.483000													13	107					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298434	107298434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107298434C>T	ENST00000374781.2	-	1	703	c.661G>A	c.(661-663)Gat>Aat	p.D221N		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGGGATATATCAGCACAGGCC	0.393000													6	111					0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95142075	95142075	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:95142075T>G	ENST00000375587.3	+	5	1013	c.498T>G	c.(496-498)ttT>ttG	p.F166L		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	166					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TGTTCATGTTTTTCCGAAGCC	0.318000													5	69					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430875	37430875	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37430875C>T	ENST00000374660.1	+	7	981	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ANKRD30A_ENST00000361713.1_Silent_p.F294F|ANKRD30A_ENST00000602533.1_Silent_p.F294F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGGAAAGTTCGAACAGTCAG	0.443000													5	36					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497751	95497751	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95497751C>T	ENST00000432432.2	-	0	1092					NR_040113.1																						ACGGTTCTCACCTTCTCCTTG	0.488000													6	147					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168519	171168519	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171168519C>T	ENST00000441535.1	+	5	636	c.519C>T	c.(517-519)agC>agT	p.S173S	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Silent_p.S173S	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	173					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTCCATAGCCGCCAATACA	0.443000													12	65					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180714	142180714	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142180714C>T	ENST00000390368.2	-	0	210																											GACATGTATTCATGGTTCATA	0.517000													15	526					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425118	113425118	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113425118G>A	ENST00000449768.2	+	2	580	c.453G>A	c.(451-453)aaG>aaA	p.K151K	OAS2_ENST00000392583.2_Intron|OAS2_ENST00000342315.4_Intron|RP1-71H24.1_ENST00000552784.1_RNA	NM_001032731.1	NP_001027903.1	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	491	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCTGAGTAAGCATTGCTGGG	0.507000													3	45					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543502	4543502	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4543502T>A	ENST00000228837.2	-	3	549	c.506A>T	c.(505-507)aAt>aTt	p.N169I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	169					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCGTAGGCATTGTAATTGTT	0.512000													16	186					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	409160	409160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:409160G>A	ENST00000280886.6	-	21	2656	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Nonsense_Mutation_p.Q178*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	857						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCATCCACTGGAAACTGTCC	0.597000													5	83					0	0	1	0	0
TACO1	51204	broad.mit.edu	37	17	61685284	61685284	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61685284C>T	ENST00000258975.6	+	5	1028	c.816C>T	c.(814-816)gaC>gaT	p.D272D		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	272					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						CTGAGCCCGACCTGGAACAGG	0.547000													7	99					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390569	8390569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:8390569C>T	ENST00000471889.1	+	5	1401	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.S373L|SLC45A1_ENST00000289877.8_Missense_Mutation_p.S339L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	339					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCATCTCGCCGCCCAGC	0.692000													11	44					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99410789	99410789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:99410789C>T	ENST00000370631.3	+	2	584	c.527C>T	c.(526-528)cCt>cTt	p.P176L	PI4K2A_ENST00000555577.1_Missense_Mutation_p.P146L|PI4K2A_ENST00000370649.3_Missense_Mutation_p.P146L	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	176	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CTGTGCTGTCCTTGCTGCTTT	0.512000													7	51					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550627	8550627	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8550627C>T	ENST00000348943.3	+	15	1430	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	HNRNPM_ENST00000325495.4_Silent_p.L439L	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	439	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCGCATGGGCCTGGTCATGGA	0.701000													11	136					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785599	12785599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12785599C>T	ENST00000332530.3	+	3	705	c.479C>T	c.(478-480)cCa>cTa	p.P160L	AADACL3_ENST00000359318.5_Missense_Mutation_p.P230L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	230							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTGGGCCCAGAAAACATC	0.483000													6	90					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356177	10356177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10356177C>T	ENST00000255381.2	-	25	3294	c.3184G>A	c.(3184-3186)Gac>Aac	p.D1062N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1062					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATTTTAGGTCACCCTCCAGT	0.338000													12	98					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42280266	42280266	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:42280266C>T	ENST00000399518.3	-	16	2298	c.1812G>A	c.(1810-1812)agG>agA	p.R604R	PLA2G4E_ENST00000413860.2_Silent_p.R575R|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	592	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCACTTTCTCCCTTGTCCACC	0.622000													6	25					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758013	141758013	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141758013G>T	ENST00000475668.2	+	31	3758	c.3704G>T	c.(3703-3705)cGg>cTg	p.R1235L	MGAM_ENST00000549489.2_Missense_Mutation_p.R1235L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1235	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATTGGCCGGCCTGTGATG	0.438000													43	282					2.27459e-33	2.30873e-33	1	1	0
ARNT	405	broad.mit.edu	37	1	150795738	150795738	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150795738G>A	ENST00000358595.5	-	14	1526	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	ARNT_ENST00000505755.1_Silent_p.S427S|ARNT_ENST00000354396.2_Silent_p.S442S|ARNT_ENST00000515192.1_Silent_p.S428S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	442	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTAAAGGAGCTGGTTCTCA	0.403000			T	ETV6	AML								17	93					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520420	110520420	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110520420G>A	ENST00000378402.5	+	70	11426	c.11322G>A	c.(11320-11322)ctG>ctA	p.L3774L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3774					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)			TTGAAAGTCTGGATCCTGACA	0.393000										HNSCC(38;0.096)			14	118					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662503	113662503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113662503G>A	ENST00000297405.5	-	19	3324	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S987F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S923F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1027F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1027	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						AGAGCCAATGGAGAAATCATG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	160					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60744152	60744152	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:60744152C>T	ENST00000303375.5	+	5	1296	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	298	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCTGTGGATCGGCTTGAATG	0.642000													9	50					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544307	82544307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82544307G>A	ENST00000423517.2	-	7	13332	c.12995C>T	c.(12994-12996)tCa>tTa	p.S4332L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4332L|PCLO_ENST00000437081.1_Missense_Mutation_p.S1052L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4263					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						GGCAGAGGATGATGCATGACT	0.423000													4	39					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465073	5465073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:5465073C>T	ENST00000296564.7	+	13	5848	c.5626C>T	c.(5626-5628)Cct>Tct	p.P1876S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1876										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGGAACCTCCCTCCAGCTGA	0.502000													5	20					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5929972	5929972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:5929972C>T	ENST00000380094.5	-	2	916	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ANKRD16_ENST00000380092.4_Missense_Mutation_p.E125K|ANKRD16_ENST00000191063.8_Missense_Mutation_p.E125K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	125										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCGCCATGTTCCACCAGCTCC	0.557000													17	142					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414812	21414812	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:21414812G>A	ENST00000534331.1	-	2	458	c.408C>T	c.(406-408)ttC>ttT	p.F136F	C10orf113_ENST00000377118.4_Silent_p.F126F|C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	136										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTATGCCCTGGAATTTAAATC	0.433000													11	126					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113902	94113902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:94113902G>A	ENST00000243673.2	-	4	856	c.685C>T	c.(685-687)Cct>Tct	p.P229S	GPR83_ENST00000539203.2_Missense_Mutation_p.P187S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	229						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGGCTCAGGGAAGTCTGGC	0.572000													6	78					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681549	3681549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:3681549G>A	ENST00000250693.1	+	3	901	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	267					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ATCTACCTCCGAGCCCTGGGC	0.607000													15	124					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914303	117914303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:117914303G>A	ENST00000425217.1	-	17	2515	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.P850S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	850	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGAGAAGGGGAGCTTATCC	0.602000													4	12					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18234054	18234054	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18234054C>A	ENST00000262811.5	+	6	340	c.340C>A	c.(340-342)Cac>Aac	p.H114N		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	114							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGAACGTCTCCACCAGCTTCC	0.617000													7	86					0.00448238	0.00450278	1	1	0
MUC16	94025	broad.mit.edu	37	19	9077304	9077304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9077304G>A	ENST00000397910.4	-	3	10345	c.10142C>T	c.(10141-10143)tCa>tTa	p.S3381L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3382	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						ATCTGTCAATGAGCTCACAGA	0.473000													14	184					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306472	3306472	+	Missense_Mutation	SNP	C	C	G	rs141288548		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3306472C>G	ENST00000219596.1	-	1	155	c.116G>C	c.(115-117)aGg>aCg	p.R39T	MEFV_ENST00000541159.1_Missense_Mutation_p.R39T|MEFV_ENST00000339854.4_Missense_Mutation_p.R39T|MEFV_ENST00000536379.1_Missense_Mutation_p.R39T	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	39	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCGGGGGATCCTGGAGTGCTC	0.587000													8	132					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388791	128388791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:128388791C>T	ENST00000368227.3	-	12	2396	c.2030G>A	c.(2029-2031)gGa>gAa	p.G677E	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.G677E|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.G677E|PTPRK_ENST00000368207.3_Missense_Mutation_p.G677E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G677E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G677E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G677E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	677	Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGTAGGTTTCCCGGGGGGAG	0.542000													6	75					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771862	72771862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72771862G>A	ENST00000261180.4	+	3	1237	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	381					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGAATTTTATGAAGACTACTT	0.343000													8	86					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008832	11008832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11008832G>A	ENST00000377004.4	-	12	1359	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S	C1orf127_ENST00000377008.4_Missense_Mutation_p.P287S	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	305										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACCACTCTGGGGAGAATGGAG	0.607000													13	158					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112327826	112327826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:112327826C>T	ENST00000389063.2	+	3	412	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.H72Y	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACTCTTCAGTCATTGTCCGTT	0.333000													9	132					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242312590	242312590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242312590C>T	ENST00000264042.3	+	2	238	c.68C>T	c.(67-69)cCt>cTt	p.P23L	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.P23L|FARP2_ENST00000545004.1_Missense_Mutation_p.P23L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	23					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCCCAGACCCCTGTGGGAGTT	0.522000													8	63					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936114	30936114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:30936114G>A	ENST00000355537.3	+	2	1792	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCAACCACGAAGACACTTT	0.552000													9	156					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635244	179635244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179635244C>T	ENST00000589042.1	-	35	8499	c.8275G>A	c.(8275-8277)Gga>Aga	p.G2759R	TTN_ENST00000591111.1_Missense_Mutation_p.G2759R|TTN_ENST00000360870.5_Missense_Mutation_p.G2759R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2713R|TTN_ENST00000342175.6_Missense_Mutation_p.G2713R|TTN_ENST00000359218.5_Missense_Mutation_p.G2713R|TTN_ENST00000342992.6_Missense_Mutation_p.G2759R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2497							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)			TAAATTGTTCCTTTGACAGAG	0.448000													3	88					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738661	72738661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:72738661G>A	ENST00000333149.2	-	2	325	c.125C>T	c.(124-126)tCc>tTc	p.S42F	TRIM50_ENST00000453152.1_Missense_Mutation_p.S42F|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	42						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCAGGACAGGGAAACCAGGCA	0.657000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113316994	113316994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113316994G>A	ENST00000297405.5	-	52	8466	c.8222C>T	c.(8221-8223)cCt>cTt	p.P2741L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2701L|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2671L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2741	Sushi 16.					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						AGTACCATTAGGAAGACATTC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	81					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184033942	184033942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:184033942C>T	ENST00000342981.4	+	3	497	c.83C>T	c.(82-84)aCa>aTa	p.T28I	EIF4G1_ENST00000319274.6_Missense_Mutation_p.T28I|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.T28I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.T28I|EIF4G1_ENST00000414031.1_5'UTR|EIF4G1_ENST00000352767.3_Missense_Mutation_p.T28I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.T28I|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000350481.5_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	28					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGGGCAGACAGCGCCGGTG	0.632000													4	76					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55423579	55423579	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55423579C>T	ENST00000594765.1	+	6	748	c.723C>T	c.(721-723)ctC>ctT	p.L241L	NCR1_ENST00000338835.5_Intron|NCR1_ENST00000291890.4_Silent_p.L242L|NCR1_ENST00000350790.5_Silent_p.L147L|NCR1_ENST00000447255.1_Silent_p.L241L|NCR1_ENST00000357397.5_Silent_p.L135L|NCR1_ENST00000598576.1_Silent_p.L229L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	242					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGACGGGACTCCAGAAAGGTA	0.517000													24	136					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976132	4976132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4976132G>A	ENST00000380371.1	-	1	811	c.812C>T	c.(811-813)cCc>cTc	p.P271L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTAATGAGGGGAGAGACATG	0.443000													15	99					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891746	6891746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6891746C>T	ENST00000307322.4	+	1	823	c.761C>T	c.(760-762)tCa>tTa	p.S254L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAAATAATTCACCTGAGGGC	0.413000													16	205					0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46956287	46956287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:46956287C>T	ENST00000440783.2	+	9	1536	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	GPT2_ENST00000340124.4_Missense_Mutation_p.P391S	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	391					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)	TGTCGTGAACCCCCCGGTGGC	0.637000													7	147					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836819	23836819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:23836819G>A	ENST00000359788.4	-	4	1084	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	306					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCCAGTATGAATTTTTTTA	0.368000													6	67					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976650	38976650	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38976650G>A	ENST00000359357.3	+	87	12878	c.12624G>A	c.(12622-12624)gaG>gaA	p.E4208E	DNAH8_ENST00000441566.1_Silent_p.E4172E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCCAAAGAGAGTGGAGGTG	0.418000													14	163					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97599471	97599471	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97599471T>C	ENST00000371207.3	+	3	267	c.204T>C	c.(202-204)ggT>ggC	p.G68G	ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.G63G|ENTPD1_ENST00000371205.4_Silent_p.G56G|ENTPD1_ENST00000543964.1_5'UTR|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	56					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGATGCGGGTTCTTCTCACA	0.423000													7	140					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373066	24373066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24373066G>A	ENST00000005284.3	+	4	2032	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	277					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCACCATGGGGACCCTCCTC	0.547000													9	128					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000424	219000424	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219000424G>A	ENST00000318507.2	+	3	1327	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	300					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATGCCACCGAGATTCTGGGCA	0.567000													9	83					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148744081	148744081	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:148744081G>A	ENST00000336498.3	+	3	524	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	95	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		ATTTTTTGAAGAATCTGGAGG	0.363000													4	44					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201263115	201263115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:201263115C>T	ENST00000263946.3	+	2	499	c.248C>T	c.(247-249)aCc>aTc	p.T83I	PKP1_ENST00000352845.3_Missense_Mutation_p.T83I|PKP1_ENST00000367324.3_Missense_Mutation_p.T83I	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	83					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TATGGGACCACCAGCAGGAGC	0.512000													3	39					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699473	52699473	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52699473C>T	ENST00000293525.5	+	6	979	c.927C>T	c.(925-927)atC>atT	p.I309I	KRT86_ENST00000544024.1_Silent_p.I309I|KRT86_ENST00000423955.2_Silent_p.I309I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	309	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACGGTGATCAGGCACGGGG	0.587000													6	71					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38962605	38962605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38962605G>A	ENST00000450244.1	-	6	1052	c.854C>T	c.(853-855)tCg>tTg	p.S285L	SCN11A_ENST00000456224.3_Missense_Mutation_p.S285L|SCN11A_ENST00000444237.2_Missense_Mutation_p.S285L|SCN11A_ENST00000302328.3_Missense_Mutation_p.S285L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	285					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACAGTCCCTCGAGATGCATTT	0.438000													16	218					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37331556	37331556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37331556G>A	ENST00000394303.3	-	14	1894	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	563					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCCCGGTTCCGGTTGTCGGTC	0.657000											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	271					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173531	126173531	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126173531G>A	ENST00000339582.2	-	9	2713	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	GRM8_ENST00000444921.2_Silent_p.I635I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.I635I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	635					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTAAAAACGTGATTGAATAAC	0.468000										HNSCC(24;0.065)			4	45					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442366	74442366	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:74442366G>A	ENST00000307439.5	-	9	1098	c.804C>T	c.(802-804)ttC>ttT	p.F268F	RASSF6_ENST00000342081.3_Silent_p.F300F|RASSF6_ENST00000335049.5_Silent_p.F256F|RASSF6_ENST00000395777.2_Silent_p.F234F	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	300	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TATCCATGAGGAAAATGCGAG	0.428000													9	158					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647890	7647890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7647890C>T	ENST00000359156.4	-	6	1409	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R	CD163_ENST00000432237.2_Missense_Mutation_p.G403R|CD163_ENST00000396620.3_Missense_Mutation_p.G403R|CD163_ENST00000541972.1_Missense_Mutation_p.G391R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	403	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G403*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTTTCAGTCCCCAGCCTCTG	0.502000													10	91					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75693679	75693679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75693679C>T	ENST00000315758.5	+	7	750	c.656C>T	c.(655-657)cCc>cTc	p.P219L	MDH2_ENST00000443006.1_Missense_Mutation_p.P112L|MDH2_ENST00000432020.2_Missense_Mutation_p.P177L	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	219					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GTGGACTTTCCCCAGGACCAG	0.647000													4	40					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585181	158585181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158585181C>T	ENST00000368148.3	-	48	6793	c.6613G>A	c.(6613-6615)Gag>Aag	p.E2205K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2202K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2205					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTGGATCTCCTTCTGTTTT	0.458000													4	103					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547539	125547539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:125547539G>A	ENST00000431078.1	+	18	3174	c.2810G>A	c.(2809-2811)gGa>gAa	p.G937E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	937	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTTGAATGGACAGAAAATG	0.507000													12	84					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52226376	52226376	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52226376C>T	ENST00000371710.3	+	10	833	c.651C>T	c.(649-651)ccC>ccT	p.P217P	OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000371714.1_Silent_p.P186P|OSBPL9_ENST00000486942.1_Silent_p.P21P|OSBPL9_ENST00000337809.4_Silent_p.P204P|OSBPL9_ENST00000462759.1_Silent_p.P21P|OSBPL9_ENST00000361556.5_Silent_p.P89P|OSBPL9_ENST00000435686.2_Silent_p.P34P|OSBPL9_ENST00000530544.1_Silent_p.P118P|OSBPL9_ENST00000447887.1_Silent_p.P209P|OSBPL9_ENST00000453295.1_Silent_p.P182P|OSBPL9_ENST00000531828.1_Silent_p.P34P|OSBPL9_ENST00000428468.1_Silent_p.P199P	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	199					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTATTAATCCCGTAGATGCAA	0.368000													8	82					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437383	110437383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110437383C>T	ENST00000378402.5	+	24	2871	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	923			H -> R (in dbSNP:rs4735133).		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)			GTCAAAAATTCATATTCAAAG	0.318000										HNSCC(38;0.096)			3	29					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96731069	96731069	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:96731069C>T	ENST00000216629.6	+	3	1656	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	350					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCAACTTTTCTGGCGGAATT	0.388000													19	128					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324273	7324273	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7324273T>A	ENST00000318881.6	+	2	386	c.149T>A	c.(148-150)aTc>aAc	p.I50N	SYT9_ENST00000396716.2_Missense_Mutation_p.I18N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	50						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTGCAGATATCTCAGTGAGC	0.542000													5	105					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438189	23438189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:23438189G>A	ENST00000248996.4	+	2	973	c.307G>A	c.(307-309)Gac>Aac	p.D103N	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	103						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGCGCCTACGACGCTGTGCA	0.662000													20	173					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73719404	73719404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:73719404C>T	ENST00000427855.1	+	11	1117	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	PAPLN_ENST00000381166.3_Missense_Mutation_p.P339S|PAPLN_ENST00000554301.1_Missense_Mutation_p.P339S|PAPLN_ENST00000340738.5_Missense_Mutation_p.P312S|PAPLN_ENST00000555445.1_Missense_Mutation_p.P339S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	339	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGAGGCCTACCCCGACCACAT	0.657000													9	168					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367195	107367195	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107367195G>A	ENST00000542196.1	-	1	756	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACAGGTAGAGGAAGCTTTGC	0.403000													7	45					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23519086	23519086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23519086G>A	ENST00000397359.3	-	10	1803	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.P477L|CDH24_ENST00000267383.5_Missense_Mutation_p.P515L|CDH24_ENST00000554034.1_Missense_Mutation_p.P477L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	515	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCAGCTGGGGAGCATTGTC	0.582000													6	71					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826651	34826651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:34826651C>T	ENST00000192788.5	+	14	2689	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R840C	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	840										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGCTCTGCTTCGCCTGAAGGA	0.537000													15	165					0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63920636	63920636	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:63920636G>T	ENST00000371092.3	-	6	435	c.375C>A	c.(373-375)ttC>ttA	p.F125L	ITGB3BP_ENST00000271002.10_Missense_Mutation_p.F86L|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.F86L|ITGB3BP_ENST00000461681.1_5'UTR	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	86					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GCAACATCATGAATCTAGTAA	0.308000													3	24					0.184627	0.184936	1	1	0
ESRRB	2103	broad.mit.edu	37	14	76906017	76906017	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:76906017G>A	ENST00000380887.2	+	2	393	c.321G>A	c.(319-321)ggG>ggA	p.G107G	ESRRB_ENST00000556177.1_Silent_p.G107G|ESRRB_ENST00000261532.7_Silent_p.G107G|ESRRB_ENST00000509242.1_Silent_p.G107G|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCGTGTGCGGGGACATTGCCT	0.617000													9	46					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696990	111696990	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:111696990A>T	ENST00000435970.1	-	15	3150	c.2334T>A	c.(2332-2334)aaT>aaA	p.N778K	REV3L_ENST00000368805.1_Missense_Mutation_p.N856K|REV3L_ENST00000368802.3_Missense_Mutation_p.N856K|REV3L_ENST00000358835.3_Missense_Mutation_p.N856K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	856					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTATAAAATTATCTTTTG	0.348000								DNA polymerases (catalytic subunits)					3	53					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475961	140475961	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140475961C>T	ENST00000194155.4	+	1	1735	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.701000													11	97					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451758	29451758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29451758C>T	ENST00000389048.3	-	16	3713	c.2807G>A	c.(2806-2808)gGa>gAa	p.G936E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	936	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACCTATATATCCTCCGCCTCC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	115					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618311	158618311	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158618311G>A	ENST00000368148.3	-	26	3882	c.3702C>T	c.(3700-3702)ccC>ccT	p.P1234P	SPTA1_ENST00000368147.3_Silent_p.P1234P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1234					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TATCTCCCAGGGGTACGAGGT	0.493000													5	53					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538384	1538384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1538384C>T	ENST00000263071.4	-	11	2210	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	SCARF1_ENST00000348987.3_Missense_Mutation_p.E635K|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	721	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTTGGCTTCCGCCTGGCCT	0.632000													8	48					0	0	1	0	0
CD320	51293	broad.mit.edu	37	19	8367400	8367400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8367400C>T	ENST00000301458.5	-	5	860	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	CD320_ENST00000537716.2_Missense_Mutation_p.V224M	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	266					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TTCATGGCCACCAGTAACCCC	0.647000													9	115					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420028	8420028	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:8420028G>A	ENST00000337907.3	-	20	4048	c.3414C>T	c.(3412-3414)gaC>gaT	p.D1138D	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.D1138D|RERE_ENST00000476556.1_Silent_p.D584D|RERE_ENST00000377464.1_Silent_p.D870D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1138					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGTAGCCCCGGTCCAGGTGTT	0.617000													14	103					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23872633	23872633	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23872633C>T	ENST00000405093.3	-	10	892	c.822G>A	c.(820-822)gtG>gtA	p.V274V	MYH6_ENST00000356287.3_Silent_p.V274V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	274	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTGGAAGATCACCCGGGACT	0.567000													14	201					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169558057	169558057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169558057C>T	ENST00000316428.5	-	9	1429	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.D402N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	458										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TAGCTCAGGTCCAGCTTTTGC	0.483000													3	49					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672580	141672580	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141672580A>G	ENST00000547270.1	-	1	993	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	304					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)					GCTCTCCTCAACTTGGCATTG	0.542000													6	62					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346310	72346310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:72346310C>T	ENST00000299687.5	+	1	3335	c.3335C>T	c.(3334-3336)tCa>tTa	p.S1112L	ZNF407_ENST00000309902.6_Missense_Mutation_p.S1112L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1112L|ZNF407_ENST00000577538.1_Missense_Mutation_p.S1112L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAATAATTTCAGGTCAACCA	0.353000													3	18					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55682056	55682056	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55682056C>T	ENST00000344514.1	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTCCCAGTCCATTCTTCCTT	0.343000													5	54					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787121	121787121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:121787121C>T	ENST00000261367.7	+	12	4148	c.2720C>T	c.(2719-2721)cCt>cTt	p.P907L	SNCAIP_ENST00000379536.2_Missense_Mutation_p.P800L|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P907L|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P494L|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P462L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P860L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P418L|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	860					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGAAAAGGCCTTTTGGAGCC	0.468000													7	83					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:190067681C>T	ENST00000367462.3	-	8	1999	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	FAM5C_ENST00000534846.1_Missense_Mutation_p.E488K|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		590						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGCTGTTTTCATTCACAGGC	0.458000													10	275					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2596845	2596845	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2596845G>T	ENST00000358864.1	+	15	1950	c.1935G>T	c.(1933-1935)atG>atT	p.M645I	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	645						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCAAGGAATGATCTGGTGAG	0.443000													4	61					0.00198382	0.0019938	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89351792	89351792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:89351792C>T	ENST00000301030.4	-	9	1618	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.M386I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	386						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTTAACCTCCATTTTGGGTA	0.458000													5	88					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148017573	148017573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:148017573G>A	ENST00000369219.1	-	6	726	c.710C>T	c.(709-711)tCg>tTg	p.S237L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	237	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACTTGTACGAGGCCAACAT	0.478000													9	497					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90072360	90072360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:90072360C>T	ENST00000405460.2	+	61	12590	c.12494C>T	c.(12493-12495)cCc>cTc	p.P4165L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4165					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)		ATTGGGGAACCCTCAGCAAAA	0.393000													4	48					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347041	140347041	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140347041G>A	ENST00000289269.5	+	1	1222	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		230	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCGTGGATGGGGGCA	0.597000													8	82					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22475890	22475890	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22475890G>A	ENST00000390447.3	+	0	140																											AGCCTGTTGAGGGCAGTCATA	0.488000													4	17					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276920	152276920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276920C>T	ENST00000368799.1	-	3	10477	c.10442G>A	c.(10441-10443)gGa>gAa	p.G3481E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.562000									Ichthyosis				40	471					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435545	7435545	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:7435545G>A	ENST00000319098.4	-	1	1155	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	354	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TCTCTGGGGTGATTTTGGCCA	0.602000													8	218					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771361	143771361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143771361C>T	ENST00000408898.2	+	1	87	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTGGGATTTCCCATTGGCCC	0.488000													11	111					0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109763470	109763470	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:109763470A>T	ENST00000258052.3	+	5	735	c.376A>T	c.(376-378)Agt>Tgt	p.S126C		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	126					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GCTCCATCTAAGTGGCATGGT	0.577000													6	68					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080091	171080091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171080091G>A	ENST00000367755.4	+	6	891	c.780G>A	c.(778-780)atG>atA	p.M260I	FMO3_ENST00000392085.2_Missense_Mutation_p.M260I|FMO3_ENST00000538429.1_Missense_Mutation_p.M197I|FMO3_ENST00000542847.1_Missense_Mutation_p.M240I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	260					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGCAGATGAATGCAAGAT	0.438000													5	94					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222697	140222697	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140222697G>A	ENST00000531613.1	+	1	1791	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.V597V|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCAGTGGACGCCGACT	0.692000													7	110					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:138414689G>A	ENST00000409968.1	+	24	4512	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000													6	42					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46755772	46755772	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46755772C>T	ENST00000460241.1	-	9	2360	c.690G>A	c.(688-690)acG>acA	p.T230T	PRSS50_ENST00000315170.7_Silent_p.T230T			Q9UI38	TSP50_HUMAN	protease, serine, 50	230	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACACATAGTCCGTGCCAGGCA	0.607000													5	112					0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51733669	51733669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:51733669C>T	ENST00000293636.1	-	6	624	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	195	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AACTCCATCTCCACCAGCACA	0.612000													8	66					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707656	96707656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:96707656G>A	ENST00000542454.2	+	3	3998	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	BDKRB2_ENST00000306005.3_Missense_Mutation_p.V331M|BDKRB2_ENST00000554311.1_Missense_Mutation_p.V331M|BDKRB2_ENST00000539359.1_Missense_Mutation_p.V304M|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	331					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CAACCCACTGGTGTACGTGAT	0.572000													14	59					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873956	24873956	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:24873956G>A	ENST00000396432.2	-	26	5748	c.5262C>T	c.(5260-5262)tcC>tcT	p.S1754S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1753	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCTGTTTTTCGGATTCGCCTC	0.438000													8	93					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965868	43965868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43965868G>A	ENST00000244333.3	-	5	764	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	226						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GTCTTGTTGCGGAGGTCAGAG	0.597000													7	172					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43023883	43023883	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43023883G>A	ENST00000388752.3	-	4	880	c.456C>T	c.(454-456)atC>atT	p.I152I	MRPL2_ENST00000230413.5_Silent_p.I152I|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	152					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TTTCTGTGGCGATGATCCAGC	0.552000													12	161					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77211023	77211023	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:77211023C>T	ENST00000253506.5	+	5	2028	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	NFATC1_ENST00000397790.2_Silent_p.I81I|NFATC1_ENST00000587635.1_Silent_p.I553I|NFATC1_ENST00000329101.4_Silent_p.I540I|NFATC1_ENST00000318065.5_Silent_p.I540I|NFATC1_ENST00000591814.1_Silent_p.I553I|NFATC1_ENST00000586434.1_Silent_p.I540I|NFATC1_ENST00000545796.1_Silent_p.I81I|NFATC1_ENST00000592223.1_Silent_p.I540I|NFATC1_ENST00000542384.1_Silent_p.I553I|NFATC1_ENST00000427363.2_Silent_p.I553I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	553	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGACGGACATCGGGAGGAAGA	0.567000													10	191					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785598	12785598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12785598C>T	ENST00000332530.3	+	3	704	c.478C>T	c.(478-480)Cca>Tca	p.P160S	AADACL3_ENST00000359318.5_Missense_Mutation_p.P230S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	230							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTGGGCCCAGAAAACAT	0.483000													6	86					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714957	55714957	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55714957T>C	ENST00000379668.2	+	1	612	c.574T>C	c.(574-576)Ttc>Ctc	p.F192L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGACACAAAATTCTTAGAGGT	0.338000													5	43					0	0	1	0	0
GNG10	2790	broad.mit.edu	37	9	114429186	114429186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:114429186C>T	ENST00000374293.4	+	2	473	c.173C>T	c.(172-174)cCc>cTc	p.P58L	DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.P143L|DNAJC25_ENST00000556107.1_Missense_Mutation_p.P143L	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1			guanine nucleotide binding protein (G protein), gamma 10											kidney(1)	1						GGAAGTAACCCCTTCCGGGAG	0.512000													15	32					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19051629	19051629	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19051629T>C	ENST00000421369.3	+	9	1426	c.868T>C	c.(868-870)Ttt>Ctt	p.F290L	TMC7_ENST00000304381.5_Missense_Mutation_p.F400L|TMC7_ENST00000569532.1_Missense_Mutation_p.F400L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	400						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAAGATGGTTTTTGGAGAGAA	0.383000													13	86					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541876	187541876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187541876G>A	ENST00000441802.2	-	10	6073	c.5864C>T	c.(5863-5865)tCc>tTc	p.S1955F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1955	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGCCATCGGAAGCTCTAAC	0.453000										HNSCC(5;0.00058)			4	72					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122623075	122623075	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:122623075C>T	ENST00000319080.6	+	14	2493	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	MLXIP_ENST00000538698.1_Silent_p.I394I			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	787	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGAGGAGATCGAGGAGCTCA	0.632000													6	23					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370525	126370525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126370525C>T	ENST00000394329.3	+	9	8367	c.8354C>T	c.(8353-8355)tCc>tTc	p.S2785F	FAT4_ENST00000335110.5_Missense_Mutation_p.S1083F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2785	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTGAAAATTCCCCCTTAGGA	0.363000													8	121					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489752	50489752	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50489752C>T	ENST00000267842.5	+	2	766	c.534C>T	c.(532-534)tcC>tcT	p.S178S	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Silent_p.S178S	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	178					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGATGTGTCCATCTATTATG	0.368000													7	77					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28465727	28465727	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28465727C>A	ENST00000261609.7	-	37	5824	c.5716G>T	c.(5716-5718)Gtc>Ttc	p.V1906F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1906	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCCACTGGACTCTTATCCAT	0.582000													16	150					3.99206e-14	4.04805e-14	1	1	0
SH3D19	152503	broad.mit.edu	37	4	152096067	152096067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:152096067G>A	ENST00000409598.4	-	7	1616	c.449C>T	c.(448-450)tCc>tTc	p.S150F	SH3D19_ENST00000424281.1_Missense_Mutation_p.S150F|SH3D19_ENST00000409252.2_Missense_Mutation_p.S150F|SH3D19_ENST00000455740.1_Missense_Mutation_p.S150F|SH3D19_ENST00000427414.2_Missense_Mutation_p.S150F|SH3D19_ENST00000514152.1_Missense_Mutation_p.S150F|SH3D19_ENST00000304527.4_Missense_Mutation_p.S150F			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	150	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTTTTCTGAGGAAACAGATTT	0.562000													11	185					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141337075	141337075	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:141337075C>T	ENST00000231484.3	-	1	1552	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	114	Cadherin 1.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCAAATCCCCTGTGGCAA	0.577000													7	144					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723370	196723370	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196723370T>A	ENST00000312428.6	-	43	7995	c.7895A>T	c.(7894-7896)aAa>aTa	p.K2632I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2632	Stalk (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						TACAGACTCTTTCTCAATCAT	0.388000													7	42					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71953006	71953006	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:71953006C>T	ENST00000355327.3	+	8	1424	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	THSD4_ENST00000261862.6_Silent_p.V430V|THSD4_ENST00000357769.4_Silent_p.V70V|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	430						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCACCGCGTCGTGGAGATTC	0.532000													8	103					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560431	1560431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1560431G>A	ENST00000357210.4	+	6	977	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	MIB2_ENST00000378712.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	254	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657000													19	117					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161771215	161771215	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161771215C>T	ENST00000366898.1	-	12	1416	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q	PARK2_ENST00000338468.3_Silent_p.Q247Q|PARK2_ENST00000366894.1_Silent_p.Q247Q|PARK2_ENST00000366897.1_Silent_p.Q410Q|PARK2_ENST00000366896.1_Silent_p.Q289Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	438					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGCACTGGGGCTGCGGACACT	0.617000													6	34					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169487738	169487738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:169487738G>A	ENST00000367796.3	-	23	6473	c.6272C>T	c.(6271-6273)tCg>tTg	p.S2091L	F5_ENST00000367797.3_Missense_Mutation_p.S2086L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2086	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S2086L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTAAACGAAGAAGCTGT	0.448000													3	23					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520680	33520680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33520680G>A	ENST00000297307.5	-	1	732	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	216						integral to membrane											GAGGCAGGGGGGAAAGTGCAG	0.642000													9	100					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882774	42882774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42882774G>A	ENST00000426548.1	-	3	681	c.412C>T	c.(412-414)Cct>Tct	p.P138S	GJC1_ENST00000590758.1_Missense_Mutation_p.P138S|GJC1_ENST00000330514.4_Missense_Mutation_p.P138S|GJC1_ENST00000592524.1_Missense_Mutation_p.P138S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	138					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TACATCATAGGATCCTCTTCG	0.507000													13	126					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259218	89259218	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:89259218A>G	ENST00000336596.2	+	3	587	c.362A>G	c.(361-363)aAc>aGc	p.N121S	EPHA3_ENST00000494014.1_Missense_Mutation_p.N121S|EPHA3_ENST00000452448.2_Missense_Mutation_p.N121S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	121						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)		GAGACATTCAACCTGTACTAC	0.423000										TSP Lung(6;0.00050)			13	154					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24416695	24416695	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24416695T>C	ENST00000378386.3	+	7	883	c.790T>C	c.(790-792)Ttg>Ctg	p.L264L	MRS2_ENST00000443868.2_Silent_p.L267L|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Silent_p.L264L|MRS2_ENST00000535061.1_Silent_p.L214L|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	264					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGAGGAAGAGTTGCTAGAAGA	0.303000													17	161					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40434009	40434009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40434009G>A	ENST00000221347.6	-	2	267	c.260C>T	c.(259-261)tCg>tTg	p.S87L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	87	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACCATGACCGACTCCCCGGG	0.557000													29	144					0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9922061	9922061	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9922061G>A	ENST00000247977.4	-	3	733	c.492C>T	c.(490-492)ttC>ttT	p.F164F	FBXL12_ENST00000585379.1_Silent_p.F111F|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.F111F|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	164							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCTCGTCACGGAAGGCGGGGA	0.672000													8	60					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085343	153085343	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153085343G>A	ENST00000285900.5	+	11	1882	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	GRIA1_ENST00000518783.1_Silent_p.G523G|GRIA1_ENST00000448073.4_Silent_p.G523G|GRIA1_ENST00000518142.1_Silent_p.G433G|GRIA1_ENST00000521843.2_Silent_p.G444G|GRIA1_ENST00000340592.5_Silent_p.G513G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	513					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAGTTTGGGGATCTCCATCA	0.408000													5	70					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873196	13873196	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:13873196C>T	ENST00000586600.1	+	10	1160	c.657C>T	c.(655-657)ccC>ccT	p.P219P	CCDC130_ENST00000221554.8_Silent_p.P219P|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	219					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CGCTGGTGCCCGAGACGGAAG	0.612000													5	57					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63918323	63918323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:63918323G>A	ENST00000443617.2	-	71	13223	c.13136C>T	c.(13135-13137)cCt>cTt	p.P4379L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4379					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACTGTGTCAGGCAGGCCCAG	0.527000													5	30					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250192	177250192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:177250192G>A	ENST00000361539.4	+	8	2192	c.1880G>A	c.(1879-1881)tGg>tAg	p.W627*	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		627						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCCAAAACTGGACTATCACC	0.522000													6	70					0	0	1	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987007	89987007	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:89987007C>T	ENST00000491977.1	+	0	318																											GGACAGATTTCACACTGAAAA	0.512000													11	161					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225599	61225599	+	Missense_Mutation	SNP	C	C	G	rs144275600		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61225599C>G	ENST00000382768.1	+	2	183	c.183C>G	c.(181-183)aaC>aaG	p.N61K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.N61K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	61					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TACACTTCAACGAATTTTCCC	0.413000													12	82					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152201885	152201885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152201885G>A	ENST00000440973.1	+	5	1109	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ESR1_ENST00000544394.1_Missense_Mutation_p.E74K|ESR1_ENST00000206249.3_Missense_Mutation_p.E247K|ESR1_ENST00000338799.5_Missense_Mutation_p.E247K|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.E247K|ESR1_ENST00000456483.2_Missense_Mutation_p.E247K	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	247	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.E247K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TAAATGCTACGAAGTGGGAAT	0.542000													5	40					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72047535	72047535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:72047535G>A	ENST00000265381.4	-	12	2581	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	787	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCAATGATCCGGTGCCCCACA	0.582000													14	88					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324450	79324450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79324450C>T	ENST00000428286.1	-	8	2863	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E914K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	914					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTACCTTTTCATATACCTTG	0.398000													16	143					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571848	166571848	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:166571848G>A	ENST00000296946.2	-	9	1731	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	T_ENST00000366871.3_Silent_p.G363G	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	421					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTATGAGGCGGCCTTGGGCTG	0.632000									Chordoma, Familial Clustering of				13	208					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345090	60345090	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:60345090G>A	ENST00000581291.1	-	0	877																				breast(2)|kidney(1)|lung(2)	5						GCAGCCTAAGGACGAACACTG	0.577000													11	166					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635323	7635323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7635323C>T	ENST00000359156.4	-	14	3365	c.3163G>A	c.(3163-3165)Ggg>Agg	p.G1055R	CD163_ENST00000432237.2_Missense_Mutation_p.G1055R|CD163_ENST00000396620.3_Missense_Mutation_p.G1088R|CD163_ENST00000541972.1_Missense_Mutation_p.G1043R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1055					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAAGGATCCCGACTGCAATA	0.423000													4	69					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523757	38523757	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38523757C>T	ENST00000352511.3	+	9	1615	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	381	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GAGATGCCTTCCTGCGCATTG	0.567000													7	41					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002394	170002394	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:170002394A>G	ENST00000263816.3	-	70	13136	c.12851T>C	c.(12850-12852)tTa>tCa	p.L4284S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4284					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TATCCAGTATAACTGGTCTTC	0.403000													6	38					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175041	63175041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:63175041C>T	ENST00000322893.7	-	11	2420	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	718					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCGCAGCTCCTTCTGCTGC	0.577000													6	118					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573242	142573242	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142573242G>A	ENST00000359396.3	-	8	1346	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	367					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTGCTGTAAGAGGGTGTTGT	0.562000													22	97					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619965	145619965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145619965G>A	ENST00000349769.3	-	31	3555	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1154					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTTGGTCAAGGGCTGGCCAGG	0.607000													5	58					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105922	168105922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:168105922G>A	ENST00000409195.1	+	9	8109	c.8020G>A	c.(8020-8022)Gaa>Aaa	p.E2674K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2674K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2452K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2499					actin cytoskeleton organization	cell junction	actin binding	p.E2674K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAGCTTGCGAAATTAAACA	0.398000													4	57					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363000													10	102					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043328	153043328	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:153043328C>T	ENST00000367245.5	+	2	656	c.648C>T	c.(646-648)ggC>ggT	p.G216G	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	216						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCGAGTGGGCCTTTCAACAC	0.512000													7	101					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330956	21330956	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21330956C>T	ENST00000313654.9	+	5	1000	c.759C>T	c.(757-759)acC>acT	p.T253T	LAMA3_ENST00000399516.3_Silent_p.T253T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	253	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGAGTTTACCAAGGCAACAA	0.473000													10	102					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016329	141016329	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:141016329C>T	ENST00000277549.5	+	47	7049	c.4480C>T	c.(4480-4482)Ctg>Ttg	p.L1494L	CACNA1B_ENST00000371355.4_Silent_p.L2301L|CACNA1B_ENST00000371357.1_Silent_p.L2299L|CACNA1B_ENST00000371363.1_Silent_p.L2298L|CACNA1B_ENST00000371372.1_Silent_p.L2300L|CACNA1B_ENST00000277551.2_Silent_p.P2237P			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2300					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGTGTCCTCCCTGACCTCCCA	0.662000													15	140					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111741286	111741286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:111741286C>T	ENST00000357640.4	-	3	551	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.G105R	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	108	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CACTCATTCCCATCTGGGAAG	0.542000													16	146					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166929123	166929123	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:166929123G>A	ENST00000061240.2	+	7	1487	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TLL1_ENST00000513213.1_Silent_p.E280E|TLL1_ENST00000507499.1_Silent_p.E280E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	280	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAAGATGGAGCCTGGAGAAG	0.408000													3	54					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179137190	179137190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:179137190G>A	ENST00000232564.3	-	4	486	c.200C>T	c.(199-201)tCc>tTc	p.S67F	GNB4_ENST00000468623.1_Missense_Mutation_p.S67F	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	67					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TACAAACCTGGAATCGTATCC	0.363000													15	104					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88696643	88696643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:88696643C>T	ENST00000372027.4	-	7	2780	c.2707G>A	c.(2707-2709)Ggg>Agg	p.G903R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	903	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTTCCACTCCCCTGCCCAGTG	0.557000													29	310					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38671833	38671833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38671833G>A	ENST00000413689.1	-	3	554	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	SCN5A_ENST00000449557.2_Missense_Mutation_p.R121W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R121W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R121W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R121W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R121W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R121W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R121W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R121W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R121W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	121					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCGCTCTCCGGATGGGGTGG	0.552000													9	156					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607085	46607085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46607085C>T	ENST00000239174.6	-	2	822	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	244						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCTGTGTTTCATTGAGCTCC	0.582000													27	300					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261109	23261109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:23261109G>A	ENST00000450802.3	+	10	882	c.784G>A	c.(784-786)Gag>Aag	p.E262K																								AATGTCGCAGGAGGTGAGATC	0.478000													19	134					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074105	108074105	+	Missense_Mutation	SNP	G	G	A	rs137976918	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108074105G>A	ENST00000357759.5	+	5	976	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	HHLA2_ENST00000467562.1_Missense_Mutation_p.G124R|HHLA2_ENST00000491820.1_Missense_Mutation_p.G188R|HHLA2_ENST00000489514.2_Missense_Mutation_p.G188R|HHLA2_ENST00000467761.1_Missense_Mutation_p.G188R	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	188	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGAAGAAACAGGGTCTTTGGA	0.363000													5	23					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122943	39122943	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39122943C>G	ENST00000355612.2	-	1	201	c.166G>C	c.(166-168)Gac>Cac	p.D56H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	56	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGCCCTGGTCCCAGGGAATT	0.507000													21	145					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136247	92136247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92136247G>A	ENST00000256343.3	-	14	1354	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	400					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P400S(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CGAAAAATTGGAAATTTTGAT	0.408000													10	90					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52817097	52817097	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52817097T>C	ENST00000273283.2	+	9	1079	c.1055T>C	c.(1054-1056)cTa>cCa	p.L352P	ITIH1_ENST00000542827.1_Missense_Mutation_p.L352P|ITIH1_ENST00000540715.1_Missense_Mutation_p.L210P|ITIH1_ENST00000537050.1_Missense_Mutation_p.L64P	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	352	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGGCCAACCTACAAGCAGCT	0.562000													5	63					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81565429	81565429	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:81565429A>G	ENST00000394660.2	+	6	1035		c.e6-1		IL16_ENST00000302987.4_Splice_Site	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16						immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTTTTTCCCCAGGGTCTGGGC	0.512000													4	50					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167852753	167852753	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:167852753G>A	ENST00000367848.1	-	9	1163	c.666C>T	c.(664-666)atC>atT	p.I222I	ADCY10_ENST00000545172.1_Silent_p.I161I|ADCY10_ENST00000367851.4_Silent_p.I314I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	314					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.I314I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGCATCCTGGATGGCTGGGC	0.448000													6	105					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936104	43936104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43936104C>T	ENST00000262726.7	-	28	4035	c.3782G>A	c.(3781-3783)gGg>gAg	p.G1261E	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.G1109E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GACACTGCTCCCTCTCTGGGC	0.617000													8	98					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:147092834C>T	ENST00000361727.3	+	10	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)			9	132					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152358	133152358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:133152358C>T	ENST00000388996.4	-	11	1953	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.M511I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.M391I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	511					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGGGATCATGTCTTCGA	0.632000													4	80					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23313074	23313074	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23313074T>C	ENST00000311852.6	+	6	1267	c.1006T>C	c.(1006-1008)Ttc>Ctc	p.F336L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	336	Hemopexin-like 1.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GATGTTTGTCTTCAAGGTGAG	0.532000													13	103					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942668	6942668	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6942668C>T	ENST00000317834.3	+	1	464	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCAAGCCCCTGTACTACTC	0.512000													13	135					0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145498121	145498121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:145498121C>T	ENST00000369308.3	+	5	786	c.712C>T	c.(712-714)Caa>Taa	p.Q238*	RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	238										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACAGTTTTTCAACTGCTACA	0.468000													4	96					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246141	166246141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166246141G>A	ENST00000375437.2	+	27	6115	c.5825G>A	c.(5824-5826)gGa>gAa	p.G1942E	SCN2A_ENST00000357398.3_Missense_Mutation_p.G1942E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1942E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1942E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1942					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATGTGATGGAACACCCATC	0.398000													8	34					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417918	17417918	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:17417918G>A	ENST00000470360.1	+	11	1614	c.1497G>A	c.(1495-1497)tcG>tcA	p.S499S	SLC7A2_ENST00000004531.10_Silent_p.S500S|SLC7A2_ENST00000398090.3_Silent_p.S499S|SLC7A2_ENST00000494857.1_Silent_p.S460S|SLC7A2_ENST00000522656.1_Silent_p.S460S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	460					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTAACCTCGAAGAGTGAGT	0.542000													8	59					0	0	1	0	0
POMGNT2	84892	broad.mit.edu	37	3	43121648	43121648	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:43121648G>A	ENST00000344697.2	-	2	1621	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	GTDC2_ENST00000441964.1_Silent_p.L426L	NM_032806.4	NP_116195.2																					CGGCTTTGCAGGATACGGGCT	0.612000													10	38					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225062	79225062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:79225062G>A	ENST00000288439.5	-	14	2641	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCATGTGACGATGCCGCAGG	0.488000													11	103					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708490	152708490	+	Nonsense_Mutation	SNP	C	C	T	rs145493303		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152708490C>T	ENST00000367255.5	-	54	8805	c.8204G>A	c.(8203-8205)tGg>tAg	p.W2735*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W2742*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W2735*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W2742*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W2774*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2735					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGTCATTCCATTGGCTAAT	0.373000										HNSCC(10;0.0054)			12	63					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225596	21225596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21225596G>A	ENST00000233242.1	-	29	12825	c.12698C>T	c.(12697-12699)tCg>tTg	p.S4233L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4233					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGACTTTCGAATATACCTG	0.413000													9	75					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479455	156479455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156479455G>A	ENST00000339252.3	-	3	1122	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.P197L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P197L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P197L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P197L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	192	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTGTTGTTGGAATGCTCGT	0.453000													16	354					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719559	162719559	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:162719559C>T	ENST00000375514.5	+	7	1073	c.786C>T	c.(784-786)tcC>tcT	p.S262S	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Silent_p.S251S|SLC4A10_ENST00000415876.2_Silent_p.S251S|SLC4A10_ENST00000446997.1_Silent_p.S251S|SLC4A10_ENST00000421911.1_Silent_p.S251S|SLC4A10_ENST00000272716.5_Silent_p.S251S	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	251					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACCAAATTCCATGGACAAAA	0.338000													3	49					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5510223C>T	ENST00000322641.5	+	1	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000													3	38					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891416	44891416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:44891416G>A	ENST00000330997.4	-	4	1055	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.L338F|ZNF285_ENST00000544719.2_Missense_Mutation_p.L331F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGGTTGTGAAGGGAAGAGCTG	0.478000													4	72					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410044	126410044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126410044G>A	ENST00000339582.2	-	7	2040	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	GRM8_ENST00000444921.2_Missense_Mutation_p.S411F|GRM8_ENST00000405249.1_Missense_Mutation_p.S411F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S411F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	411					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTAAGCCATGGAATATACAGC	0.428000										HNSCC(24;0.065)			8	25					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62357301	62357301	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:62357301G>A	ENST00000283268.3	-	3	1188	c.894C>T	c.(892-894)gtC>gtT	p.V298V	FEZF2_ENST00000486811.1_Silent_p.V298V|FEZF2_ENST00000475839.1_Silent_p.V298V	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	298					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTCCGGTGTGGACCGGCATGT	0.582000													12	116					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611435	84611435	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84611435G>A	ENST00000286744.5	+	18	2429	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	ADAMTSL3_ENST00000567476.1_Silent_p.E735E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	735	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCCAGGGGAGACCCCTGCCC	0.557000													10	70					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71752379	71752379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:71752379G>A	ENST00000318442.5	-	3	1866	c.1376C>T	c.(1375-1377)aCc>aTc	p.T459I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCCAGCAGGGTGAACTCCCG	0.537000													25	221					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433431	72433431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:72433431C>T	ENST00000373517.3	-	1	1253	c.898G>A	c.(898-900)Gag>Aag	p.E300K	NAP1L2_ENST00000536638.1_Missense_Mutation_p.E158K	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	300					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTCAACAACTCATTTTTGAAA	0.413000													7	50					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723788	140723788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140723788G>A	ENST00000253812.6	+	1	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGCGCGGAGTCCGCATC	0.612000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	148					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976596	38976596	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38976596G>A	ENST00000359357.3	+	87	12824	c.12570G>A	c.(12568-12570)caG>caA	p.Q4190Q	DNAH8_ENST00000441566.1_Silent_p.Q4154Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTAGGTATCAGAGTAACACTG	0.393000													7	110					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293501	120293501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:120293501C>T	ENST00000369406.3	-	9	1500	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	HMGCS2_ENST00000544913.2_Missense_Mutation_p.S442N	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	484					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGGAAAAGGCTGTTTGTGTC	0.488000													4	40					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61582854	61582854	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61582854C>A	ENST00000238508.3	+	2	169	c.110C>A	c.(109-111)aCt>aAt	p.T37N		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AGCATCTCAACTTCCTTGACC	0.448000													8	56					4.68919e-08	4.73778e-08	1	1	0
BCL2L2	599	broad.mit.edu	37	14	23778167	23778167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23778167G>A	ENST00000250405.5	+	4	804	c.575G>A	c.(574-576)aGc>aAc	p.S192N	BCL2L2-PABPN1_ENST00000557008.1_Intron|BCL2L2-PABPN1_ENST00000553781.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		TTTTTTGCTAGCAAGTGAAAG	0.622000													3	40					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604089	111604089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111604089G>A	ENST00000431670.2	+	2	1576	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.E416K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E389K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E389K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	389						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGATCTGTGGAATTTGATGA	0.512000													6	42					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340198	100340198	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:100340198C>T	ENST00000341853.1	-	0	728					NR_003260.1																						CGAGTCTCGTCGCGCCGCTGT	0.627000													4	48					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605689	142605689	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142605689G>A	ENST00000265310.1	-	15	2529	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	727	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATCAAAAATGGTAGACCTCCT	0.537000													5	112					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699707	136699707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:136699707C>T	ENST00000445907.2	+	3	623	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CHRM2_ENST00000453373.1_Missense_Mutation_p.S32F|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S32F|CHRM2_ENST00000397608.3_Missense_Mutation_p.S32F|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S32F|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S32F|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	32					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			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)	GTGGCTGGATCCCTCAGTTTG	0.423000													7	68					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427361	119427361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:119427361C>T	ENST00000369429.3	-	8	1812	c.1803G>A	c.(1801-1803)atG>atA	p.M601I	TBX15_ENST00000207157.3_Missense_Mutation_p.M495I			Q96SF7	TBX15_HUMAN	T-box 15	601						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCCTTTAAACCATGTGCACGG	0.532000													11	109					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50118286	50118286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50118286G>A	ENST00000374160.3	-	2	858	c.782C>T	c.(781-783)tCc>tTc	p.S261F	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	261						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTACTCTAGGAAGATGTCAA	0.502000													4	92					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36588231	36588231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:36588231C>T	ENST00000431169.1	-	15	1420	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	AOAH_ENST00000538464.1_Missense_Mutation_p.D96N|AOAH_ENST00000258749.5_Missense_Mutation_p.D374N|AOAH_ENST00000535891.1_Missense_Mutation_p.D342N|AOAH_ENST00000491444.1_5'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	374					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CTGCAGACATCATTTCCAATC	0.438000													8	112					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36976627	36976627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:36976627C>T	ENST00000274963.8	+	2	257	c.86C>T	c.(85-87)cCc>cTc	p.P29L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	29					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAAGCAGCACCCAGAGGCCAG	0.627000													4	100					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137058	126137058	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:126137058C>T	ENST00000299308.3	+	8	1979	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	TMEM132B_ENST00000535886.1_Silent_p.I169I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	657						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGTCACCATCGCGGAGCTGG	0.587000													6	81					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874065	36874065	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36874065A>T	ENST00000429976.2	-	21	7124	c.6877T>A	c.(6877-6879)Ttc>Atc	p.F2293I	TRANK1_ENST00000301807.6_Missense_Mutation_p.F1743I|TRANK1_ENST00000428977.2_Missense_Mutation_p.F1743I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2293					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGAGAAGGAAAGCTTGCATG	0.493000													4	34					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114400916	114400916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:114400916C>T	ENST00000536312.1	-	6	1706	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	NXPE1_ENST00000251921.2_Missense_Mutation_p.E130K|NXPE1_ENST00000424269.1_Missense_Mutation_p.E272K					neurexophilin and PC-esterase domain family, member 1																		AGGCTGTTTTCCTTGTCTGTA	0.463000													6	53					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178392	142178392	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:142178392A>C	ENST00000519811.1	+	13	2113	c.2043A>C	c.(2041-2043)gaA>gaC	p.E681D	DENND3_ENST00000262585.2_Missense_Mutation_p.E601D|DENND3_ENST00000424248.1_Missense_Mutation_p.E549D			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	601										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)			GGACGGTGGAATCCATGTCTG	0.572000													13	124					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31606681	31606681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31606681G>A	ENST00000379416.3	-	10	874	c.826C>T	c.(826-828)Cct>Tct	p.P276S	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	276	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAATCATAGGAAACAGCATA	0.493000													6	38					0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156170037	156170037	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156170037C>T	ENST00000359511.4	+	2	571	c.399C>T	c.(397-399)gtC>gtT	p.V133V	SLC25A44_ENST00000423538.2_Intron|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	133					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TTGATGTAGTCTCCCAGCACC	0.557000													5	71					0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114540849	114540849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:114540849G>A	ENST00000371920.3	+	4	429	c.422G>A	c.(421-423)gGa>gAa	p.G141E	LUZP4_ENST00000451986.2_Missense_Mutation_p.G59E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	141						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CAATCAGAAGGAAATCCGGAC	0.458000													7	29					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388000													15	109					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:42080489G>A	ENST00000400454.1	-	2	729	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000													8	87					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762055	92762055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92762055C>T	ENST00000318238.4	-	5	4446	c.3230G>A	c.(3229-3231)cGa>cAa	p.R1077Q	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1077Q|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1077Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1077										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTGGGAATCGTCTACTTCC	0.418000													11	87					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640462	3640462	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3640462G>A	ENST00000294008.3	-	12	3817	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1059	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGGACCGGGGTGTTGACA	0.637000								Direct reversal of damage					6	151					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593304	47593304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:47593304G>A	ENST00000273859.3	+	23	4456	c.4187G>A	c.(4186-4188)gGa>gAa	p.G1396E		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1396					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATTGAGCAAGGAAACTTATCT	0.458000													6	86					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616848	1616848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:1616848G>A	ENST00000381580.1	-	3	814	c.635C>T	c.(634-636)tCt>tTt	p.S212F	SIRPG_ENST00000381583.2_Missense_Mutation_p.S245F|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.S245F|SIRPG_ENST00000303415.3_Missense_Mutation_p.S245F|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	245	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATGGCCTCAGACAAGTTGGC	0.627000													7	66					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048900	180048900	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:180048900G>A	ENST00000261937.6	-	13	1740	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.I554I|FLT4_ENST00000393347.3_Silent_p.I554I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	554					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCGTCGGGGATGGCTGTGG	0.652000													20	172					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2949716	2949716	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2949716G>A	ENST00000396946.4	-	24	3631	c.3228C>T	c.(3226-3228)atC>atT	p.I1076I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1076	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACACACCCGGATGAAGAGCA	0.587000			Mis		DLBCL								14	213					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846399	55846399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55846399G>A	ENST00000322678.1	+	1	402	c.402G>A	c.(400-402)atG>atA	p.M134I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGGTCATCATGAACAACAGGG	0.453000													8	75					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970729	57970729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57970729C>T	ENST00000302592.6	-	1	924	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCTTTCATATCCTTATTCCTC	0.428000													13	114					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179989174	179989174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179989174C>T	ENST00000428443.3	-	11	1400	c.1084G>A	c.(1084-1086)Gtt>Att	p.V362I		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	362					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGATAACAAACATCACTAAGT	0.418000													7	66					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95224385	95224385	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:95224385G>A	ENST00000005178.5	-	2	419	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	74					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GGGTCGGGAGGATATCAATTT	0.388000													13	186					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932528	79932528	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:79932528T>C	ENST00000373275.4	-	41	5205	c.4989A>G	c.(4987-4989)agA>agG	p.R1663R		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1663	Gly-rich.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTCCAATTTCTTTTTCCAT	0.468000													15	79					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23059356	23059356	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23059356G>A	ENST00000221132.3	-	4	658	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	198					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CAGCAGAATTGTCATTCCGGA	0.512000													8	76					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99364754	99364754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:99364754C>T	ENST00000376503.5	-	10	863	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	270					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TTACTTACATCGTATTTCTCT	0.428000													4	101					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67108540	67108540	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:67108540A>G	ENST00000371037.4	+	6	353	c.276A>G	c.(274-276)gaA>gaG	p.E92E	SGIP1_ENST00000371035.3_Silent_p.E49E|SGIP1_ENST00000371036.3_Silent_p.E67E|SGIP1_ENST00000371039.1_Silent_p.E68E|SGIP1_ENST00000237247.6_Silent_p.E96E|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	92					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACCCGAGGAACCCGGCTATA	0.333000													5	33					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062937	76062937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:76062937C>T	ENST00000416245.1	+	3	1251	c.158C>T	c.(157-159)cCt>cTt	p.P53L	ZP3_ENST00000336517.4_Missense_Mutation_p.P178L|ZP3_ENST00000394857.3_Missense_Mutation_p.P229L			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	229	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AATGCCTCCCCTTATCACACC	0.567000													15	179					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42211043	42211043	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42211043G>A	ENST00000541110.1	-	15	3430	c.2862C>T	c.(2860-2862)atC>atT	p.I954I	TRERF1_ENST00000354325.2_Silent_p.I851I|TRERF1_ENST00000340840.2_Silent_p.I851I|TRERF1_ENST00000372917.4_Silent_p.I851I|TRERF1_ENST00000372922.4_Silent_p.I934I			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	934	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGCCGCATGATCTTTTTCC	0.552000													7	182					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645469	167645469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:167645469G>A	ENST00000519204.1	+	22	4328	c.4210G>A	c.(4210-4212)Gat>Aat	p.D1404N	TENM2_ENST00000545108.1_Missense_Mutation_p.D1524N|TENM2_ENST00000520394.1_Missense_Mutation_p.D1286N|TENM2_ENST00000518659.1_Missense_Mutation_p.D1525N|TENM2_ENST00000403607.2_Missense_Mutation_p.D1349N					teneurin transmembrane protein 2																		CTGCAAAAACGATGTCAATTG	0.488000													20	181					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488743	128488743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128488743G>A	ENST00000325888.8	+	27	4970	c.4709G>A	c.(4708-4710)gGc>gAc	p.G1570D	FLNC_ENST00000346177.6_Missense_Mutation_p.G1570D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1570					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGACGCGGGCGAGGGGTTG	0.657000													8	156					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097674	9097674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:9097674C>T	ENST00000377424.4	-	12	1656	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC2A5_ENST00000536305.1_Missense_Mutation_p.E434K|SLC2A5_ENST00000535586.1_Missense_Mutation_p.E378K	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	493					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAAGCTCTTTCAGTTCC	0.498000													25	182					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050905	72050905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72050905C>T	ENST00000378743.3	-	2	1133	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.E259K|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.E259K|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	259					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTAGGATCTTCCTGCACATTC	0.348000													7	56					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568525	43568525	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43568525G>A	ENST00000216129.6	-	10	1440	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	459	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTTCTCGAAGGAACAACACGG	0.582000													15	112					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768817	50768817	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:50768817G>A	ENST00000216923.4	-	6	2263	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Silent_p.I636I|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.I584I|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGCCACTGCGATGTTCTGGC	0.557000													9	70					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38644975	38644975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38644975G>A	ENST00000254051.6	-	3	844	c.686C>T	c.(685-687)cCc>cTc	p.P229L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	229	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGAGATGCTGGGGGAATTTGG	0.652000													4	23					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061159	15061159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15061159C>T	ENST00000430939.2	-	9	1480	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	SLC1A6_ENST00000221742.3_Missense_Mutation_p.G515R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G437R			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	515					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACGGCCGCTCCAATTGAGTCC	0.562000													9	90					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062722	76062722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76062722G>A	ENST00000260045.3	-	5	1577	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	491					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCTTGTAAAAGATAGGACATT	0.423000													5	45					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833267	61833267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61833267C>T	ENST00000280772.1	-	37	7563	c.7372G>A	c.(7372-7374)Ggg>Agg	p.G2458R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2458					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGACTCCCCTCTTAGTTCT	0.413000													8	62					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912044	87912044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87912044C>T	ENST00000380079.4	-	3	997	c.896G>A	c.(895-897)gGa>gAa	p.G299E	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G299E	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	299	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GAAGGCAAATCCCAGAGCTAC	0.468000													3	59					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97402889	97402889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97402889G>A	ENST00000371224.2	-	3	300	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R55C	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	55	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CCATGTGTACGACTGAGGGGT	0.522000													11	155					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132441	193132441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:193132441G>A	ENST00000342695.4	-	26	3263	c.2941C>T	c.(2941-2943)Ctc>Ttc	p.L981F	ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.L962F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	981					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L981F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCAGGCTGAGAAGAATGTTG	0.498000													6	74					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52992771	52992771	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52992771C>T	ENST00000293745.2	-	2	637	c.552G>A	c.(550-552)caG>caA	p.Q184Q	KRT72_ENST00000537672.2_Silent_p.Q184Q|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Silent_p.Q184Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	184	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCAGCTGCTTCTGCAGGTTGC	0.542000													14	235					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500373	152500373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152500373C>T	ENST00000397345.3	-	57	8117	c.7915G>A	c.(7915-7917)Gat>Aat	p.D2639N	NEB_ENST00000604864.1_Missense_Mutation_p.D2639N|NEB_ENST00000172853.10_Missense_Mutation_p.D2639N|NEB_ENST00000427231.2_Missense_Mutation_p.D2639N|NEB_ENST00000603639.1_Missense_Mutation_p.D2639N|NEB_ENST00000409198.1_Missense_Mutation_p.D2639N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2639					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATGACATCGCTCTGGTCG	0.512000													13	191					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89939461	89939461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:89939461C>T	ENST00000389297.4	+	23	2986	c.2735C>T	c.(2734-2736)gCt>gTt	p.A912V	C7orf63_ENST00000316089.8_Missense_Mutation_p.A866V|C7orf63_ENST00000497910.1_Missense_Mutation_p.A894V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	912							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACGGATATTGCTCTTAAAAAA	0.433000													6	90					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188335	57188335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:57188335G>A	ENST00000331162.4	-	5	1057	c.787C>T	c.(787-789)Cat>Tat	p.H263Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAGTTCTCTTA	0.428000													3	28					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74123754	74123754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:74123754G>A	ENST00000370336.4	+	13	1716	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	520	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCATGGAGATAGAGAACA	0.348000													7	70					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022237	7022237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7022237C>T	ENST00000278314.4	-	3	992	c.677G>A	c.(676-678)gGa>gAa	p.G226E	ZNF214_ENST00000536068.1_Missense_Mutation_p.G226E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATAATAAATTCCTTTACATTT	0.408000													5	60					0	0	1	0	0
SMCO4	56935	broad.mit.edu	37	11	93212284	93212284	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:93212284C>T	ENST00000298966.2	-	3	457	c.72G>A	c.(70-72)caG>caA	p.Q24Q	SMCO4_ENST00000527149.1_Silent_p.Q24Q|SMCO4_ENST00000525141.1_Silent_p.Q24Q	NM_020179.2	NP_064564.1			single-pass membrane protein with coiled-coil domains 4																		GCCGGGCCTCCTGCATGGCTT	0.597000													3	80					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321833	8321833	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8321833G>A	ENST00000558331.1	+	9	919	c.459_splice	c.e9-1	p.D154_splice	CERS4_ENST00000559336.1_Splice_Site_p.D205_splice|CERS4_ENST00000251363.5_Splice_Site_p.D205_splice|CERS4_ENST00000559450.1_Splice_Site_p.D205_splice|CERS4_ENST00000595722.1_3'UTR			Q9HA82	CERS4_HUMAN	ceramide synthase 4	205	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTACTGCAGGATTTCAAGGA	0.577000													47	431					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248969	49248969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49248969G>A	ENST00000332955.2	-	2	695	c.148C>T	c.(148-150)Cac>Tac	p.H50Y		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	50					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ATGGCTTTGTGATGCTTCGCA	0.547000													10	141					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481048	140481048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140481048G>A	ENST00000231130.2	+	1	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		272	Cadherin 3.				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)			TTAGATACAGGAAGTTTTGGG	0.408000													10	108					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56989547	56989547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:56989547G>A	ENST00000371250.3	-	4	1132	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	194					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGAGAAGAAGGACTTCCTGCA	0.493000													9	40					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061553	40061553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40061553C>T	ENST00000336649.4	+	25	3920	c.3920C>T	c.(3919-3921)tCc>tTc	p.S1307F	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1266F|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1301F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1266F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1266F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1301F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1301					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACACTCATCTCCTCCCTCAAG	0.617000													8	81					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100229709	100229709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100229709C>T	ENST00000462107.1	-	8	1249	c.962G>A	c.(961-963)gGa>gAa	p.G321E	TFR2_ENST00000223051.3_Missense_Mutation_p.G321E|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	321					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCACATGTCCATACACTGC	0.582000													11	120					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105823526	105823526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:105823526C>T	ENST00000353479.5	-	11	1107	c.817G>A	c.(817-819)Gga>Aga	p.G273R	COL17A1_ENST00000369733.3_Missense_Mutation_p.G273R|COL17A1_ENST00000393211.3_Missense_Mutation_p.G273R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	273	Nonhelical region (NC16).				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)		GTGCTGAGTCCAGGGTGCAAA	0.527000													4	95					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560590	44560590	+	Missense_Mutation	SNP	C	C	T	rs2571029		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44560590C>T	ENST00000332567.4	-	1	1398	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	349					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGTGGCTTCCCCTCTTGAGT	0.587000													5	65					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19495026	19495026	+	Silent	SNP	C	C	T	rs138627266		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19495026C>T	ENST00000407835.1	+	12	1198	c.942C>T	c.(940-942)ttC>ttT	p.F314F	CDC45_ENST00000404724.3_Silent_p.F268F|CDC45_ENST00000263201.1_Silent_p.F314F|CDC45_ENST00000437685.2_Silent_p.F346F			O75419	CDC45_HUMAN	cell division cycle 45	314					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCCAGGAGTTCCTTGCAGACA	0.587000													9	90					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218945	42218945	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:42218945G>A	ENST00000221992.6	+	3	594	c.480G>A	c.(478-480)aaG>aaA	p.K160K	CEACAM5_ENST00000398599.4_Silent_p.K160K|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.K160K	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	160	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGAGGACAAGGATGCTGTGG	0.567000													10	213					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159682262	159682262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:159682262G>A	ENST00000297267.9	+	19	5415	c.5215G>A	c.(5215-5217)Gga>Aga	p.G1739R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1676R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1739	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCATGGCTACGGACCTATCAG	0.333000													5	65					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803313	113803313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:113803313G>A	ENST00000375559.3	+	8	987	c.949G>A	c.(949-951)Gag>Aag	p.E317K	F10_ENST00000375551.3_Silent_p.R313R|F10_ENST00000409306.1_Silent_p.R315R	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	317	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCACAAAGGAGACCTATGA	0.647000													26	269					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768044	77768044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77768044G>A	ENST00000521891.2	+	10	9335	c.8887G>A	c.(8887-8889)Ggg>Agg	p.G2963R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2918R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2918R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2937R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2918						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAATGTTAGGGAATGAGAT	0.423000										HNSCC(33;0.089)			6	32					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701440	192701440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:192701440C>T	ENST00000304141.4	-	2	816	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	163						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCTCATTTTCCTCCTGAAAA	0.468000													4	21					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761187	92761187	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92761187G>A	ENST00000318238.4	-	5	5314	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F	SAMD9L_ENST00000437805.1_Silent_p.F1366F|SAMD9L_ENST00000411955.1_Silent_p.F1366F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1366										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTGCAGTAGGAAGGCATATT	0.383000													11	106					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005809	118005809	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:118005809C>T	ENST00000310754.4	-	1	927	c.741G>A	c.(739-741)caG>caA	p.Q247Q		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	247	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ATATGCCTTTCTGGTACTTTT	0.408000													4	59					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111935966	111935966	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:111935966C>T	ENST00000361822.3	+	3	465	c.336C>T	c.(334-336)atC>atT	p.I112I	ZNF277_ENST00000450657.1_Silent_p.I112I	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	112						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AACAGCCCATCACAGATTTTT	0.328000													6	101					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752387	247752387	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247752387G>A	ENST00000320065.1	+	1	726	c.726G>A	c.(724-726)ggG>ggA	p.G242G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGCATTCGGGACCTGCTTCT	0.507000													4	45					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690903	6690903	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6690903G>A	ENST00000309577.6	-	30	4840	c.4677C>T	c.(4675-4677)tcC>tcT	p.S1559S	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.S1524S|CHD4_ENST00000357008.2_Silent_p.S1531S|CHD4_ENST00000544484.1_Silent_p.S1556S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1531					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCCTGGCTGGGACATCTTCT	0.552000													7	163					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511732	36511732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:36511732G>A	ENST00000526995.1	-	7	1471	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	TRAF6_ENST00000348124.5_Missense_Mutation_p.L409F	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	409	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGACAAAAAGGGATATATAG	0.493000													3	53					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212466	50212466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50212466C>T	ENST00000284509.6	-	18	2041	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E634K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	634					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E634K(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCAATTTCTTCATATAGCCCA	0.393000													15	194					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319442	31319442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31319442G>A	ENST00000269197.5	+	11	2074	c.2074G>A	c.(2074-2076)Gca>Aca	p.A692T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	692	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATATCAGAAGCATCTCTTAT	0.368000													7	97					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269404	150269404	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150269404C>T	ENST00000255945.2	+	3	421	c.246C>T	c.(244-246)gtC>gtT	p.V82V	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.V96V	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	82							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAACTTGTCGTAGTTGACA	0.498000													6	37					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752041	51752041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:51752041G>A	ENST00000543196.2	-	8	1578	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	GALNT6_ENST00000356317.3_Missense_Mutation_p.S458F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	458					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTCACCGAAGGATTTCTGTCA	0.473000													16	116					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680528	9680528	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:9680528T>C	ENST00000330255.4	-	4	568	c.556A>G	c.(556-558)Atc>Gtc	p.I186V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.I185V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	186						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CGGAACGGGATTCCAAACTTC	0.418000													3	48					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627199	29627199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29627199G>A	ENST00000376894.4	+	2	310	c.192G>A	c.(190-192)atG>atA	p.M64I	MOG_ENST00000494692.1_Missense_Mutation_p.M64I|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.M64I|MOG_ENST00000396701.2_Missense_Mutation_p.M64I|MOG_ENST00000396704.3_Missense_Mutation_p.M64I|MOG_ENST00000533330.2_Missense_Mutation_p.M64I|MOG_ENST00000376888.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.M64I|MOG_ENST00000431798.2_Missense_Mutation_p.M64I|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Missense_Mutation_p.M64I|MOG_ENST00000376917.3_Missense_Mutation_p.M64I|MOG_ENST00000376891.4_Missense_Mutation_p.M64I			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	64	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTACAGGCATGGAGGTGGGGT	0.562000													13	157					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694920	247694920	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247694920C>T	ENST00000366487.3	-	2	1255	c.894G>A	c.(892-894)gtG>gtA	p.V298V	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGGCGCTCTTCACCTCCGTGT	0.532000													7	75					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726056	31726056	+	Missense_Mutation	SNP	C	C	T	rs28399977	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31726056C>T	ENST00000493662.2	+	13	1236	c.1180C>T	c.(1180-1182)Ctc>Ttc	p.L394F	MSH5_ENST00000375750.3_Missense_Mutation_p.L377F|MSH5_ENST00000375742.3_Missense_Mutation_p.L394F|MSH5_ENST00000375755.3_Missense_Mutation_p.L377F|MSH5_ENST00000375740.3_Missense_Mutation_p.L394F|MSH5_ENST00000375703.3_Missense_Mutation_p.L377F|MSH5_ENST00000431848.2_Missense_Mutation_p.L76F|MSH5_ENST00000534153.4_Missense_Mutation_p.L394F|MSH5_ENST00000395853.1_Missense_Mutation_p.L51F																							TATCGCCAGCCTCATTGGGAA	0.552000													4	71					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200977979	200977979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200977979C>T	ENST00000332129.2	-	3	681	c.365G>A	c.(364-366)gGg>gAg	p.G122E	KIF21B_ENST00000461742.2_Missense_Mutation_p.G122E|KIF21B_ENST00000422435.2_Missense_Mutation_p.G122E|KIF21B_ENST00000360529.5_Missense_Mutation_p.G122E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	122	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGCAATGCCCCCAAAGAGGTG	0.642000													7	180					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221394	55221394	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55221394G>A	ENST00000413439.1	+	0	1174																											TGGCCCCTGGGGAGAATCTGA	0.622000													6	45					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189891	58189891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58189891G>A	ENST00000318203.5	+	5	1617	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	307					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGATCCCATGGAGTCCAAAAA	0.458000													7	96					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663453	71663453	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71663453G>A	ENST00000567566.1	+	2	720	c.651G>A	c.(649-651)ggG>ggA	p.G217G	MARVELD3_ENST00000268485.3_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TTCTGGAAGGGATGGTCTGAG	0.428000													11	100					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115594656	115594656	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:115594656C>T	ENST00000265440.7	-	5	603	c.423G>A	c.(421-423)aaG>aaA	p.K141K	TFEC_ENST00000393485.1_Silent_p.K112K|TFEC_ENST00000457268.1_Silent_p.K74K|TFEC_ENST00000320239.7_Silent_p.K112K|TFEC_ENST00000484212.1_Silent_p.K231K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTGGTTGTCCTTTTTTTGTC	0.333000													3	36					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65351728	65351728	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65351728C>T	ENST00000220062.4	-	3	465	c.189G>A	c.(187-189)gtG>gtA	p.V63V	RASL12_ENST00000421977.3_Silent_p.V44V|RASL12_ENST00000434605.2_Silent_p.V52V	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	63					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GCTGGTGGTCCACAGTCTCCT	0.527000													5	65					0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553245	124553245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124553245G>A	ENST00000517956.1	-	1	201	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	FBXO32_ENST00000443022.2_Missense_Mutation_p.L4F	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	4										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGCCCGAGGAATGGCATG	0.701000													7	43					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:54337720C>T	ENST00000354646.2	-	3	980	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	WNK3_ENST00000375159.2_Missense_Mutation_p.R181Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R181Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	181	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTAACTTTCGGTCCTGAAA	0.378000													4	21					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548961	158548961	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158548961C>T	ENST00000368150.1	-	1	728	c.729G>A	c.(727-729)agG>agA	p.R243R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGAAGGGATCCTGAGGACAG	0.453000													10	73					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55808737	55808737	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:55808737A>T	ENST00000272313.5	-	8	1658	c.1331T>A	c.(1330-1332)cTa>cAa	p.L444Q	SMEK2_ENST00000407823.3_Missense_Mutation_p.L444Q|SMEK2_ENST00000345102.5_Missense_Mutation_p.L444Q	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	444						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGATCAATTAGAGTACGAAG	0.368000													12	120					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481408	140481408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140481408G>A	ENST00000288602.6	-	11	1460	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	467	Protein kinase.		S -> A (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.S467L(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTTCCAAATGATCCAGATCC	0.383000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	163					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41223222	41223222	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41223222A>G	ENST00000309486.4	-	14	4848	c.3821T>C	c.(3820-3822)cTc>cCc	p.L1274P	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.L61P|BRCA1_ENST00000352993.3_Missense_Mutation_p.L428P|BRCA1_ENST00000468300.1_Missense_Mutation_p.L466P|BRCA1_ENST00000471181.2_Missense_Mutation_p.L1591P|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.L466P|BRCA1_ENST00000493795.1_Missense_Mutation_p.L1523P|BRCA1_ENST00000351666.3_Missense_Mutation_p.L387P|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.L1570P	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1570					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATCAGAGAAGAGGCTGATTCC	0.453000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	131					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048086	9048086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9048086G>A	ENST00000397910.4	-	5	33748	c.33545C>T	c.(33544-33546)tCa>tTa	p.S11182L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11184	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						GGTGACCAATGAAGTTGTGGT	0.458000													3	24					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900183	202900183	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:202900183C>T	ENST00000286201.1	+	1	874	c.813C>T	c.(811-813)acC>acT	p.T271T		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	271					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTCTTTACCGTTCTCACCT	0.637000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	287					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380580	147380580	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:147380580C>T	ENST00000240986.4	+	2	551	c.498C>T	c.(496-498)atC>atT	p.I166I	GJA8_ENST00000369235.1_Silent_p.I166I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	166					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGGGCTTCATCGTGGGCCACT	0.607000													22	189					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:151124224G>A	ENST00000370325.1	-	7	946	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_ENST00000370328.3_Missense_Mutation_p.S298F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCAAAAGGAAACCCAGGA	0.512000													11	68					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89850978	89850978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:89850978G>A	ENST00000370456.4	+	11	1945	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S	GBP6_ENST00000535065.1_Missense_Mutation_p.G488S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	618							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AATTGGTCATGGTGTCAAAGG	0.378000													13	80					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945257	72945257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:72945257G>A	ENST00000311131.2	+	3	520	c.53G>A	c.(52-54)gGg>gAg	p.G18E	P2RY2_ENST00000393597.2_Missense_Mutation_p.G18E|P2RY2_ENST00000393596.2_Missense_Mutation_p.G18E	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	18					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACCTGGGATGGGGATGAGCTG	0.637000													7	89					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191299	6191299	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6191299G>A	ENST00000530810.1	-	1	339	c.258C>T	c.(256-258)atC>atT	p.I86I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCAAAAGATGGCTAGGG	0.493000													11	112					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432378	104432378	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:104432378C>T	ENST00000361820.3	-	3	2916	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	772					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)	CTTCATAGATCTTCTCACCTA	0.393000													4	61					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146108125	146108125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:146108125C>T	ENST00000292579.7	-	6	574	c.458G>A	c.(457-459)aGg>aAg	p.R153K	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.R148K	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGATCAATCCTCCCCAAGGG	0.433000													15	179					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048914	143048914	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143048914C>T	ENST00000343257.2	+	23	2910	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	941					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)					CCCCTCTCTCCCTGGCCCCAG	0.662000													4	57					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415820	130415820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:130415820C>T	ENST00000370904.1	-	14	2228	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	IGSF1_ENST00000370910.1_Missense_Mutation_p.E440K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E449K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E449K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	449	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGAGAAAATTCCAGTACTGGA	0.473000													4	24					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279836	152279836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152279836C>T	ENST00000368799.1	-	3	7561	c.7526G>A	c.(7525-7527)gGa>gAa	p.G2509E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2509	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGAGTGCCC	0.557000									Ichthyosis				49	531					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260126	28260126	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28260126C>T	ENST00000305242.5	-	8	1145	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	ARMC4_ENST00000239715.3_Silent_p.L208L|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.L43L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	351							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTTCTTCTCCAGTGACCTTT	0.428000													3	58					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826179	23826179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:23826179C>T	ENST00000354639.3	+	19	2722	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I	STK31_ENST00000428484.1_Missense_Mutation_p.T753I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.T776I|STK31_ENST00000433467.2_Missense_Mutation_p.T776I	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	776	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAGCAGCCACCTACCATAGA	0.423000													5	55					0	0	1	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22682155	22682155	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:22682155G>A	ENST00000390291.2	+	0	388																											CAAAGCATGGGATAACAGCCT	0.572000													8	108					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7571947	7571947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7571947G>A	ENST00000361664.2	+	8	1354	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	405										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCCAGAATTCGATTTTTTAAC	0.577000													4	35					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101477456	101477456	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101477456G>A	ENST00000392979.3	+	15	1652	c.1290_splice	c.e15-1	p.E431_splice	ANO4_ENST00000550015.1_Intron|ANO4_ENST00000392977.3_Splice_Site_p.E466_splice|ANO4_ENST00000299222.9_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	466						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCCTTTAGGAAGAAATACG	0.378000										HNSCC(74;0.22)			13	70					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497063	149497063	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149497063C>T	ENST00000378016.2	+	0	7103							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGTGCCCCCACACCCTGTG	0.617000													4	92					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019733	131019733	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131019733G>A	ENST00000421699.2	-	25	2721	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	903						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGCTGCCAGGAATCTGCCAT	0.647000													6	40					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319775	21319775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:21319775C>T	ENST00000583088.1	+	3	2016	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S374F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGCGCCAACTCCTTCTGCTAC	0.632000										Prostate(3;0.18)			6	85					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508020	149508020	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149508020C>T	ENST00000378016.2	+	0	9414							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGTGTGCCCACCCAGGACT	0.617000													9	69					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125076686	125076686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:125076686C>T	ENST00000522917.1	+	26	3633	c.3427C>T	c.(3427-3429)Ccc>Tcc	p.P1143S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1143S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1143						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGCCACCTCCCACAGTGGT	0.587000													16	137					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38886289	38886289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38886289C>T	ENST00000274276.3	+	7	1390	c.988C>T	c.(988-990)Cga>Tga	p.R330*	OSMR_ENST00000502536.1_Nonsense_Mutation_p.R330*	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	330					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCTGACTCATCGAGGTGAGAC	0.408000													4	72					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55182888	55182888	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:55182888C>T	ENST00000337714.3	+	2	296	c.63C>T	c.(61-63)ggC>ggT	p.G21G	AKAP1_ENST00000539273.1_Silent_p.G21G|AKAP1_ENST00000572557.1_Silent_p.G21G|AKAP1_ENST00000571629.1_Silent_p.G21G|AKAP1_ENST00000314126.3_Silent_p.G21G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	21					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGCTCCTCGGCTGGTGGTGGT	0.577000													4	48					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164190	72164190	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72164190C>T	ENST00000537465.1	-	12	1877	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	PMFBP1_ENST00000237353.10_Silent_p.K568K|PMFBP1_ENST00000355636.6_Silent_p.K423K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	573										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCTCTTTTCCTTGTCTGAAT	0.473000													6	68					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47581688	47581688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47581688C>T	ENST00000285039.7	-	2	387	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	30	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTTGTAGTCCTTGGTTAAC	0.527000													8	85					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183245366	183245366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:183245366G>A	ENST00000511685.1	+	2	316	c.193G>A	c.(193-195)Gat>Aat	p.D65N	TENM3_ENST00000406950.2_Missense_Mutation_p.D65N					teneurin transmembrane protein 3																		CAGAGTGAAGGATTTGGTTCA	0.478000													6	60					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6692978	6692978	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6692978C>A	ENST00000245907.6	-	26	3439	c.3347G>T	c.(3346-3348)gGg>gTg	p.G1116V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1116					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGAAGACCCCGTCGGGCTT	0.552000													11	163					0.00010058	0.000101305	1	1	0
HK3	3101	broad.mit.edu	37	5	176318112	176318112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:176318112C>T	ENST00000292432.5	-	4	431	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	114	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATGCCCCTCAATGCCAGTT	0.612000													6	91					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469289	72469289	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:72469289C>T	ENST00000296776.5	+	1	268	c.219C>T	c.(217-219)ctC>ctT	p.L73L	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	73						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGACCCAGCTCCTTGGGCCCG	0.507000													13	63					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074122	8074122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:8074122C>T	ENST00000075120.7	-	10	1618	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	460					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CGTGTGATATCCTCAAAAGTC	0.502000													7	160					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439598	43439598	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43439598C>T	ENST00000446844.3	-	0	477				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CCTCCAGTCCCATCACCTCGC	0.488000													63	330					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174567	51174567	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174567C>T	ENST00000440970.1	-	2	1706	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.T522T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	522					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCAGTACTCGTGGGGATAT	0.517000													16	141					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402423	47402423	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47402423C>T	ENST00000310638.4	-	4	454	c.423G>A	c.(421-423)caG>caA	p.Q141Q	CYP4A11_ENST00000371904.4_Silent_p.Q141Q|CYP4A11_ENST00000371905.1_Silent_p.Q141Q|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Silent_p.Q37Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	141					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCCGTCGATGCTGGAACCATG	0.537000													15	62					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518964	129518964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:129518964C>T	ENST00000276218.2	-	1	547	c.458G>A	c.(457-459)gGg>gAg	p.G153E		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	153						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GCTGCACTGCCCTTTGTAGGC	0.557000													8	33					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588924	119588924	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:119588924C>T	ENST00000267260.4	+	10	1567	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	393	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCGCAGCTCCTCCTATGCCA	0.567000													4	104					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081276	54081276	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:54081276G>A	ENST00000394705.2	-	2	888	c.618C>T	c.(616-618)ctC>ctT	p.L206L	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	206						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CGACCACATAGAGAGACAAAA	0.507000													11	90					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:30935403G>A	ENST00000355537.3	+	2	1081	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTTCGCAGGAGGAGGAGCT	0.642000													10	214					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493570	150493570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150493570C>T	ENST00000447204.2	-	2	460	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TMEM176B_ENST00000492607.1_Missense_Mutation_p.E30K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E30K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E30K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E30K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E30K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	30					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCTGACTCCTGGTGGATG	0.532000													10	69					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131334539	131334539	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131334539A>G	ENST00000306010.7	+	2	148	c.116A>G	c.(115-117)aAa>aGa	p.K39R		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	39										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TGTGAAATGAAACGCACCACA	0.453000								Direct reversal of damage					8	115					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319695	21319695	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:21319695G>A	ENST00000583088.1	+	3	1936	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	KCNJ12_ENST00000331718.5_Silent_p.K347K	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACTTCCACAAGACCTATGAGG	0.567000										Prostate(3;0.18)			9	206					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52541961	52541961	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52541961G>A	ENST00000321725.6	+	20	2143	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	689					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTTCCCCAAGGAGTGTGTCT	0.577000													12	166					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811791	91811791	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:91811791G>A	ENST00000394232.1	+	9	1799	c.1329G>A	c.(1327-1329)acG>acA	p.T443T	SV2B_ENST00000545111.2_Silent_p.T292T|SV2B_ENST00000330276.4_Silent_p.T443T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	443					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCAACTTCACGATGGAAAATC	0.438000													6	96					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439807	110439807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:110439807G>A	ENST00000519681.1	+	17	1851	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	PAK3_ENST00000417227.1_Missense_Mutation_p.G470E|PAK3_ENST00000360648.4_Missense_Mutation_p.G485E|PAK3_ENST00000262836.4_Missense_Mutation_p.G464E|PAK3_ENST00000518291.1_Missense_Mutation_p.G485E|PAK3_ENST00000425146.1_Missense_Mutation_p.G449E|PAK3_ENST00000372010.1_Missense_Mutation_p.G464E|PAK3_ENST00000372007.4_Missense_Mutation_p.G449E|PAK3_ENST00000446737.1_Missense_Mutation_p.G449E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	464	Protein kinase.				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						TGGTCTCTTGGAATTATGGCA	0.443000										TSP Lung(19;0.15)			7	31					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67189323	67189323	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:67189323G>A	ENST00000269081.4	-	16	2617	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	570	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGCTCCTTCAGGAGGCTCCAC	0.458000													4	82					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7768995	7768995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:7768995G>A	ENST00000358415.4	+	10	1233	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	ITIH2_ENST00000379587.4_Missense_Mutation_p.R345Q	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	356	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAACATTCGAACTTGGAGA	0.403000													9	91					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794908	55794908	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55794908T>A	ENST00000379665.2	+	1	695	c.596T>A	c.(595-597)tTg>tAg	p.L199*		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGGCATTTTTGCTAGCAGTA	0.438000													16	224					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040037	239040037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:239040037G>A	ENST00000343063.3	+	9	2945	c.2682G>A	c.(2680-2682)tgG>tgA	p.W894*	ESPNL_ENST00000409169.1_Nonsense_Mutation_p.W850*|ESPNL_ENST00000409506.1_Nonsense_Mutation_p.W526*|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	894										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCACGGCTGGGAGGCTGTGC	0.687000													3	12					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320319	56320319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56320319G>A	ENST00000443188.1	-	5	2367	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	NLRP11_ENST00000592953.1_Missense_Mutation_p.R454W|NLRP11_ENST00000589824.2_Missense_Mutation_p.R553W|NLRP11_ENST00000360133.3_Missense_Mutation_p.R553W|NLRP11_ENST00000589093.1_Missense_Mutation_p.R553W	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	553							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTTCTTCCCGATTCTCATAG	0.433000													11	87					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236591	42236591	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42236591C>T	ENST00000541110.1	-	5	1306	c.738G>A	c.(736-738)caG>caA	p.Q246Q	TRERF1_ENST00000354325.2_Silent_p.Q246Q|TRERF1_ENST00000340840.2_Silent_p.Q246Q|TRERF1_ENST00000372917.4_Silent_p.Q246Q|TRERF1_ENST00000372922.4_Silent_p.Q246Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	246	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGTCCTCCCTGCACTGGCA	0.607000													6	83					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021292	30021292	+	Silent	SNP	C	C	T	rs148944042		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:30021292C>T	ENST00000350119.4	-	2	442	c.252G>A	c.(250-252)tcG>tcA	p.S84S	DOC2A_ENST00000564944.1_Silent_p.S84S|DOC2A_ENST00000564979.1_Silent_p.S84S	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	84	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGGCATCATCCGAGTCATAGC	0.701000													8	92					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955730	54955730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:54955730G>A	ENST00000173898.7	+	12	2685	c.2573G>A	c.(2572-2574)gGc>gAc	p.G858D	TRO_ENST00000420798.2_Missense_Mutation_p.G389D|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G461D|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	858	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ACCACGGCTGGCTTTAGTGGT	0.572000													4	20					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405798	113405798	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113405798C>T	ENST00000228928.7	+	14	3102	c.2923C>T	c.(2923-2925)Ctg>Ttg	p.L975L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	975	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCTGGAACTCCTGACTGTGTA	0.582000													5	67					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52992707	52992707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52992707C>T	ENST00000293745.2	-	2	701	c.616G>A	c.(616-618)Gat>Aat	p.D206N	KRT72_ENST00000537672.2_Missense_Mutation_p.D206N|KRT72_ENST00000398066.3_Missense_Mutation_p.D18N|KRT72_ENST00000354310.4_Missense_Mutation_p.D206N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCCACCAAATCCTGCATGTTC	0.517000													18	303					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39032652	39032652	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39032652G>A	ENST00000167588.3	-	8	1277	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	412	Tail.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CAGATGACACGACCTTGCCAT	0.353000													13	153					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314173	58314173	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:58314173G>A	ENST00000219301.4	-	7	1537	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PRSS54_ENST00000543437.1_Silent_p.I282I|PRSS54_ENST00000567164.1_Silent_p.I381I|CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	381					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAACCAAGATGATTTCTTCGG	0.478000													5	82					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58589330	58589330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:58589330G>A	ENST00000317147.5	-	21	3048	c.2716C>T	c.(2716-2718)Cct>Tct	p.P906S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P901S|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.P906S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	906					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCTTTATCAGGATACTGGGGA	0.383000													6	113					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652141	15652141	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:15652141C>T	ENST00000262041.5	-	3	1195	c.786G>A	c.(784-786)gtG>gtA	p.V262V		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	262					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCCCTTTTTCACATTCACCA	0.517000													15	126					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638937	55638937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55638937G>A	ENST00000370830.3	-	4	1635	c.937C>T	c.(937-939)Cga>Tga	p.R313*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.R313*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R313*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCACGGATCGAAGAAGTACC	0.458000													11	81					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56098188	56098188	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:56098188T>C	ENST00000426658.2	-	2	1351	c.690A>G	c.(688-690)caA>caG	p.Q230Q	CTCFL_ENST00000432255.2_Silent_p.Q230Q|CTCFL_ENST00000422869.2_Silent_p.Q230Q|CTCFL_ENST00000433949.2_Silent_p.Q230Q|CTCFL_ENST00000423479.2_Silent_p.Q230Q|CTCFL_ENST00000371196.2_Silent_p.Q230Q|CTCFL_ENST00000422109.2_Silent_p.Q230Q|CTCFL_ENST00000243914.3_Silent_p.Q230Q|CTCFL_ENST00000539382.1_Silent_p.Q25Q|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Silent_p.Q230Q			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	230					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGCTGTAGGTTGATCCTCTT	0.393000													11	169					0	0	1	0	0
CHIAP2	149620	broad.mit.edu	37	1	111826748	111826748	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:111826748C>T	ENST00000369743.4	+	0	1458					NR_003928.1																						ATGTTGGATTCCCAGCCTATG	0.542000													4	26					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175228	55175228	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55175228C>T	ENST00000391736.1	+	5	402	c.87C>T	c.(85-87)ccC>ccT	p.P29P	LILRB4_ENST00000430952.2_Silent_p.P29P|LILRB4_ENST00000391734.3_Silent_p.P29P|LILRB4_ENST00000270452.2_Silent_p.P29P|LILRB4_ENST00000391733.3_Silent_p.P29P	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCCCCAAACCCACCCTCTGGG	0.622000													10	94					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30095004	30095004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:30095004C>T	ENST00000279387.7	+	7	674	c.506C>T	c.(505-507)cCc>cTc	p.P169L	PPP4C_ENST00000561610.1_Missense_Mutation_p.P169L	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	169					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGCCTCTCCCCCTCCATCCAG	0.617000													4	109					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453161	9453161	+	Missense_Mutation	SNP	G	G	A	rs138021555	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9453161G>A	ENST00000393883.2	+	6	1682	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R265Q|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R409Q|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R345Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R345Q(2)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AAACACAGGCGAACTCACACT	0.413000													5	44					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139819010	139819010	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139819010C>T	ENST00000397560.2	-	9	1246	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	JHDM1D_ENST00000006967.5_Silent_p.E383E	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		383	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTTTCTCCATCTCATAACACC	0.313000													13	102					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8008883	8008883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:8008883C>T	ENST00000537635.1	+	1	447	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EIF3F_ENST00000533626.1_5'UTR|EIF3F_ENST00000309828.4_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCCGCCTCCTTCTTTCTC	0.562000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	301					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96110005	96110005	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96110005G>A	ENST00000371361.3	-	9	1093	c.993C>T	c.(991-993)tcC>tcT	p.S331S	NOC3L_ENST00000543788.1_Silent_p.S69S|NOC3L_ENST00000371350.1_Silent_p.S331S|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	331						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCCTTTAAGGAAACTACAT	0.378000													14	129					0	0	1	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979775	12979775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12979775G>A	ENST00000361079.2	+	4	1050	c.967G>A	c.(967-969)Gag>Aag	p.E323K						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAATTAAAGGAGCTGGACCT	0.577000													10	179					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101447346	101447346	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101447346C>T	ENST00000554693.2	+	0	635				SNORD114-20_ENST00000365178.1_RNA																							TCCTGTGGATCGATGATGACT	0.378000													6	135					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536121	79536121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:79536121G>A	ENST00000374747.5	-	14	1499	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L	NPLOC4_ENST00000331134.6_Missense_Mutation_p.P457L|NPLOC4_ENST00000539314.1_Missense_Mutation_p.P296L			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	457					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGATCCTTGGGGAAAGTTGT	0.433000													6	50					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324301	7324301	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7324301C>T	ENST00000318881.6	+	2	414	c.177C>T	c.(175-177)gtC>gtT	p.V59V	SYT9_ENST00000396716.2_Silent_p.V27V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	59						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCTTGTGGTCACTGCCTGTG	0.552000													9	113					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536811	146536811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:146536811G>A	ENST00000361727.3	+	3	733	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	73	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTGCTGGGGGATGGTCTCC	0.428000										HNSCC(39;0.1)			8	91					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833536	61833536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61833536C>T	ENST00000280772.1	-	37	7294	c.7103G>A	c.(7102-7104)gGa>gAa	p.G2368E	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2368					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTAATATCTCCCCGGGATAA	0.388000													4	80					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454514	66454514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66454514C>T	ENST00000533211.1	-	36	7178	c.6847G>A	c.(6847-6849)Ggc>Agc	p.G2283S	SPTBN2_ENST00000309996.2_Missense_Mutation_p.G2283S|SPTBN2_ENST00000529997.1_Missense_Mutation_p.G2283S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2283	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCGACGCTGCCCTGGGCCCTG	0.612000													17	165					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702837	27702837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27702837G>A	ENST00000438700.3	-	1	460	c.343C>T	c.(343-345)Cac>Tac	p.H115Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	115					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGTCGGTGTGACAGCGGTGC	0.697000													5	46					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873536	2873536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2873536G>A	ENST00000586426.1	+	2	133	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF556_ENST00000307635.2_Missense_Mutation_p.E16K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCACGCTGGAGGAGTGGGC	0.483000													14	102					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:151870060C>T	ENST00000329342.5	+	3	975	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000													32	108					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087336	5087336	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:5087336G>A	ENST00000399604.4	-	1	356	c.216C>T	c.(214-216)atC>atT	p.I72I	ZNF594_ENST00000575779.1_Silent_p.I72I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTTTCTGGGGGATAATATGCA	0.448000													15	117					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116037780	116037780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:116037780C>T	ENST00000603594.1	+	7	995	c.674C>T	c.(673-675)tCg>tTg	p.S225L	VWA2_ENST00000392982.3_Missense_Mutation_p.S225L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	225						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTCAGCAGCTCGGCCATCTGC	0.647000													8	51					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100711595	100711595	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:100711595C>T	ENST00000360820.2	+	10	1724	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	429					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTTAATTTTCCTACAAAAAA	0.333000													5	31					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134339	27134339	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:27134339T>A	ENST00000343060.4	-	2	789	c.728A>T	c.(727-729)gAa>gTa	p.E243V	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	243						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTCTCCAGTTCCGTGAGCTG	0.582000													17	173					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866417	215866417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:215866417G>A	ENST00000272895.7	-	21	2947	c.2728C>T	c.(2728-2730)Cag>Tag	p.Q910*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Q592*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	910					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGTTAAGCTGATCGATGATG	0.363000													3	50					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853798	35853798	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35853798C>T	ENST00000377988.2	+	13	2668	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	TMEM8B_ENST00000377991.4_Silent_p.G460G	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	460					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GCCTCGTGGGCCCAGGAGGGG	0.637000													13	49					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417792	169417792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169417792C>T	ENST00000305747.6	+	3	954	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	CERS6_ENST00000392687.4_Nonsense_Mutation_p.Q123*	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	123						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AAGACGCAATCAGGAGAAGCC	0.463000													4	101					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61527623	61527623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61527623G>A	ENST00000266070.4	-	8	2501	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	DIDO1_ENST00000395335.2_Missense_Mutation_p.R726C|DIDO1_ENST00000395340.1_Missense_Mutation_p.R726C|DIDO1_ENST00000395343.1_Missense_Mutation_p.R726C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	726	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATGATGCTGCGATATTTACTC	0.418000													19	129					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105397281	105397281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:105397281G>A	ENST00000264122.4	-	17	2884	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	CBLB_ENST00000407712.1_Missense_Mutation_p.P70S|CBLB_ENST00000394027.3_Missense_Mutation_p.P833S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	855	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTACCTGAAGGAAGAAGAAAA	0.423000			Mis S		AML								8	46					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984787	85984787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:85984787G>A	ENST00000372113.4	-	2	199	c.194C>T	c.(193-195)tCa>tTa	p.S65L	LRIT2_ENST00000538192.1_Missense_Mutation_p.S65L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	65						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAATAAGGGTGAATTTTCAAT	0.448000													8	95					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231659	29231659	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29231659G>A	ENST00000441381.1	+	0	130																											AAAGATCCAAGATAGCCAGAT	0.388000													14	160					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48310173	48310173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:48310173C>T	ENST00000354698.3	+	4	1064	c.992C>T	c.(991-993)tCg>tTg	p.S331L	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	331					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGAGAAATCGTTTATGTGC	0.502000													13	142					0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48963707	48963707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:48963707C>T	ENST00000549817.1	-	1	142	c.97G>A	c.(97-99)Gac>Aac	p.D33N	LALBA_ENST00000301046.2_Missense_Mutation_p.D33N			P00709	LALBA_HUMAN	lactalbumin, alpha-	33					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CCATCTATGTCTTTCAGCAGC	0.502000													5	37					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84417585	84417585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:84417585G>A	ENST00000428679.2	-	2	655	c.62C>T	c.(61-63)gCt>gTt	p.A21V	SNAP91_ENST00000195649.6_Missense_Mutation_p.A21V|SNAP91_ENST00000521485.1_Missense_Mutation_p.A21V|SNAP91_ENST00000520213.1_Missense_Mutation_p.A21V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A21V|SNAP91_ENST00000439399.2_Missense_Mutation_p.A21V|SNAP91_ENST00000437520.1_Missense_Mutation_p.A21V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A21V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A21V			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	21	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCTTGCTACAGCAGAGCCTGT	0.542000													5	57					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153670591	153670591	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:153670591C>T	ENST00000447750.2	+	9	1460	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	375					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTTGGAGCCCATTGACCAGA	0.627000													12	76					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324309	158324309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158324309G>A	ENST00000368160.3	+	2	201	c.201G>A	c.(199-201)tgG>tgA	p.W67*	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.W67*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.W67*|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Nonsense_Mutation_p.W65*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.W67*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.W67*|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368163.3_Nonsense_Mutation_p.W67*|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Nonsense_Mutation_p.W67*	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	67					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCATGGCTGGGACACTGTCT	0.542000													5	65					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481049	140481049	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140481049A>G	ENST00000231130.2	+	1	816	c.816A>G	c.(814-816)ggA>ggG	p.G272G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		272	Cadherin 3.				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)			TAGATACAGGAAGTTTTGGGA	0.403000													10	106					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186002	114186002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:114186002C>T	ENST00000297405.5	-	4	902	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSMD3_ENST00000343508.3_Missense_Mutation_p.A180T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A220T|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.A220T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	220	Sushi 1.					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						ACTGAATTGGCTATGCAGGTG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	94					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101759870	101759870	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:101759870A>G	ENST00000251127.6	-	22	2628	c.2547T>C	c.(2545-2547)ttT>ttC	p.F849F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	849						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACCCGGCAAAAGTTTCTGA	0.507000													9	72					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	78					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453618	138453618	+	Splice_Site	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138453618A>T	ENST00000310018.2	-	5	480	c.196_splice	c.e5-1	p.R66_splice	ATP6V0A4_ENST00000393054.1_Splice_Site_p.R66_splice|ATP6V0A4_ENST00000353492.4_Splice_Site_p.R66_splice|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	66					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTTCCAGAAAACCTGAAGAAT	0.458000													6	39					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346903	48346903	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:48346903C>T	ENST00000319856.4	+	1	432	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGTTGAGATCATTCTGCTCA	0.478000													9	185					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110163659	110163659	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:110163659C>T	ENST00000256578.3	+	1	384	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000528667.1_Silent_p.L8L|AMPD2_ENST00000526301.1_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	8					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGGGCCTCTTCCGCCTGC	0.672000													10	58					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696146	107696146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107696146C>T	ENST00000388781.3	-	25	3769	c.3686G>A	c.(3685-3687)aGg>aAg	p.R1229K	LAMB4_ENST00000388780.3_Missense_Mutation_p.R1229K|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1229K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1229	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTCAAAATCCTTTCTATTTC	0.408000													7	75					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40708576	40708576	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40708576C>T	ENST00000454349.2	+	18	4714	c.4503C>T	c.(4501-4503)acC>acT	p.T1501T	TNRC6B_ENST00000402203.1_Silent_p.T697T|TNRC6B_ENST00000335727.8_Silent_p.T1391T|TNRC6B_ENST00000301923.9_Silent_p.T697T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1501					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCTATGTCACCCCAGGAAGTG	0.478000													32	247					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903669	20903669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:20903669G>A	ENST00000381552.1	+	14	2227	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G571E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G502E|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G620E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G620E			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	620					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTCAAATGGGGATTTAAAAGA	0.373000													9	79					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469918	52469918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52469918G>A	ENST00000231721.2	-	16	2049	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	684					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGCTCCGGAGGGAACAGGTTG	0.642000													11	127					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120430338	120430338	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:120430338C>T	ENST00000259526.3	+	3	578	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	117	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTCATCTACCGCAGTGGAG	0.493000													7	75					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985637	61985637	+	Silent	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:61985637T>G	ENST00000409186.1	-	5	4700	c.2595A>C	c.(2593-2595)atA>atC	p.I865I	PCDH20_ENST00000409204.4_Silent_p.I865I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	838					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTTCTCCTCTATATTAATCT	0.398000													4	44					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294253	128294253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:128294253C>T	ENST00000368227.3	-	30	4600	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	PTPRK_ENST00000368215.3_Missense_Mutation_p.E1394K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E1401K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1427K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E1413K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1417K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E1395K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1394	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1395K(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCACCATTTCAACAACGATG	0.468000													12	123					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717589	139717589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139717589C>T	ENST00000263552.6	+	16	2024	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000425687.1_Missense_Mutation_p.H428Y|TBXAS1_ENST00000448866.1_Missense_Mutation_p.H495Y|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000458722.1_Missense_Mutation_p.H541Y|TBXAS1_ENST00000336425.5_Missense_Mutation_p.H495Y|TBXAS1_ENST00000436047.2_Missense_Mutation_p.H496Y|TBXAS1_ENST00000416849.2_Missense_Mutation_p.H542Y	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	495					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|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|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GACACTGCTCCACGTGCTGCA	0.692000													16	159					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696648	150696648	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:150696648G>A	ENST00000335244.4	-	10	1311	c.1180_splice	c.e10-1	p.C394_splice	SLC36A2_ENST00000450886.1_Splice_Site_p.C118_splice	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	394					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCAGGAGGCCTGCAGGGA	0.602000													3	35					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657112	143657112	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143657112C>T	ENST00000392899.1	+	1	86	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTCCTCGGCCTGTCCAGTGA	0.453000													14	197					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9776047	9776047	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:9776047C>T	ENST00000536656.1	+	5	719	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	PIK3CD_ENST00000377346.4_Silent_p.L171L|PIK3CD_ENST00000361110.2_Silent_p.L171L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	171					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCCTGCAGCTGGAGCCCTC	0.667000													4	23					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51851172	51851172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:51851172C>T	ENST00000581310.1	-	9	926	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	STARD6_ENST00000307844.3_Missense_Mutation_p.E185K|STARD6_ENST00000580990.2_Missense_Mutation_p.E61K			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	185	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATGGTTTTTTCAATTATTGAT	0.358000													5	36					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773938	229773938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:229773938C>T	ENST00000258243.2	+	4	3714	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1193						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAACTGCATCCCAAAAAGGAC	0.448000													11	128					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184587497	184587497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:184587497G>A	ENST00000334690.6	+	3	494	c.292G>A	c.(292-294)Gtt>Att	p.V98I	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.V98I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	98																	AGCCCTGGTGGTTGTGTTCTA	0.463000													7	105					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171076846	171076846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171076846G>A	ENST00000367755.4	+	4	463	c.352G>A	c.(352-354)Gat>Aat	p.D118N	FMO3_ENST00000392085.2_Missense_Mutation_p.D118N|FMO3_ENST00000538429.1_Missense_Mutation_p.D55N|FMO3_ENST00000542847.1_Missense_Mutation_p.D98N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	118					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAACATCCTGATTTTGCAAC	0.383000													3	35					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083329	91083329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:91083329C>T	ENST00000420329.2	+	2	338	c.191C>T	c.(190-192)cCa>cTa	p.P64L	CRTC3_ENST00000560098.1_Missense_Mutation_p.P64L|CRTC3_ENST00000268184.6_Missense_Mutation_p.P64L|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	64	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGATCCTTACCAAATGTGAGC	0.433000			T	MAML2	salivary gland mucoepidermoid								6	67					0	0	1	0	0
ZFP1	162239	broad.mit.edu	37	16	75203589	75203589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:75203589C>T	ENST00000393430.2	+	4	705	c.581C>T	c.(580-582)tCc>tTc	p.S194F	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.S161F|ZFP1_ENST00000570010.1_Missense_Mutation_p.S194F			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAGGCTTTCTCCTTTAAGTCA	0.373000													7	41					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246452	56246452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:56246452C>T	ENST00000361673.3	-	4	1769	c.1556G>A	c.(1555-1557)aGa>aAa	p.R519K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	519							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCCCCCACTCTCTTGTCAGC	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	234					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792875	143792875	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143792875G>A	ENST00000408949.2	+	1	735	c.675G>A	c.(673-675)ttG>ttA	p.L225L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGGCCATCTTGAGGATCCAGT	0.587000													19	217					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	214012511	214012511	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:214012511C>T	ENST00000457361.1	-	3	228	c.60G>A	c.(58-60)agG>agA	p.R20R	IKZF2_ENST00000442445.1_Silent_p.R26R|IKZF2_ENST00000451136.2_Silent_p.R20R|IKZF2_ENST00000374319.4_Silent_p.R20R|IKZF2_ENST00000434687.1_Silent_p.R20R|IKZF2_ENST00000342002.2_Silent_p.R26R|IKZF2_ENST00000413091.3_Silent_p.R20R|IKZF2_ENST00000374327.4_Silent_p.R20R|IKZF2_ENST00000421754.2_Silent_p.R20R	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGGAGTGCTCCCTTTCGGGTG	0.388000													21	218					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25637940	25637940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:25637940G>A	ENST00000330688.4	+	8	1601	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	RARB_ENST00000404969.1_Missense_Mutation_p.E401K|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.E282K|RARB_ENST00000437042.2_Missense_Mutation_p.E282K	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	401	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTGAAAATGGAAATTCCTGG	0.413000													11	85					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280189	110280189	+	Splice_Site	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:110280189G>C	ENST00000540225.1	-	8	779	c.468_splice	c.e8-1	p.L157_splice	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Splice_Site_p.L157_splice|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Splice_Site_p.L157_splice			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	157	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ACAAAGGTGAGCTAGAAGAAA	0.448000													8	65					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060423	144060423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144060423C>T	ENST00000056217.5	+	2	835	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	221					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AAGTCAAGGGCTCTTGCATCC	0.572000													9	315					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554712	19554712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:19554712C>T	ENST00000328405.2	+	13	2596	c.2330C>T	c.(2329-2331)aCc>aTc	p.T777I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	777						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCCCCAAAACCAAGCAGGAA	0.468000													4	48					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133418169	133418169	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:133418169T>A	ENST00000266880.7	-	19	2026	c.1963A>T	c.(1963-1965)Atc>Ttc	p.I655F	CHFR_ENST00000443047.2_Missense_Mutation_p.I564F|CHFR_ENST00000315585.7_Missense_Mutation_p.I615F|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000541341.1_Missense_Mutation_p.I83F|CHFR_ENST00000450056.2_Missense_Mutation_p.I644F|CHFR_ENST00000432561.2_Missense_Mutation_p.I656F|CHFR_ENST00000537522.1_Missense_Mutation_p.I278F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	656					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGTTCACAGATATGATTGAAT	0.418000													15	143					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313606	197313606	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197313606G>A	ENST00000367400.3	+	3	983	c.848_splice	c.e3+1	p.R283_splice	CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Splice_Site_p.R283_splice|CRB1_ENST00000535699.1_Splice_Site_p.R214_splice|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	283	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAGAAAACAGGTACATTTTC	0.483000													5	110					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981301	7981301	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7981301C>T	ENST00000543909.1	-	11	1503	c.745_splice	c.e11+1	p.R248_splice	SLC2A14_ENST00000539924.1_Splice_Site_p.R263_splice|SLC2A14_ENST00000340749.5_Splice_Site_p.R225_splice|SLC2A14_ENST00000431042.2_Splice_Site_p.R225_splice|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Splice_Site_p.R139_splice|SLC2A14_ENST00000542546.1_Splice_Site_p.R139_splice|SLC2A14_ENST00000396589.2_Splice_Site_p.R248_splice			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	248					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GATACTCACTCCGCGTAGCAT	0.438000													7	74					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011902	58011902	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:58011902T>G	ENST00000290871.5	+	2	384	c.347T>G	c.(346-348)cTt>cGt	p.L116R	TEPP_ENST00000441824.2_Missense_Mutation_p.L116R|TEPP_ENST00000569996.1_Intron	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	116						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AAGGCCTGCCTTCCTGATGAG	0.627000													4	55					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174417	51174417	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174417C>T	ENST00000440970.1	-	2	1856	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.T572T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	572					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGGCTCTTCCGTCTTGATGA	0.607000													7	83					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100365543	100365543	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100365543G>A	ENST00000542585.1	+	0	5098				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCTCTACACGAACTTTGGGC	0.602000													4	54					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361650	105361650	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105361650G>A	ENST00000297581.2	+	2	919	c.870G>A	c.(868-870)agG>agA	p.R290R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	290					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTAAAGAAAGGAAAAACCTGG	0.493000													6	80					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188435	135188435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:135188435G>A	ENST00000274513.5	+	4	518	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Missense_Mutation_p.V116I|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V62I|SLC25A48_ENST00000420621.1_Missense_Mutation_p.V116I			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	116					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGCCGGCGTGGTCTCTGTCGG	0.677000													3	41					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724001	140724001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140724001C>T	ENST00000253812.6	+	1	401	c.401C>T	c.(400-402)cCa>cTa	p.P134L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAATTTCCCAACAGAGGAA	0.333000													4	29					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48694934	48694934	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48694934T>C	ENST00000352832.5	+	27	5425		c.e27+2		CACNA1G_ENST00000505165.1_Splice_Site|CACNA1G_ENST00000514079.1_Splice_Site|CACNA1G_ENST00000515411.1_Splice_Site|CACNA1G_ENST00000507609.1_Splice_Site|CACNA1G_ENST00000507510.2_Splice_Site|CACNA1G_ENST00000515165.1_Splice_Site|CACNA1G_ENST00000515765.1_Splice_Site|CACNA1G_ENST00000503485.1_Splice_Site|CACNA1G_ENST00000514717.1_Splice_Site|CACNA1G_ENST00000359106.5_Splice_Site|CACNA1G_ENST00000429973.2_Splice_Site|CACNA1G_ENST00000512389.1_Splice_Site|CACNA1G_ENST00000513964.1_Splice_Site|CACNA1G_ENST00000354983.4_Splice_Site|CACNA1G_ENST00000442258.2_Splice_Site|CACNA1G_ENST00000358244.5_Splice_Site|CACNA1G_ENST00000513689.2_Splice_Site|CACNA1G_ENST00000360761.4_Splice_Site|CACNA1G_ENST00000510366.1_Splice_Site|CACNA1G_ENST00000510115.1_Splice_Site|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000514181.1_Splice_Site|CACNA1G_ENST00000507896.1_Splice_Site	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGCCCGAGGTTGGTGCCCAG	0.642000													7	59					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916897	42916897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:42916897C>T	ENST00000316161.4	-	1	736	c.412G>A	c.(412-414)Gat>Aat	p.D138N	CYP8B1_ENST00000437102.1_Missense_Mutation_p.D138N|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	138					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCATTAAGATCCTTCAAGCCA	0.517000													16	121					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40094894	40094894	+	RNA	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40094894A>G	ENST00000591658.1	+	0	778							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ACTCACAGCAACTTCTGGAGG	0.587000													10	185					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96264374	96264374	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:96264374T>C	ENST00000347108.3	-	9	1663	c.1231A>G	c.(1231-1233)Aat>Gat	p.N411D	DZIP1_ENST00000361396.2_Missense_Mutation_p.N411D|DZIP1_ENST00000376829.2_Missense_Mutation_p.N411D|DZIP1_ENST00000361156.3_Missense_Mutation_p.N411D			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	411					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			tagaaaacattgcttgcattt	0.413000													4	62					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111482565	111482565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:111482565G>A	ENST00000265162.5	+	20	3067	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	909					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTTCTAGATGGAGAGCTTTTT	0.368000													3	40					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179430	55179430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55179430C>T	ENST00000391736.1	+	14	1622	c.1307C>T	c.(1306-1308)cCa>cTa	p.P436L	LILRB4_ENST00000430952.2_Missense_Mutation_p.P435L|LILRB4_ENST00000391734.3_Missense_Mutation_p.P383L|LILRB4_ENST00000270452.2_Missense_Mutation_p.P436L|LILRB4_ENST00000391733.3_Missense_Mutation_p.P437L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	436						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGGGCCTCTCCAGCTGAGCCC	0.607000													14	122					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233271	28233271	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28233271C>T	ENST00000305242.5	-	12	1715	c.1623G>A	c.(1621-1623)gtG>gtA	p.V541V	ARMC4_ENST00000545014.1_Silent_p.V66V|ARMC4_ENST00000537576.1_Silent_p.V233V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	541							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAAGTATATTCACCATAATTG	0.418000													11	54					0	0	1	0	0
ARL3	403	broad.mit.edu	37	10	104459131	104459131	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:104459131A>G	ENST00000260746.5	-	3	394	c.264_splice	c.e3+1	p.L88_splice		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	88					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		AGTACTTACAAGAATATCGGT	0.363000													3	54					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991221	39991221	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:39991221A>C	ENST00000332312.3	-	4	1180	c.988T>G	c.(988-990)Tgt>Ggt	p.C330G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	330						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGCAGGTCACACTCACTCTGG	0.677000													4	20					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334163	102334163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102334163C>T	ENST00000395065.3	-	16	1465	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	NXF3_ENST00000425644.1_Missense_Mutation_p.G127E|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	455	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTGAACACCCCGTTGACAGA	0.587000													34	191					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980768	121980768	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121980768A>C	ENST00000498619.1	+	4	1324	c.886A>C	c.(886-888)Agc>Cgc	p.S296R	CASR_ENST00000296154.5_Missense_Mutation_p.S296R|CASR_ENST00000490131.1_Missense_Mutation_p.S296R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	296					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGGCTGGCCAGCGAGGCCTG	0.602000													6	80					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126161727	126161727	+	Silent	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:126161727C>A	ENST00000261366.5	+	9	1900	c.1539C>A	c.(1537-1539)ctC>ctA	p.L513L	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	513	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CAACTGACCTCATCTGGAAGA	0.507000													5	43					0.014758	0.014811	1	1	0
TAS2R38	5726	broad.mit.edu	37	7	141673423	141673423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141673423C>T	ENST00000547270.1	-	1	150	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	23					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)					AACTCCAGGACTGAAATGAAC	0.443000													8	109					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872876	15872876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:15872876C>T	ENST00000285670.2	-	7	1120	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SAMSN1_ENST00000400564.1_Missense_Mutation_p.E80K|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.E248K	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	248					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)		TCTAGGAACTCCTGCAGAGTC	0.428000													6	56					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188432	98188432	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98188432C>T	ENST00000357947.3	-	5	819	c.594G>A	c.(592-594)agG>agA	p.R198R	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	198	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCATCCGTCCTTTCTATGA	0.498000													4	61					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69969857	69969857	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:69969857C>T	ENST00000359154.2	+	18	2045	c.1944C>T	c.(1942-1944)gaC>gaT	p.D648D	WWP2_ENST00000568684.1_Silent_p.D209D|WWP2_ENST00000356003.2_Silent_p.D648D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.D532D|WWP2_ENST00000448661.1_Silent_p.D648D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	648	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTCCATTGACCCTGAGTTCT	0.547000													11	141					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609113	84609113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:84609113G>A	ENST00000344803.2	+	4	3775	c.3728G>A	c.(3727-3729)gGc>gAc	p.G1243D		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AATTCCCAGGGCATCTCGAGT	0.532000													33	280					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198992	58198992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58198992G>A	ENST00000282296.5	+	3	1534	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R434K|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATGAATGCAGAGAATGTGGG	0.428000													20	118					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350371	7350371	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7350371G>A	ENST00000306071.2	+	5	430	c.363G>A	c.(361-363)ggG>ggA	p.G121G	CHRNB1_ENST00000576360.1_Silent_p.G49G|CHRNB1_ENST00000536404.2_Silent_p.G49G	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	121					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GCAATGATGGGAATTTTGACG	0.667000													12	103					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560508	44560508	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44560508G>A	ENST00000332567.4	-	1	1480	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	376					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGGCTGCTCGAATTCCTCAG	0.507000													10	92					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873889	31873889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31873889C>T	ENST00000253354.1	+	2	171	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	4						extracellular space	lipid binding	p.P4T(1)									GATGGCCGGCCCGTGGACCTT	0.617000													13	164					0	0	1	0	0
RDH5	5959	broad.mit.edu	37	12	56115531	56115531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:56115531G>A	ENST00000257895.5	+	3	521	c.369G>A	c.(367-369)tgG>tgA	p.W123*	RDH5_ENST00000547072.1_Nonsense_Mutation_p.W26*|RDH5_ENST00000553160.1_Intron|RDH5_ENST00000548082.1_Nonsense_Mutation_p.W123*|RP11-644F5.10_ENST00000549424.1_3'UTR|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	123					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CCACACCATGGCTGACCCGGG	0.597000													6	80					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413170	24413170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24413170C>T	ENST00000330966.7	-	15	1927	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	MYOM3_ENST00000374434.3_Missense_Mutation_p.E588K|MYOM3_ENST00000329601.7_Missense_Mutation_p.E588K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	588	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCGCTGGGCTCCGAGGGATCG	0.627000													10	80					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526584	71526584	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:71526584G>A	ENST00000393330.2	-	10	1017	c.465C>T	c.(463-465)gtC>gtT	p.V155V	TSPAN8_ENST00000552128.1_Silent_p.V72V|TSPAN8_ENST00000546561.1_Silent_p.V155V|TSPAN8_ENST00000247829.3_Silent_p.V155V			P19075	TSN8_HUMAN	tetraspanin 8	155					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CAGCTCCATTGACCAAACCGC	0.353000													6	74					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30617617	30617617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:30617617G>A	ENST00000300415.8	+	9	1391	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR					cerebral cavernous malformation 2-like																		GCTCTACGGAGACCGGCGCAA	0.652000													15	96					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558604	140558604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140558604G>A	ENST00000239444.2	+	1	1234	c.989G>A	c.(988-990)gGa>gAa	p.G330E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		330	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTTTCTGGAAAATGCACC	0.428000													15	634					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769304	43769304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:43769304G>A	ENST00000389420.3	-	36	5323	c.5324C>T	c.(5323-5325)cCa>cTa	p.P1775L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1775	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATTGATATGGATTTTTTAG	0.348000													12	117					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064779	42064779	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:42064779G>A	ENST00000400454.1	-	3	942	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	155	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGACGACAGTGATGTACGCCT	0.522000													7	72					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069133	153069133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:153069133G>A	ENST00000164640.4	-	8	2176	c.1985C>T	c.(1984-1986)aCc>aTc	p.T662I	PDZD4_ENST00000544474.1_Missense_Mutation_p.T553I|PDZD4_ENST00000393758.2_Missense_Mutation_p.T587I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	662						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCGTCGTCGGTCGTCATACC	0.682000													14	47					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576445	111576445	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:111576445C>T	ENST00000261486.5	-	10	1134	c.858G>A	c.(856-858)aaG>aaA	p.K286K	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	286	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCACACTGCACTTCCAGAGGT	0.308000													5	52					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008252	16008252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16008252C>T	ENST00000221700.5	-	2	265	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R57Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	57					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAACCAGTTCCGTCTTGGGGG	0.617000													15	163					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22893200	22893200	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:22893200C>T	ENST00000543184.1	-	3	1195	c.333G>A	c.(331-333)gaG>gaA	p.E111E	PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000398743.2_Silent_p.E111E|PRAME_ENST00000424204.2_Silent_p.E95E|PRAME_ENST00000398741.1_Silent_p.E111E|PRAME_ENST00000402697.1_Silent_p.E111E|PRAME_ENST00000406503.1_Silent_p.E111E|PRAME_ENST00000405655.3_Silent_p.E111E|PRAME_ENST00000539862.1_Silent_p.E95E	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	111					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGGCGAACCTCCTGGGCAA	0.597000													14	169					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585523	43585523	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43585523G>A	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGGCTTCGCTGTCCCTGGGAT	0.512000													4	88					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675728	68675728	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:68675728C>T	ENST00000255078.3	+	3	483	c.372C>T	c.(370-372)ttC>ttT	p.F124F	IGHMBP2_ENST00000539224.1_Silent_p.F124F	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	124					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCACGATTTCCAGTTGAGCT	0.507000													12	110					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656203	69656203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:69656203G>A	ENST00000435070.2	+	9	1630	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	CPSF6_ENST00000456847.3_Missense_Mutation_p.R434Q|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.R544Q	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	507	Arg-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAAAAGAGTCGACGTCATAAA	0.453000													11	58					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010657	45010657	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:45010657C>T	ENST00000258787.7	-	8	984	c.846_splice	c.e8-1	p.G283_splice		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	283	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTCGATGTTTCCCTGGTGATG	0.582000													5	31					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077134	144077134	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144077134G>A	ENST00000056217.5	+	15	4953	c.4779G>A	c.(4777-4779)gtG>gtA	p.V1593V	ARHGEF5_ENST00000471847.2_Silent_p.V515V	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1593					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TACAGCTGGTGGAACAGCAAG	0.542000													7	101					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231187	7231187	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:7231187G>A	ENST00000383467.2	+	1	65	c.51G>A	c.(49-51)agG>agA	p.R17R		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	17										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCCCCAAGAGGATGCTGTTCA	0.632000													7	63					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575918	52575918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:52575918G>A	ENST00000395489.2	-	11	1364	c.968C>T	c.(967-969)tCt>tTt	p.S323F	A1CF_ENST00000374001.1_Missense_Mutation_p.S330F|A1CF_ENST00000373997.3_Missense_Mutation_p.S330F|A1CF_ENST00000373993.1_Missense_Mutation_p.S330F|A1CF_ENST00000395495.1_Missense_Mutation_p.S275F|A1CF_ENST00000282641.2_Missense_Mutation_p.S330F|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.S338F|ASAH2B_ENST00000483649.1_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	330					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGGCCCAAAGAGTAGGTATA	0.517000													4	39					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920507	4920507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4920507G>A	ENST00000433855.1	+	1	2166	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G434R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	434						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATGACTGTGGGGGGAAAGAT	0.577000										HNSCC(72;0.22)			19	124					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435454	7435454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:7435454G>A	ENST00000319098.4	-	1	1246	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	385					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TCCCACTCTGGGGACGGCACG	0.612000													8	82					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1667458	1667458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1667458C>T	ENST00000252804.4	-	12	1536	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	496	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCCTGGTCGTGGAGGGCA	0.622000													16	144					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34430547	34430547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:34430547C>T	ENST00000374012.3	+	3	265	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	PHF20_ENST00000439301.1_Missense_Mutation_p.H46Y|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGTACTCATCCATTTCAAGCG	0.423000													6	97					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874996	144874996	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:144874996G>A	ENST00000356994.2	-	30	4065	c.4059C>T	c.(4057-4059)tcC>tcT	p.S1353S	SCRIB_ENST00000377533.3_Silent_p.S1272S|SCRIB_ENST00000546337.1_5'UTR|SCRIB_ENST00000320476.3_Silent_p.S1353S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1353					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCCCGGAAGGACAGCTGCT	0.706000													6	34					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222291	100222291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:100222291G>A	ENST00000231461.5	-	3	569	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R87C|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	87					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTAAGAAACGAAGTATGTTC	0.388000													8	32					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72432951	72432951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:72432951G>A	ENST00000373517.3	-	1	1733	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R318C	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	460					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTGCTCTAACGATCAATGTCT	0.348000													5	19					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044645	119044645	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:119044645G>A	ENST00000334464.5	-	5	1838	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	533					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TAGCTCCAAGGGGTTTAATAG	0.413000													15	144					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070718	197070718	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197070718T>C	ENST00000367409.4	-	18	7919	c.7663A>G	c.(7663-7665)Aaa>Gaa	p.K2555E	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2555	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATAGAAGCTTTGTGTTTTTCC	0.338000													4	26					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088544	43088544	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:43088544G>A	ENST00000359467.3	-	5	1968	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	618						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACTTCTGGCAGAAGGTTTTTC	0.373000													5	91					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262875	248262875	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248262875C>T	ENST00000366478.2	+	3	535	c.198C>T	c.(196-198)tcC>tcT	p.S66S	OR2L13_ENST00000358120.2_Silent_p.S66S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			GCCAGCTCTCCCTTATGGACC	0.537000													5	172					0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086496	46086496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46086496G>A	ENST00000360770.3	-	1	348	c.308C>T	c.(307-309)tCc>tTc	p.S103F	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	103	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACGCACAGGGAGGACTGGCA	0.642000													4	89					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005881	74005881	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74005881G>A	ENST00000301607.3	-	22	3658	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	EVPL_ENST00000586740.1_Silent_p.I1157I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1135	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCCTTCACGATGACCTTGG	0.642000													6	44					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485640	60485640	+	Missense_Mutation	SNP	G	G	A	rs139577432	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:60485640G>A	ENST00000360469.5	+	9	1439	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	CDH4_ENST00000543233.1_Missense_Mutation_p.E377K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	451	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTAACCAACGAGGGCATGGT	0.592000													10	84					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689803	83689803	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:83689803C>T	ENST00000265362.3	-	5	839	c.525G>A	c.(523-525)ctG>ctA	p.L175L	SEMA3A_ENST00000436949.1_Silent_p.L175L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	175	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGCTGTCAGCAGCTTAGGGT	0.353000													29	245					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402102	45402102	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:45402102A>G	ENST00000389039.6	-	10	1502	c.1117T>C	c.(1117-1119)Tac>Cac	p.Y373H	DUOX2_ENST00000603300.1_Missense_Mutation_p.Y373H			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	373	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGAATCCAGTAGTTGTTGCAG	0.502000													11	103					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550168	31550168	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31550168C>T	ENST00000429299.2	-	1	34	c.27G>A	c.(25-27)agG>agA	p.R9R	LTB_ENST00000446745.2_Silent_p.R9R|LTB_ENST00000483972.1_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	9					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	GCCTCCCACCCCTGCCCTCCA	0.652000													5	53					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7252524	7252524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7252524C>T	ENST00000266542.4	-	4	681	c.589G>A	c.(589-591)Gag>Aag	p.E197K	C1RL_ENST00000544702.1_Missense_Mutation_p.E197K|C1RL_ENST00000545280.1_Missense_Mutation_p.E81K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	197					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAATAGGGCTCCTGGCAGTGG	0.612000													6	32					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842052	227842052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:227842052C>T	ENST00000343776.4	+	4	446	c.101C>T	c.(100-102)tCc>tTc	p.S34F	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.S89F			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	89					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTATCTTATTCCATTCAAGAC	0.299000													5	55					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105368387	105368387	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105368387G>A	ENST00000297581.2	+	4	1423	c.1374G>A	c.(1372-1374)agG>agA	p.R458R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	458					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AAATGATTAGGAAGAAGCAAA	0.448000													3	47					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681863	55681863	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55681863G>A	ENST00000344514.1	-	1	195	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGAAAGACAGATGACTGAGG	0.398000													5	70					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547238	36547238	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36547238G>A	ENST00000273183.3	+	8	1132	c.831_splice	c.e8-1	p.G278_splice	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Splice_Site_p.G217_splice	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	278					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						tctctttcAGGGATCTCTTTC	0.338000													5	26					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025618	16025618	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16025618A>G	ENST00000326742.7	-	9	1204	c.1203T>C	c.(1201-1203)tgT>tgC	p.C401C	CYP4F11_ENST00000402119.3_Silent_p.C401C|CYP4F11_ENST00000248041.7_Silent_p.C401C			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	401					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCTGCGTGCAACATCGGGAGA	0.622000													6	144					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132670237	132670237	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:132670237T>G	ENST00000370818.3	-	8	2103	c.1658A>C	c.(1657-1659)cAc>cCc	p.H553P	GPC3_ENST00000543339.1_Missense_Mutation_p.H499P|GPC3_ENST00000394299.2_Missense_Mutation_p.H576P	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	553						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCCGAGGTTGTGAAAGGTGCT	0.537000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				7	32					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223401022	223401022	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:223401022G>A	ENST00000343846.3	-	6	1608	c.975C>T	c.(973-975)ttC>ttT	p.F325F	SUSD4_ENST00000454695.2_Silent_p.F165F|SUSD4_ENST00000366878.4_Silent_p.F325F|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	325						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGTTGCCGTGAACGCCACAA	0.587000													3	42					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596669	142596669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:142596669G>A	ENST00000370503.2	-	2	484	c.401C>T	c.(400-402)tCt>tTt	p.S134F	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	134								p.S134C(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGTGAAGATCCTTCAGA	0.443000													4	42					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629518	1629518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1629518G>A	ENST00000399685.1	-	1	175	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	33						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		ACAGCAGCCGGAGCCACAGCC	0.677000													33	223					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55447703G>A	ENST00000588756.1	-	8	2712	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_ENST00000592784.1_Silent_p.I742I|NLRP7_ENST00000590030.1_Silent_p.I742I|NLRP7_ENST00000340844.2_Silent_p.I742I|NLRP7_ENST00000446217.1_Silent_p.I770I|NLRP7_ENST00000328092.5_Silent_p.I714I|NLRP7_ENST00000448121.2_Silent_p.I714I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	742							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552000													3	42					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523681	55523681	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55523681G>A	ENST00000305377.5	+	1	217	c.129G>A	c.(127-129)agG>agA	p.R43R		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CAGGCTTCAGGGTACGCCCAG	0.448000													6	74					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967600	4967600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4967600G>A	ENST00000380373.2	-	1	756	c.731C>T	c.(730-732)tCa>tTa	p.S244L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S244*(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.473000													7	59					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71384527	71384527	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71384527A>G	ENST00000339336.4	+	2	163	c.33A>G	c.(31-33)ctA>ctG	p.L11L	AMTN_ENST00000504451.1_Silent_p.L11L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	11					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTTGTCTTCTAGGATCAACTC	0.388000													4	103					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115751004	115751004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:115751004C>T	ENST00000264363.2	-	13	3119	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	814	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTTGTCTTTCCTCCTTCCAG	0.333000													5	60					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949510	38949510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38949510G>A	ENST00000450244.1	-	10	1601	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	SCN11A_ENST00000456224.3_Missense_Mutation_p.S468F|SCN11A_ENST00000444237.2_Missense_Mutation_p.S468F|SCN11A_ENST00000302328.3_Missense_Mutation_p.S468F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	468					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAAAGAAGGACTTCCTTTT	0.398000													6	61					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044108	71044108	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:71044108G>A	ENST00000272367.2	-	4	481	c.405C>T	c.(403-405)ctC>ctT	p.L135L	CLEC4F_ENST00000426626.1_Silent_p.L135L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	135					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CGAGCACCTGGAGCTGCGAAT	0.458000													11	151					0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126255181	126255181	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:126255181C>T	ENST00000319340.2	+	2	215	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	55					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGCAGAAGCTCTATGACCTGG	0.602000													4	83					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590232	140590232	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140590232C>T	ENST00000239450.2	+	1	1942	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	PCDHB12_ENST00000541609.1_Silent_p.L248L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		585	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)			GCCGGGCTACCTGGTGACCAA	0.697000													22	349					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154996433	154996433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:154996433C>T	ENST00000368424.3	-	12	1803	c.1745G>A	c.(1744-1746)tGc>tAc	p.C582Y	DCST2_ENST00000295536.5_Missense_Mutation_p.C582Y	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	582						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGCAGGGGCACCTGAGAAA	0.592000													3	25					0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220590	10220590	+	Splice_Site	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10220590A>T	ENST00000428358.1	+	7	764	c.590_splice	c.e7-1	p.S198_splice	PPAN_ENST00000556468.1_Splice_Site_p.S198_splice|PPAN_ENST00000393793.1_Splice_Site_p.S145_splice|PPAN-P2RY11_ENST00000393796.4_Splice_Site_p.S198_splice|PPAN_ENST00000253107.7_Splice_Site_p.S198_splice	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		198	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TTCCTGCAGTAGCATCAAAGT	0.612000													17	165					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423862	33423862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33423862C>T	ENST00000395064.2	+	2	1253	c.985C>T	c.(985-987)Cct>Tct	p.P329S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	329	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GTTCTTGTTGCCTTCAGGGCC	0.567000													11	85					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624640	11624640	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11624640G>A	ENST00000270517.7	-	3	628	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.L165L|ECSIT_ENST00000592312.1_Silent_p.L49L|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Silent_p.L165L|ECSIT_ENST00000588998.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	165					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATCTGCTCCAGGACAGCAATC	0.617000													3	80					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101569171	101569171	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:101569171C>T	ENST00000284395.5	+	21	3088	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	LRRK1_ENST00000388948.3_Silent_p.F899F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	899					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATCAGCTTCCTCATAGAAA	0.582000													13	208					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:42199308T>C	ENST00000373100.1	+	8	872	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	SGK2_ENST00000423407.3_Missense_Mutation_p.F138L|SGK2_ENST00000426287.1_Missense_Mutation_p.F164L|SGK2_ENST00000373077.1_Missense_Mutation_p.F137L|SGK2_ENST00000373092.3_Missense_Mutation_p.F138L|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000341458.4_Missense_Mutation_p.F198L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	198	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627000													8	113					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78784672	78784672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:78784672C>T	ENST00000545128.1	+	13	2210	c.1672C>T	c.(1672-1674)Cat>Tat	p.H558Y	PCSK5_ENST00000376752.4_Missense_Mutation_p.H558Y|PCSK5_ENST00000376767.3_Missense_Mutation_p.H558Y	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	558	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CATGACCATTCATTGCTGGGG	0.423000													11	93					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302643	161302643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:161302643G>A	ENST00000428797.2	+	7	909	c.554G>A	c.(553-555)gGa>gAa	p.G185E	GABRA1_ENST00000393943.4_Missense_Mutation_p.G185E|GABRA1_ENST00000444819.1_Missense_Mutation_p.G185E|GABRA1_ENST00000437025.2_Missense_Mutation_p.G185E|GABRA1_ENST00000420560.1_Missense_Mutation_p.G185E|GABRA1_ENST00000023897.6_Missense_Mutation_p.G185E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	185					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTAAAATTTGGAAGTTGTGAG	0.393000													7	63					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562747	29562747	+	Missense_Mutation	SNP	G	G	A	rs137854556		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:29562747G>A	ENST00000358273.4	+	28	4210	c.3827G>A	c.(3826-3828)cGa>cAa	p.R1276Q	NF1_ENST00000356175.3_Missense_Mutation_p.R1276Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1276	Ras-GAP.		R -> G (in NF1).|R -> P (in NF1; complete loss of GAP activity).|R -> Q (in NF1 and mismatch repair deficient cancer cells).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R1276Q(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTCTCTTCCGAGGCAACAGC	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	174					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936716	151936716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:151936716G>A	ENST00000367290.5	+	10	1959	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CCDC170_ENST00000239374.7_Missense_Mutation_p.E617K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	617																	TGAGGCTAAGGAGAATAAAGA	0.403000													6	77					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16242265	16242265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:16242265G>A	ENST00000339732.5	+	3	1349	c.846G>A	c.(844-846)atG>atA	p.M282I	GALNT15_ENST00000437509.1_Missense_Mutation_p.M282I	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TCGTCTTCATGGATGCCCACT	0.607000													4	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085544	9085544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9085544G>A	ENST00000397910.4	-	1	6474	c.6271C>T	c.(6271-6273)Cca>Tca	p.P2091S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2091	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						GAAAAGAGTGGAAATTCAGTC	0.473000													12	174					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258356	18258356	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:18258356C>T	ENST00000286479.3	+	2	950	c.843C>T	c.(841-843)ccC>ccT	p.P281P	NAT2_ENST00000520116.1_Silent_p.P151P	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	281					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATCTCGTGCCCAAACCTGGTG	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				5	59					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325058	74325058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74325058G>A	ENST00000322348.4	-	1	1666	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	269					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTAAGTTCATGATGGTAAGTG	0.398000													8	133					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023914	31023914	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31023914C>T	ENST00000375687.4	+	13	3823	c.3399C>T	c.(3397-3399)tcC>tcT	p.S1133S	ASXL1_ENST00000306058.5_Silent_p.S1128S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1133					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTCAGAATCCCCACAAGTAC	0.522000			"""F, N, Mis"""		"""MDS, CMML"""								5	71					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35278413	35278413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:35278413C>T	ENST00000316637.5	+	3	420	c.415C>T	c.(415-417)Cct>Tct	p.P139S	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	139						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GATCATGGTTCCTGATGAGGT	0.527000													7	96					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6853068	6853068	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6853068G>A	ENST00000304076.2	+	24	2338	c.2244G>A	c.(2242-2244)aaG>aaA	p.K748K	VAV1_ENST00000596764.1_Silent_p.K738K|VAV1_ENST00000602142.1_Silent_p.K770K|VAV1_ENST00000599806.1_Silent_p.K715K|VAV1_ENST00000539284.1_Silent_p.K673K	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	770	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCCTGAAAAGAGAACCATCA	0.532000													4	67					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339949	29339949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:29339949C>T	ENST00000269205.5	-	1	894	c.706G>A	c.(706-708)Gga>Aga	p.G236R	SLC25A52_ENST00000579441.2_Missense_Mutation_p.G226R	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	226					transport	integral to membrane|mitochondrial inner membrane											CACAAGAATCCCAACATGGCA	0.448000													7	76					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079959	23079959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23079959C>T	ENST00000219689.7	-	16	3466	c.3467G>A	c.(3466-3468)aGa>aAa	p.R1156K	USP31_ENST00000567975.1_Missense_Mutation_p.R449K	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1156	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAGCCCTCTCTACTCAAGCT	0.612000													4	56					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301234	110301234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110301234C>T	ENST00000414000.2	+	3	1203	c.964C>T	c.(964-966)Ccg>Tcg	p.P322S	GPR6_ENST00000275169.3_Missense_Mutation_p.P307S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	307						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCATGAGGACCCGGCGGTCTA	0.617000													10	80					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4788845	4788845	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4788845C>T	ENST00000355280.6	+	7	772	c.576C>T	c.(574-576)ccC>ccT	p.P192P	MINK1_ENST00000453408.3_Silent_p.P192P|MINK1_ENST00000347992.7_Silent_p.P192P	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	192	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TTGGGACTCCCTACTGGATGG	0.567000													17	146					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628294	33628294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:33628294G>A	ENST00000380099.3	+	2	1218	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	KL_ENST00000426690.2_Missense_Mutation_p.E97K|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	404	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418000													22	173					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95107122	95107122	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95107122G>A	ENST00000469935.1	+	0	61					NR_015340.1																						ctccgtgcatgattgctttga	0.587000													3	12					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61070607	61070607	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:61070607G>A	ENST00000301764.7	-	23	3250	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000450997.2_Silent_p.P262P	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	951	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCCAGTTGGGATTAAAGT	0.413000								Nucleotide excision repair (NER)					25	202					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117303215	117303215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117303215G>A	ENST00000369478.3	+	3	682	c.574G>A	c.(574-576)Gtc>Atc	p.V192I		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	192	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGGGAACAAAGTCAGCAAGGA	0.527000													11	70					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70852284	70852284	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70852284G>A	ENST00000393567.2	-	84	14769	c.14619C>T	c.(14617-14619)atC>atT	p.I4873I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4873										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGCAGGGCGATGTCGGGCA	0.632000													6	28					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844913	92844913	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92844913C>T	ENST00000394468.2	-	3	593	c.516G>A	c.(514-516)gtG>gtA	p.V172V	HEPACAM2_ENST00000440868.1_Silent_p.V160V|HEPACAM2_ENST00000341723.4_Silent_p.V160V|HEPACAM2_ENST00000453812.2_Silent_p.V195V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	172	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGCCCCCTTCCACATGGCATG	0.507000													5	52					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563860	51563860	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51563860A>G	ENST00000595793.1	-	2	111	c.69T>C	c.(67-69)tcT>tcC	p.S23S	KLK13_ENST00000595547.1_Silent_p.S23S|KLK13_ENST00000596955.1_Silent_p.S23S|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	23					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GAACCTTGGAAGACTCCTGGG	0.562000													10	134					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046492	17046492	+	RNA	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17046492G>A	ENST00000492551.1	-	0	160					NR_026567.1																						CCTCAGGGAGGGGAAGTCTCC	0.627000													7	78					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623787	2623787	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2623787G>A	ENST00000296847.3	-	3	793	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	90										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCGTGAAAGTGAAGGAGGAAA	0.597000													6	74					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950548	38950548	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38950548C>T	ENST00000450244.1	-	9	1437	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	SCN11A_ENST00000456224.3_Silent_p.E413E|SCN11A_ENST00000444237.2_Silent_p.E413E|SCN11A_ENST00000302328.3_Silent_p.E413E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	413					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGCCTCTATCTCTGCAGCTA	0.488000													17	112					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788856	13788856	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13788856C>T	ENST00000265104.4	-	51	8720	c.8616G>A	c.(8614-8616)gtG>gtA	p.V2872V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2872					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAAGAAATCCACAAAATATG	0.403000									Kartagener syndrome				12	107					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905102	55905102	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55905102G>A	ENST00000301529.1	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGAGCACTAGGAAGACCAGGA	0.502000													14	129					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241907714	241907714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:241907714G>A	ENST00000366552.2	+	12	1667	c.1460G>A	c.(1459-1461)gGg>gAg	p.G487E	WDR64_ENST00000437684.2_Missense_Mutation_p.G487E	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	487										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCGAGACTGGGCTCCAAGTA	0.403000													6	31					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567912	5567912	+	Splice_Site	SNP	C	C	T	rs11546908		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:5567912C>T	ENST00000331789.5	-	4	993	c.802_splice	c.e4+1	p.G268_splice		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	268					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTCCACTCACCCAGGAAGGAA	0.607000													13	109					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046120	73046120	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:73046120C>T	ENST00000604411.1	+	0	34081				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCTTCTCAGTCTAGGGCTTCT	0.413000													11	19					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8015439	8015439	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:8015439G>A	ENST00000380149.1	-	6	1254	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	ALOXE3_ENST00000318227.3_Silent_p.I384I|ALOXE3_ENST00000448843.2_Silent_p.I252I			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	252	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCACCAGAAGATGTTCTGCA	0.537000													7	161					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619375	71619375	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:71619375G>A	ENST00000408926.3	+	4	1014	c.480G>A	c.(478-480)gcG>gcA	p.A160A	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.A160A	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	160						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATGGACAAGCGAATTTCAGTC	0.398000													11	81					0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30594998	30594998	+	Silent	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:30594998T>A	ENST00000330083.5	+	1	336	c.18T>A	c.(16-18)ccT>ccA	p.P6P	ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376483.4_Intron|ATAT1_ENST00000318999.7_Intron|ATAT1_ENST00000376485.4_Intron|ATAT1_ENST00000376478.2_Intron|ATAT1_ENST00000319027.5_Intron|ATAT1_ENST00000329992.8_Intron	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	0							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGACCTGGCCTTTCTGCTTCC	0.527000													11	62					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134986725	134986725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:134986725C>T	ENST00000535938.1	+	4	477	c.310C>T	c.(310-312)Cct>Tct	p.P104S	SAGE1_ENST00000370709.3_Missense_Mutation_p.P104S|SAGE1_ENST00000537770.1_Missense_Mutation_p.P104S|SAGE1_ENST00000324447.3_Missense_Mutation_p.P104S	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	104										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCCACCATGGCCTGGTAATAT	0.428000													10	53					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342472	40342472	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:40342472G>T	ENST00000406785.1	-	8	2924	c.2735C>A	c.(2734-2736)tCc>tAc	p.S912Y	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S940Y|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S943Y|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S948Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S943Y|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S912Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S912Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S912Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S948Y|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S912Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	948					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAGAGGCAGGATGTGAGGAG	0.512000													12	80					1.05317e-09	1.06537e-09	1	1	0
PSG7	5676	broad.mit.edu	37	19	43433763	43433763	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43433763C>T	ENST00000446844.3	-	0	629				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CATTCATCCACCACAGGTAGC	0.517000													44	285					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93515639	93515639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:93515639C>T	ENST00000394196.4	+	19	3565	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	CHD2_ENST00000557381.1_Missense_Mutation_p.P833S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	833	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAACACTATCCTTTCCAGGT	0.463000													9	134					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869720	36869720	+	Silent	SNP	G	G	A	rs147347811	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:36869720G>A	ENST00000279024.4	-	3	1084	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	271										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGTCTCCCTCGAAGTCCTGGC	0.582000													9	130					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000													29	134					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473679	74473679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:74473679C>T	ENST00000323940.5	-	17	1886	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	STRA6_ENST00000395105.4_Missense_Mutation_p.M547I|STRA6_ENST00000574278.1_Missense_Mutation_p.M562I|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.M538I|STRA6_ENST00000535552.1_Missense_Mutation_p.M584I|STRA6_ENST00000449139.2_Missense_Mutation_p.M547I|STRA6_ENST00000416286.3_Missense_Mutation_p.M539I|STRA6_ENST00000563965.1_Missense_Mutation_p.M586I	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	547					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCTGAGGTCCATCTGGCCAA	0.632000													5	53					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547999	100547999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:100547999G>A	ENST00000372907.3	-	1	46	c.35C>T	c.(34-36)tCa>tTa	p.S12L	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATCATTTTCTGAAGAAATGGG	0.498000													42	240					0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243266	19243266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19243266G>A	ENST00000162044.9	-	5	402	c.338C>T	c.(337-339)tCg>tTg	p.S113L	TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000587583.2_Intron|TMEM161A_ENST00000450333.2_Intron	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	113					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CACGCCGCCCGAGTACACAGC	0.597000													22	184					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102690	81102690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81102690C>T	ENST00000228641.3	+	3	902	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	227					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GACAGTATTTCCTCGGAGGAA	0.527000													7	65					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790184	248790184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248790184C>T	ENST00000330803.2	-	1	307	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82I(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			CTTTAGAAACCATGTCTGCCA	0.502000													6	25					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616379	248616379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248616379C>T	ENST00000342927.3	+	1	303	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			AAGACCATTTCCTTCCTGGGC	0.522000													7	208					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542564	182542564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:182542564G>A	ENST00000295108.3	-	2	1481	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	342					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)			ACTCGCTCATGATGTGAATGG	0.522000													6	155					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731123	92731123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92731123C>T	ENST00000379958.2	-	3	4557	c.4288G>A	c.(4288-4290)Gaa>Aaa	p.E1430K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1430						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)			AAATACGGTTCTGAAAACTGA	0.373000													11	131					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136197	114136197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114136197C>T	ENST00000356116.1	+	1	242	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354273.4_5'UTR|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354655.4_Intron	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGATGCGGCCCCCTCGCAGGG	0.607000													5	90					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862045	128862045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:128862045C>T	ENST00000274487.4	+	4	1109	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	322					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATACAAATTACCTCAAGAATA	0.393000													3	40					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222777	27222777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:27222777C>T	ENST00000230582.3	+	11	1358	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.P191L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	448					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GACACAGACCCCTGGCATGTG	0.552000													18	226					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895665	90895665	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:90895665C>T	ENST00000287934.2	+	1	1883	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	490					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.F490F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGTGGCTTCGTGCTGGCGC	0.612000													22	281					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633685	32633685	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:32633685G>A	ENST00000242310.4	-	1	1982	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	631					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAACTGCCGGATTTTGATGG	0.488000													12	82					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835623	247835623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247835623G>A	ENST00000359688.2	-	1	742	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H241Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACTGTGAGATGAGATGAGCAT	0.443000													6	49					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350389	100350389	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100350389C>T	ENST00000542585.1	+	0	2809				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCATTGAAG	0.502000													18	138					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710616	18710616	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18710616G>A	ENST00000392386.3	-	2	349	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	52	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGAGGAGCCGATGAGAAGCG	0.672000													6	12					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775066	2775066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2775066C>T	ENST00000380605.2	-	14	2039	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	659					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCAATAATCCCCGCCCCAC	0.597000													6	73					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79936185	79936185	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79936185A>T	ENST00000360280.3	+	43	5776	c.5516A>T	c.(5515-5517)gAc>gTc	p.D1839V	VPS13A_ENST00000357409.5_Missense_Mutation_p.D1839V|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1800V|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1839V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1839					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATTCAAAAGACCAATTAAAC	0.294000													5	20					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539302	187539302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187539302G>A	ENST00000441802.2	-	10	8647	c.8438C>T	c.(8437-8439)cCa>cTa	p.P2813L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2813	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCTCATATGGACTAGATTC	0.458000										HNSCC(5;0.00058)			9	130					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6753577	6753577	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6753577C>G	ENST00000229243.2	-	5	763	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	ACRBP_ENST00000536350.1_Missense_Mutation_p.E224Q|ACRBP_ENST00000414226.2_Missense_Mutation_p.E191Q	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	224						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						tcctgttcctcttcttgctct	0.567000													6	33					0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15646127	15646127	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:15646127G>A	ENST00000380342.3	-	6	891	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	212					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CCTCTGTCATGAAGGCATCAT	0.453000													6	18					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127821555	127821555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:127821555C>T	ENST00000316724.5	-	8	1063	c.652G>A	c.(652-654)Gag>Aag	p.E218K	BIN1_ENST00000393041.3_Missense_Mutation_p.E187K|BIN1_ENST00000259238.4_Missense_Mutation_p.E187K|BIN1_ENST00000357970.3_Missense_Mutation_p.E218K|BIN1_ENST00000351659.3_Missense_Mutation_p.E218K|BIN1_ENST00000346226.3_Missense_Mutation_p.E187K|BIN1_ENST00000393040.3_Missense_Mutation_p.E187K|BIN1_ENST00000409400.1_Missense_Mutation_p.E187K|BIN1_ENST00000352848.3_Missense_Mutation_p.E187K|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Missense_Mutation_p.E187K|BIN1_ENST00000376113.2_Missense_Mutation_p.E187K	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	218	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACATTCATCTCCTCAAACACC	0.652000													11	115					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104275	131104275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:131104275G>A	ENST00000357668.1	-	24	2543	c.2516C>T	c.(2515-2517)tCc>tTc	p.S839F	ASAP1_ENST00000518721.1_Missense_Mutation_p.S839F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	839	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGAGGGTCGGATAGGGTTCT	0.592000													10	134					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381695	156381695	+	Missense_Mutation	SNP	G	G	A	rs115724540	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156381695G>A	ENST00000274532.2	-	2	187	c.131C>T	c.(130-132)tCc>tTc	p.S44F	TIMD4_ENST00000407087.3_Missense_Mutation_p.S44F	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	44	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGACCAGGATGAGTACAG	0.542000													5	60					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773519	151773519	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:151773519A>G	ENST00000368820.3	-	2	2599	c.1662T>C	c.(1660-1662)atT>atC	p.I554I		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	554						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAAAGGGCAATCAGGCCAA	0.567000													24	165					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48733226	48733226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48733226G>A	ENST00000285238.8	+	2	159	c.79G>A	c.(79-81)Gac>Aac	p.D27N	ABCC3_ENST00000427699.1_Missense_Mutation_p.D27N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	27					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGAAAACCCGGACCTCACTCC	0.592000													9	86					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56759717	56759717	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:56759717G>A	ENST00000381295.2	+	15	2072		c.e15-1		EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTCTGAACAGGAAAGATATG	0.348000													6	47					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17410329	17410329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17410329C>T	ENST00000375486.4	-	9	1005	c.942G>A	c.(940-942)atG>atA	p.M314I	PADI2_ENST00000444885.2_Missense_Mutation_p.M198I|PADI2_ENST00000375481.1_Missense_Mutation_p.M314I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	314					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)	AATTATCCTTCATGCTGAGAA	0.527000													8	88					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50106595	50106595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:50106595C>T	ENST00000299192.7	+	5	783	c.592C>T	c.(592-594)Cct>Tct	p.P198S	HEATR3_ENST00000285767.4_Missense_Mutation_p.P112S	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	198							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AAGTAGGTTTCCTACCAATGT	0.348000													11	96					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21490309	21490309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21490309C>T	ENST00000556147.1	-	5	1196	c.256G>A	c.(256-258)Gag>Aag	p.E86K	NDRG2_ENST00000555158.1_Missense_Mutation_p.E72K|NDRG2_ENST00000554143.1_Missense_Mutation_p.E72K|NDRG2_ENST00000397853.3_Missense_Mutation_p.E86K|NDRG2_ENST00000553503.1_Missense_Mutation_p.E72K|NDRG2_ENST00000397856.3_Missense_Mutation_p.E72K|NDRG2_ENST00000298684.5_Missense_Mutation_p.E72K|NDRG2_ENST00000298687.5_Missense_Mutation_p.E86K|NDRG2_ENST00000397847.2_Missense_Mutation_p.E86K|NDRG2_ENST00000397851.2_Missense_Mutation_p.E86K|NDRG2_ENST00000397844.2_Missense_Mutation_p.E72K|NDRG2_ENST00000397858.1_Missense_Mutation_p.E86K|NDRG2_ENST00000554104.1_5'UTR|NDRG2_ENST00000403829.3_Missense_Mutation_p.E82K|NDRG2_ENST00000397855.3_Missense_Mutation_p.E72K|NDRG2_ENST00000350792.3_Missense_Mutation_p.E72K|NDRG2_ENST00000360463.3_Missense_Mutation_p.E72K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	86					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCATGTCCTCGAACTGAAAC	0.493000													9	85					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164704957	164704957	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164704957A>G	ENST00000264382.3	-	45	5228	c.5166T>C	c.(5164-5166)ggT>ggC	p.G1722G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1722	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAACAGAGAACCCTGTGCCA	0.333000										HNSCC(35;0.089)			5	90					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74275205	74275205	+	Splice_Site	SNP	G	G	A	rs75828235		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:74275205G>A	ENST00000295897.4	+	5	704		c.e5+1		ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_Splice_Site|ALB_ENST00000401494.3_Splice_Site|ALB_ENST00000509063.1_Splice_Site|ALB_ENST00000503124.1_Splice_Site	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin						bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTTGCCAAAGGTATTATGCAA	0.388000													3	61					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46202120	46202120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46202120C>T	ENST00000012049.5	+	5	1069	c.848C>T	c.(847-849)cCt>cTt	p.P283L	QPCTL_ENST00000366382.4_Missense_Mutation_p.P189L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	283					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGCCACTTCCCTCGCACGGTC	0.622000													19	140					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21082078	21082078	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21082078A>G	ENST00000255882.6	-	40	4843	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	PI4KA_ENST00000414196.3_Missense_Mutation_p.V338A|PI4KA_ENST00000572273.1_Missense_Mutation_p.V1528A	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1528					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGCTTCAGGCACATCACTAAC	0.512000													11	108					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	228004921	228004921	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228004921T>C	ENST00000396625.3	-	4	355	c.148A>G	c.(148-150)Aga>Gga	p.R50G	COL4A4_ENST00000329662.7_Missense_Mutation_p.R50G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	50	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAGCAATCTCTTCCTCCACAA	0.413000													7	94					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318344	30318344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30318344C>T	ENST00000375377.1	-	3	834	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	245										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGGGAATTTCCGTGCAACTC	0.458000													9	154					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952542	140952542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140952542G>A	ENST00000277549.5	+	29	4305	c.1736G>A	c.(1735-1737)gGt>gAt	p.G579D	CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1384D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1384D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1383D|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1383D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1383D			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1383					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GAGGAGCAGGGTCCAAGCCCT	0.532000													5	69					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029119	219029119	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219029119C>T	ENST00000295683.2	-	2	936	c.816G>A	c.(814-816)gtG>gtA	p.V272V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	272					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TCTCCTGGATCACCTGGGTCC	0.582000													6	80					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443930	5443930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5443930G>A	ENST00000300778.4	+	1	590	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCAAGCGACTGCCTTTC	0.517000													17	232					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123182191	123182191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:123182191G>A	ENST00000349780.4	-	27	4231	c.4052C>T	c.(4051-4053)cCt>cTt	p.P1351L	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P1351L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P1310L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P1319L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1351					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAAGGCTCAGGAGATTCAGG	0.423000													20	82					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94153332	94153332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:94153332G>A	ENST00000323929.3	-	20	2308	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	MRE11A_ENST00000323977.3_Missense_Mutation_p.P668S|MRE11A_ENST00000393241.4_Missense_Mutation_p.P695S|MRE11A_ENST00000407439.3_Missense_Mutation_p.P699S	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	696					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTCATAAAAGGATCATCATCA	0.323000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				7	76					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992898	124992898	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124992898G>A	ENST00000522917.1	+	11	1463	c.1257G>A	c.(1255-1257)ctG>ctA	p.L419L	FER1L6_ENST00000399018.1_Silent_p.L419L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	419						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAAGGCCCTGAAGGAGCTCA	0.463000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	61					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449724	105449724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:105449724G>A	ENST00000337685.2	+	5	1084	c.299G>A	c.(298-300)aGa>aAa	p.R100K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.R100K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.R100K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	100										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAATGAGAGAACAAATTTG	0.438000													3	27					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29752421	29752421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:29752421G>A	ENST00000357586.2	-	6	896	c.710C>T	c.(709-711)gCc>gTc	p.A237V	AP1B1_ENST00000415447.1_Missense_Mutation_p.A237V|AP1B1_ENST00000432560.2_Missense_Mutation_p.A237V|AP1B1_ENST00000405198.1_Missense_Mutation_p.A237V|AP1B1_ENST00000356015.2_Missense_Mutation_p.A237V|AP1B1_ENST00000317368.7_Missense_Mutation_p.A237V|AP1B1_ENST00000402502.1_Missense_Mutation_p.A237V	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	237					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCACCTCTGGGCCTCGCGGTC	0.637000													3	35					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012615	189012615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:189012615G>A	ENST00000512729.1	-	7	1450	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S384F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	359	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATACAGAGGGAAAACACAGG	0.473000													6	106					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615313	121615313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121615313G>A	ENST00000489711.1	+	2	554	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E56K	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	56					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGAATTCTGCGAGCGCTTTTC	0.453000													8	100					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235751	3235751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3235751C>T	ENST00000217939.6	-	6	6125	c.5971G>A	c.(5971-5973)Gtg>Atg	p.V1991M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1991	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTGCCACACCCTCCTGTCA	0.582000													6	22					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16884082	16884082	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16884082C>T	ENST00000524140.2	+	11	2974	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	NWD1_ENST00000523826.1_Silent_p.F646F|NWD1_ENST00000552788.1_Silent_p.F852F|NWD1_ENST00000549814.1_Silent_p.F852F|NWD1_ENST00000339803.6_Silent_p.F717F|NWD1_ENST00000379808.3_Silent_p.F852F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	852							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGGAGGATTCCTCCAGCCCC	0.627000													8	56					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667094	157667094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157667094G>A	ENST00000368184.3	-	6	971	c.680C>T	c.(679-681)tCc>tTc	p.S227F	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.S227F	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	227	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGAAGAGGGAGAATTGCAG	0.587000													6	77					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158484827	158484827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158484827C>T	ENST00000355585.4	+	9	1207	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.Q378*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.Q378*|SYNJ2_ENST00000449859.2_Nonsense_Mutation_p.Q306*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	378	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTAAGTTTTCAGAAAGGCAC	0.488000													12	176					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298818	107298818	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107298818G>A	ENST00000374781.2	-	1	319	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGGTTGCCCAGGAAGAAGTAC	0.398000													6	44					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072975	98072975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:98072975C>T	ENST00000354924.2	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGAATTATTTCCCTGTATGAA	0.433000													9	240					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70858292	70858292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:70858292C>T	ENST00000358731.4	+	38	7951	c.7688C>T	c.(7687-7689)cCa>cTa	p.P2563L	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2563					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GATCTGCTTCCATCTCCAAGT	0.363000													9	72					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506165	131506165	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131506165G>A	ENST00000306010.7	+	3	257	c.225G>A	c.(223-225)gtG>gtA	p.V75V	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	75										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCAGTGCCGTGGAGGTCCCAG	0.587000								Direct reversal of damage					9	62					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122285421	122285421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:122285421G>A	ENST00000263710.4	-	5	813	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CLASP1_ENST00000455322.2_Missense_Mutation_p.R142C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R142C|CLASP1_ENST00000541377.1_Missense_Mutation_p.R142C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R142C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	142					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCTCGAGTACGGAAATTCTTG	0.438000													10	58					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628095	26628095	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:26628095G>A	ENST00000380573.3	-	3	1995	c.972C>T	c.(970-972)atC>atT	p.I324I	ADRA1A_ENST00000380586.1_Silent_p.I324I|ADRA1A_ENST00000276393.4_Silent_p.I324I|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Silent_p.I324I|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Silent_p.I324I|ADRA1A_ENST00000354550.4_Silent_p.I324I			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	324					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	ATGGGTATATGATGGGGTTGA	0.438000													15	169					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587747	36587747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36587747G>A	ENST00000273183.3	+	11	1475	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	STAC_ENST00000457375.2_Missense_Mutation_p.G331D	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	392					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAAAAGAAAGGCCTCATCCCC	0.443000													5	61					0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45404058	45404058	+	Missense_Mutation	SNP	C	C	T	rs142412517	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:45404058C>T	ENST00000592434.1	+	7	808	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	TOMM40_ENST00000426677.2_Missense_Mutation_p.R239W|TOMM40_ENST00000405636.2_Missense_Mutation_p.R239W|TOMM40_ENST00000252487.5_Missense_Mutation_p.R239W			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	239					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GGTCTACCACCGGCGGCCTGG	0.622000													8	72					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257282	105257282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105257282G>A	ENST00000507740.1	+	18	3151	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	RIMS2_ENST00000436393.2_Missense_Mutation_p.G1176E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G997E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G94E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1158E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1220					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G1176E(1)|p.G972E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCAGAAGGAAAGTGAGTG	0.498000										HNSCC(12;0.0054)			5	83					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327916	80327916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:80327916G>A	ENST00000358842.3	-	1	1456	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	480					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTGAGAACTGACAAAGCCTG	0.493000													6	115					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414157	157414157	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:157414157C>T	ENST00000389413.3	-	14	2257	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	PTPRN2_ENST00000404321.2_Silent_p.K770K|PTPRN2_ENST00000389418.4_Silent_p.K747K|PTPRN2_ENST00000409483.1_Silent_p.K709K|PTPRN2_ENST00000389416.4_Silent_p.K730K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	747						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTTCCCACTCCTTCTCCAGCC	0.627000													18	334					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374955	135374955	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:135374955C>T	ENST00000343036.2	+	4	648	c.600C>T	c.(598-600)ctC>ctT	p.L200L	C9orf171_ENST00000393215.3_Silent_p.L164L|C9orf171_ENST00000393216.2_Silent_p.L164L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	200										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGCCCCCTCTCCCTCCAAACA	0.597000													29	91					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028354	61028354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61028354G>A	ENST00000373867.3	-	9	1117	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	FAM13C_ENST00000419214.2_Missense_Mutation_p.R301W|FAM13C_ENST00000373868.2_Missense_Mutation_p.R301W|FAM13C_ENST00000442566.3_Missense_Mutation_p.R322W|FAM13C_ENST00000277705.6_Missense_Mutation_p.R322W|FAM13C_ENST00000468840.2_Missense_Mutation_p.R218W|FAM13C_ENST00000435852.2_Missense_Mutation_p.R301W|FAM13C_ENST00000422313.2_Missense_Mutation_p.R301W	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	301								p.R301W(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAAATTTCCGAATTTTCCGC	0.507000													4	34					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241964495	241964495	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:241964495T>C	ENST00000366552.2	+	27	3431	c.3224T>C	c.(3223-3225)tTc>tCc	p.F1075S	WDR64_ENST00000437684.2_Missense_Mutation_p.F908S	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1075										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCTTCTTCCTTCTTCCCAGCT	0.388000													8	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000													3	38					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111188	81111188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81111188C>T	ENST00000228644.3	+	1	498	c.346C>T	c.(346-348)Cag>Tag	p.Q116*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	116	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAACCCCAACCAGAGGCTGCC	0.592000													8	118					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174039	21174039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21174039G>A	ENST00000255882.6	-	6	765	c.679C>T	c.(679-681)Cga>Tga	p.R227*	PI4KA_ENST00000572273.1_Nonsense_Mutation_p.R169*	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	169					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAACGCCTTCGAACACCTTCA	0.517000													18	188					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77104307	77104307	+	Nonsense_Mutation	SNP	C	C	T	rs147932692		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:77104307C>T	ENST00000426216.2	+	21	2442	c.2425C>T	c.(2425-2427)Cga>Tga	p.R809*	ATP9B_ENST00000307671.7_Nonsense_Mutation_p.R809*|ATP9B_ENST00000543761.1_Nonsense_Mutation_p.R130*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	809					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAATGCATTTCGAAGGAAGCA	0.473000													13	60					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000530628.2_Silent_p.A128A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	39					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307342	37307342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:37307342C>T	ENST00000373091.3	-	10	1541	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D509N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	509					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTTACGTGGTCGATGAGCTCC	0.592000													18	112					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825729	43825729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43825729G>A	ENST00000372462.1	+	4	720	c.517G>A	c.(517-519)Gac>Aac	p.D173N	CDC20_ENST00000310955.6_Missense_Mutation_p.D173N|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	173					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCTGCCAGACCGTATCCT	0.522000													37	305					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39025308	39025308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:39025308C>T	ENST00000373256.4	+	3	279	c.236C>T	c.(235-237)tCg>tTg	p.S79L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	79					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GAGCCAGGCTCGTTCGTGAAT	0.622000													6	39					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108776323	108776323	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108776323T>C	ENST00000232603.5	-	13	1124	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	MORC1_ENST00000483760.1_Missense_Mutation_p.T348A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	348					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTCTTGCTGTTTTTAATTCT	0.313000													8	39					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715010	150715010	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:150715010G>A	ENST00000335244.4	-	6	753	c.624C>T	c.(622-624)ttC>ttT	p.F208F	SLC36A2_ENST00000521967.1_Silent_p.F208F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	208					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGGGCAGGAAGGAGAGCA	0.527000													12	133					0	0	1	0	0
CCL24	6369	broad.mit.edu	37	7	75442967	75442967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75442967G>A	ENST00000416943.1	-	2	160	c.67C>T	c.(67-69)Cct>Tct	p.P23S	CCL24_ENST00000222902.2_Missense_Mutation_p.P23S	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	23					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						TTACCCGTAGGGATGATGTGG	0.607000													18	160					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92408619	92408619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:92408619G>A	ENST00000377067.3	+	5	1597	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	409						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGTGCTAATGAATTAGCTGC	0.373000													6	64					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28905197	28905197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28905197C>T	ENST00000375664.3	+	12	2126	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	WAC_ENST00000375646.1_Missense_Mutation_p.S399F|WAC_ENST00000347934.4_Missense_Mutation_p.S448F|WAC_ENST00000354911.4_Missense_Mutation_p.S551F			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	551					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCTGCCCGATCCACGTGTTCA	0.443000													15	107					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616858	77616858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77616858C>T	ENST00000521891.2	+	2	983	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q179*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q179*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q179*|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGAGTGATCAGTCTGCTTC	0.488000										HNSCC(33;0.089)			3	27					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105378019	105378019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:105378019G>A	ENST00000264122.4	-	19	3065	c.2744C>T	c.(2743-2745)cCa>cTa	p.P915L	CBLB_ENST00000407712.1_Missense_Mutation_p.P130L|CBLB_ENST00000394027.3_Missense_Mutation_p.P893L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	915	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTGAATTTCTGGTGCAGTCCT	0.458000			Mis S		AML								4	59					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381247	147381247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:147381247G>A	ENST00000240986.4	+	2	1218	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	GJA8_ENST00000369235.1_Missense_Mutation_p.E389K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	389					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E389K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCGCAGTCGGAGAAGGTGTC	0.577000													4	24					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26793217	26793217	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:26793217G>C	ENST00000541819.2	-	10	1415	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*	GABRB3_ENST00000545868.1_Nonsense_Mutation_p.S297*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.S382*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.S311*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.S382*			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	382					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGCCGCCTGAGACCTCATT	0.468000													11	200					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282005	52282005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52282005C>T	ENST00000301190.6	+	1	262	c.35C>T	c.(34-36)tCc>tTc	p.S12F	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0								p.S12F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGCGTTGCTTCCTGGGGAGGG	0.607000													17	174					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186064	53186064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53186064G>A	ENST00000417996.2	-	5	1221	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	KRT3_ENST00000309505.3_Nonsense_Mutation_p.Q383*	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	383	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGCTTCTCTGAGCGATATCC	0.537000													6	37					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337995	12337995	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12337995C>T	ENST00000358136.3	+	19	4480	c.4350C>T	c.(4348-4350)agC>agT	p.S1450S	VPS13D_ENST00000356315.4_Silent_p.S1450S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1450					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGAAGGAAGCCGGATGTTTT	0.483000													19	135					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20936973	20936973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:20936973C>T	ENST00000263205.7	+	10	1417	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	MED15_ENST00000406969.1_Missense_Mutation_p.P384S|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Missense_Mutation_p.P339S|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.P410S|MED15_ENST00000425759.2_Missense_Mutation_p.P299S|MED15_ENST00000541476.1_Missense_Mutation_p.P384S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	450	Poly-Pro.|Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTCGATGCCCCCTCCCCCCCA	0.731000													8	29					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890453	215890453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:215890453G>A	ENST00000272895.7	-	11	1450	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	ABCA12_ENST00000389661.4_Missense_Mutation_p.R93C|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	411					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAACCATTGCGAAGAAAAGAT	0.313000													3	58					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251599	92251599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92251599C>T	ENST00000435962.2	-	11	1592	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	TC2N_ENST00000556018.1_Missense_Mutation_p.M359I|TC2N_ENST00000360594.5_Missense_Mutation_p.M423I|TC2N_ENST00000340892.5_Missense_Mutation_p.M423I	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	423	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTGGAAAAATCATAGTCTCTC	0.398000													31	239					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089940	9089940	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9089940G>A	ENST00000397910.4	-	1	2078	c.1875C>T	c.(1873-1875)caC>caT	p.H625H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	625	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						TGGTGAGTAGGTGGGTTGTGC	0.577000													5	86					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77353456	77353456	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77353456C>T	ENST00000451710.3	-	35	5892	c.5655G>A	c.(5653-5655)ggG>ggA	p.G1885G	TRPM6_ENST00000376864.4_Silent_p.G1885G|TRPM6_ENST00000449912.2_Silent_p.G1876G|TRPM6_ENST00000376872.3_Silent_p.G836G|TRPM6_ENST00000360774.1_Silent_p.G1881G|TRPM6_ENST00000376871.3_Silent_p.G718G|TRPM6_ENST00000361255.3_Silent_p.G1876G			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1881	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCGGAACTCCCCTGTCATAT	0.463000													4	55					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345316	20345316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20345316C>T	ENST00000298642.2	+	1	926	c.890C>T	c.(889-891)gCc>gTc	p.A297V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTAAAGATAGCCATGAGGAAA	0.348000													6	39					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73072419	73072419	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:73072419G>A	ENST00000545377.1	+	6	914	c.738G>A	c.(736-738)tcG>tcA	p.S246S	ARHGEF28_ENST00000296794.6_Silent_p.S246S|ARHGEF28_ENST00000287898.5_Silent_p.S246S|ARHGEF28_ENST00000513042.2_Silent_p.S246S|ARHGEF28_ENST00000426542.2_Silent_p.S246S|ARHGEF28_ENST00000437974.1_Silent_p.S246S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TTCACTCATCGGAAACGCTGA	0.473000													7	161					0	0	1	0	0
CHURC1	91612	broad.mit.edu	37	14	65381176	65381176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:65381176G>A	ENST00000607599.1	+	1	98	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	CHURC1_ENST00000359118.2_5'UTR|CHURC1_ENST00000548752.2_Missense_Mutation_p.R15Q|CHURC1_ENST00000549115.1_Missense_Mutation_p.R15Q|CHURC1_ENST00000552002.2_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		TCGTCTTCCCGGAAGCGTTGG	0.602000													13	176					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408083	40408083	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40408083G>A	ENST00000221347.6	-	9	4645	c.4638C>T	c.(4636-4638)tcC>tcT	p.S1546S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1546	Cys-rich.|TIL 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCAGCCCAGGGAGCAGGTGT	0.652000													9	54					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803035	54803035	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54803035G>A	ENST00000391745.1	-	8	1009	c.693C>T	c.(691-693)ctC>ctT	p.L231L	LILRA3_ENST00000251390.3_Silent_p.L214L|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAGCCCCAGGAGATCACTGG	0.617000													25	140					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3641756	3641756	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:3641756C>T	ENST00000335312.3	-	15	1822	c.1734G>A	c.(1732-1734)caG>caA	p.Q578Q	PIP5K1C_ENST00000589578.1_Silent_p.Q578Q|PIP5K1C_ENST00000539785.1_Silent_p.Q578Q|PIP5K1C_ENST00000537021.1_Silent_p.Q578Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	578					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CAGGCTCCACCTGCACTGTAA	0.672000													8	100					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032214	10032214	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:10032214C>T	ENST00000396573.2	-	4	918	c.609G>A	c.(607-609)gtG>gtA	p.V203V	GRIN2A_ENST00000330684.3_Silent_p.V203V|GRIN2A_ENST00000396575.2_Silent_p.V203V|GRIN2A_ENST00000562109.1_Silent_p.V203V|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.V203V|GRIN2A_ENST00000535259.1_Silent_p.V46V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	203					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAGTGTGATCACATTCTGCA	0.498000													6	84					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52878872	52878872	+	Silent	SNP	G	G	A	rs147704393		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52878872G>A	ENST00000355083.5	-	5	658	c.513C>T	c.(511-513)atC>atT	p.I171I	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.I171I	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		TTAGGAGGACGATGAAGACGA	0.537000													9	105					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832845	113832845	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113832845C>T	ENST00000393197.2	+	4	784	c.363C>T	c.(361-363)ttC>ttT	p.F121F	IL1F10_ENST00000337569.3_Silent_p.F121F|IL1F10_ENST00000341010.2_Silent_p.F121F	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	121						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTGGCTGGTTCCTGTGTGGCC	0.592000													4	88					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483759	137483759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:137483759G>A	ENST00000306087.1	+	1	181	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	45					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCTAGGTGCCGAATGGAAGCT	0.587000													9	38					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696060	222696060	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:222696060C>T	ENST00000343410.6	-	9	2116	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	686					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCTGGCTTTCTTCTTTGTAC	0.577000													12	327					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510864	48510864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:48510864C>T	ENST00000446524.1	+	1	596	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTCATTGATCATTTTTTCTG	0.463000													10	111					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696465	69696465	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:69696465C>T	ENST00000265403.7	+	6	1482	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	UGT2B10_ENST00000458688.2_Silent_p.F401F	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	485					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCACCTGGTTCCAGTACCACT	0.483000													8	182					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143254	200143254	+	Silent	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200143254A>G	ENST00000367362.3	+	8	1788	c.1542A>G	c.(1540-1542)gaA>gaG	p.E514E	NR5A2_ENST00000236914.3_Silent_p.E468E|NR5A2_ENST00000544748.1_Silent_p.E442E	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	514					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TGCAGGCTGAAGAATACCTCT	0.463000													5	31					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824910	74824910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:74824910G>A	ENST00000256362.4	+	2	1665	c.1424G>A	c.(1423-1425)tGg>tAg	p.W475*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	475					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GTAATTCCTTGGAAGAGTGAG	0.652000													8	90					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623609	74623609	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74623609G>A	ENST00000156626.7	-	3	1087	c.888C>T	c.(886-888)ctC>ctT	p.L296L	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	296					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGGCAGAAAGAGTTTCTGGA	0.532000													10	132					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096227	51096227	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:51096227A>T	ENST00000395542.2	-	12	2996	c.2812T>A	c.(2812-2814)Ttt>Att	p.F938I	COBL_ENST00000265136.7_Missense_Mutation_p.F856I			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	856										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCTTGAGAAATGTGACTTCT	0.597000													9	84					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64494806	64494806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64494806C>T	ENST00000377494.1	-	15	2723	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	RASGRP2_ENST00000377497.3_Missense_Mutation_p.V600M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.V600M|RASGRP2_ENST00000354024.3_Missense_Mutation_p.V600M			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	600					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCATCCTCCACCGTCTGTACC	0.602000													11	107					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667749	106667749	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106667749C>T	ENST00000390606.2	-	0	244																											CCAGCCCCTTCCCTGGAGCTT	0.562000													23	219					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43508741	43508741	+	Nonsense_Mutation	SNP	G	G	A	rs143336043		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:43508741G>A	ENST00000306862.2	-	3	598	c.223C>T	c.(223-225)Cga>Tga	p.R75*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	75								p.R75*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAAGAGTTTCGAAAATCTAGG	0.289000													5	76					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400132	34400132	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:34400132G>T	ENST00000374789.3	-	25	4361	c.4036C>A	c.(4036-4038)Cag>Aag	p.Q1346K	PARD3_ENST00000374790.3_Missense_Mutation_p.Q1286K|PARD3_ENST00000346874.4_Missense_Mutation_p.Q1309K|PARD3_ENST00000350537.4_Missense_Mutation_p.Q1300K|PARD3_ENST00000545693.1_Missense_Mutation_p.Q1330K|PARD3_ENST00000545260.1_Missense_Mutation_p.Q1256K|PARD3_ENST00000374788.3_Missense_Mutation_p.Q1343K|PARD3_ENST00000374794.3_Missense_Mutation_p.Q1234K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1346					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCAGGAGTCTGAAGTCTGTTC	0.517000													6	69					0.00198382	0.0019938	1	1	0
TBX1	6899	broad.mit.edu	37	22	19770515	19770515	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19770515C>T	ENST00000359500.3	+	9	1218	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S		NM_005992.1	NP_005983.1	O43435	TBX1_HUMAN	T-box 1	0					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				agtctgagtccctgagaccac	0.592000													9	127					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:79650840C>T	ENST00000397498.4	-	1	114	c.16G>A	c.(16-18)Ggg>Agg	p.G6R		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	6							GTP binding	p.G6R(1)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000													3	19					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643906	39643906	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39643906G>A	ENST00000393986.2	-	5	845	c.633C>T	c.(631-633)atC>atT	p.I211I	KRT36_ENST00000328119.6_Silent_p.I261I			O76013	KRT36_HUMAN	keratin 36	261	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TATCCTCCAGGATCTTGTTGA	0.587000													14	166					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113633433	113633433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113633433C>T	ENST00000416617.2	-	5	1487	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	IQCD_ENST00000299732.2_Missense_Mutation_p.D331N			Q96DY2	IQCD_HUMAN	IQ motif containing D	433										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ttctccttgtcctttgctttg	0.592000													10	100					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065575	35065575	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35065575G>A	ENST00000382002.5	-	10	1911	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	PRLR_ENST00000342362.5_Silent_p.P394P|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.P394P|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	495					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTTCTCCTGGGGCAGCAGCC	0.493000													8	96					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114321934	114321934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:114321934C>T	ENST00000335678.6	+	1	465	c.233C>T	c.(232-234)tCg>tTg	p.S78L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	78	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTCCTACAATCGGCAGAGAAG	0.577000													10	69					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663452	71663452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71663452G>A	ENST00000567566.1	+	2	719	c.650G>A	c.(649-651)gGg>gAg	p.G217E	MARVELD3_ENST00000268485.3_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTTCTGGAAGGGATGGTCTGA	0.433000													11	103					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034533	94034533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:94034533G>A	ENST00000297268.6	+	10	926	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	152					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACCCGGACGACCTGGTGAG	0.408000										HNSCC(75;0.22)			5	39					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319169	27319169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27319169G>A	ENST00000407991.1	-	7	2175	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	CHRNA2_ENST00000520933.2_Missense_Mutation_p.P523S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.P508S	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	523						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCTAGGAACGGAGGCAGAAAG	0.572000													12	109					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287622	238287622	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:238287622G>C	ENST00000295550.4	-	6	2606	c.2154C>G	c.(2152-2154)aaC>aaG	p.N718K	COL6A3_ENST00000409809.1_Missense_Mutation_p.N512K|COL6A3_ENST00000347401.3_Missense_Mutation_p.N517K|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.N311K|COL6A3_ENST00000392004.3_Missense_Mutation_p.N512K|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.N512K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	718	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAGCCTGTGTTCAGGCCCG	0.552000													7	29					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701903	56701903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56701903C>T	ENST00000586855.2	-	5	1094	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A261T			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	261					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCACAGAGGCTCTTTTCTGG	0.493000													11	98					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511323	61511323	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61511323G>A	ENST00000266070.4	-	16	6310	c.5985C>T	c.(5983-5985)tcC>tcT	p.S1995S	DIDO1_ENST00000395343.1_Silent_p.S1995S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1995	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAAAGGGTGCGGACCCCCGTA	0.597000													11	165					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662616	50662616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50662616C>T	ENST00000439308.2	-	13	2716	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.E742K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	742					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCTTCTCTCCCTGTCTCGG	0.637000													5	75					0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11280648	11280648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:11280648G>A	ENST00000381585.3	+	2	552	c.270G>A	c.(268-270)tgG>tgA	p.W90*	C2orf50_ENST00000405022.3_Nonsense_Mutation_p.W90*			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	90										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		TTCAGAACTGGAGTTTCCTGA	0.378000													5	118					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52994894	52994894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52994894C>T	ENST00000293745.2	-	1	428	c.343G>A	c.(343-345)Gac>Aac	p.D115N	KRT72_ENST00000537672.2_Missense_Mutation_p.D115N|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Missense_Mutation_p.D115N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	115	Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATCTCGGGGTCCATCTCCACG	0.652000													5	129					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665885	19665885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:19665885G>A	ENST00000328041.6	+	12	1401	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	402						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACGGAGGGACGATGTTGTGGC	0.532000													5	48					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571369	141571369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141571369G>A	ENST00000389484.3	-	32	6187	c.5216C>T	c.(5215-5217)tCg>tTg	p.S1739L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1739					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)		ATAGTCTATCGATAGACCTGT	0.343000										TSP Lung(27;0.18)			3	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788855	13788855	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13788855C>A	ENST00000265104.4	-	51	8721	c.8617G>T	c.(8617-8619)Gat>Tat	p.D2873Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2873					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCAAGAAATCCACAAAATAT	0.403000									Kartagener syndrome				13	103					0.000219431	0.000220854	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212488710	212488710	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:212488710C>T	ENST00000342788.4	-	18	2449	c.2139G>A	c.(2137-2139)ttG>ttA	p.L713L	ERBB4_ENST00000402597.1_Silent_p.L703L|ERBB4_ENST00000436443.1_Silent_p.L713L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	713					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGTTTCTTTCAAAATACGAA	0.403000										TSP Lung(8;0.080)			8	58					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722237	141722237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141722237G>A	ENST00000475668.2	+	7	934	c.880G>A	c.(880-882)Gga>Aga	p.G294R	MGAM_ENST00000549489.2_Missense_Mutation_p.G294R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	294	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACTCCCAATGGAGTAAGCTT	0.433000													7	60					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75245188	75245188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:75245188C>T	ENST00000244869.2	+	2	257	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	31					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			ACAGGCAGTCCTCAGTACAAC	0.373000													14	180					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149694	63149694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63149694G>A	ENST00000279178.3	+	6	1267	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	340					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCTGTGTGAAATGCTCCA	0.398000													6	72					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806950	143806950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143806950C>T	ENST00000408979.2	+	1	344	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAACCATCTCCTTTGTTCCA	0.423000													14	116					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707874	26707874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:26707874G>A	ENST00000529632.2	+	8	2018	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.E608K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E608K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E381K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E608K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E608K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E381K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	608	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCATCATCGAATGCATCAA	0.592000													26	173					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103557529	103557529	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:103557529G>A	ENST00000428762.1	-	2	489	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RELN_ENST00000424685.2_Silent_p.F110F|RELN_ENST00000343529.5_Silent_p.F110F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	110	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACCAAATCCGAAAGCACTGG	0.393000													12	100					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													9	79					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111082947	111082947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:111082947G>A	ENST00000360467.5	+	10	947	c.641G>A	c.(640-642)gGg>gAg	p.G214E	COL4A2_ENST00000462309.1_3'UTR	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	214	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCTCCAGGGAGACCAGTA	0.567000													17	125					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691750	189691750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:189691750G>A	ENST00000319332.5	-	10	1693	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.P318L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	499					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGGTGTATGGGGTGAAGTTTT	0.393000													24	233					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119026233	119026233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:119026233G>A	ENST00000296499.5	+	3	1445	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	348	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATTCAACCTGGGATTTTCAGG	0.338000													8	121					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48107073	48107073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:48107073C>T	ENST00000422538.3	-	7	972	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ENDOU_ENST00000229003.3_Missense_Mutation_p.E243K|ENDOU_ENST00000542202.1_Missense_Mutation_p.E50K|ENDOU_ENST00000545824.2_Missense_Mutation_p.E221K|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	284					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						AAGACATGTTCAAAGCCACTC	0.502000													12	149					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134878080	134878080	+	Missense_Mutation	SNP	G	G	A	rs139844816		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:134878080G>A	ENST00000354475.4	-	11	1593	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	WDR91_ENST00000344400.5_Missense_Mutation_p.S521F|WDR91_ENST00000423565.1_Missense_Mutation_p.S486F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	521								p.S521F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTCCACCTGGGAAGTGAGGCT	0.597000													8	87					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695783	52695783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52695783C>T	ENST00000293525.5	+	1	135	c.83C>T	c.(82-84)aCc>aTc	p.T28I	KRT86_ENST00000544024.1_Missense_Mutation_p.T28I|KRT86_ENST00000423955.2_Missense_Mutation_p.T28I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	28	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTGCATCACCGCCGCCCCC	0.697000													4	39					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101156521	101156521	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:101156521C>T	ENST00000259455.2	-	9	1773	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	438					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACTCTCCCACCTTCACCTCCC	0.572000													21	79					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132584	59132584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59132584C>T	ENST00000313940.2	+	1	700	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCATGATATCCTATGGCTAT	0.423000													7	108					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	89					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541742	96541742	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96541742C>T	ENST00000371321.3	+	5	889	c.807C>T	c.(805-807)atC>atT	p.I269I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	269					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTTCCTGATCAAAATGGAGA	0.353000													5	60					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382562	22382562	+	Silent	SNP	G	G	A	rs139049224		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:22382562G>A	ENST00000328795.4	+	1	181	c.90G>A	c.(88-90)ctG>ctA	p.L30L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTTGTGCTGATCTTAATTT	0.413000													19	130					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52928755	52928755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:52928755C>T	ENST00000354452.3	-	12	1543	c.932G>A	c.(931-933)gGa>gAa	p.G311E	TCF4_ENST00000570177.2_Missense_Mutation_p.G181E|TCF4_ENST00000544241.2_Missense_Mutation_p.G240E|TCF4_ENST00000457482.3_Missense_Mutation_p.G151E|TCF4_ENST00000566279.1_Missense_Mutation_p.G251E|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000570287.2_Missense_Mutation_p.G151E|TCF4_ENST00000564999.1_Missense_Mutation_p.G311E|TCF4_ENST00000565018.2_Missense_Mutation_p.G311E|TCF4_ENST00000356073.4_Missense_Mutation_p.G311E|TCF4_ENST00000537856.3_Missense_Mutation_p.G181E|TCF4_ENST00000398339.1_Missense_Mutation_p.G413E|TCF4_ENST00000540999.1_Missense_Mutation_p.G287E|TCF4_ENST00000564403.2_Missense_Mutation_p.G317E|TCF4_ENST00000564228.1_Missense_Mutation_p.G240E|TCF4_ENST00000568673.1_Missense_Mutation_p.G287E|TCF4_ENST00000566286.1_Missense_Mutation_p.G309E|TCF4_ENST00000561992.1_Missense_Mutation_p.G181E|TCF4_ENST00000567880.1_Missense_Mutation_p.G251E|TCF4_ENST00000537578.1_Missense_Mutation_p.G287E|TCF4_ENST00000543082.1_Missense_Mutation_p.G269E|TCF4_ENST00000568740.1_Missense_Mutation_p.G286E|TCF4_ENST00000561831.3_Missense_Mutation_p.G151E	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	311					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGCCCCGCTTCCTCTATTTGC	0.443000													21	208					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5566459C>T	ENST00000322653.4	-	1	320	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E99K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468000													9	67					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340883	55340883	+	Silent	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55340883C>A	ENST00000391728.4	+	7	1101	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	KIR3DL1_ENST00000541392.1_Silent_p.L339L|KIR3DL1_ENST00000538269.1_Silent_p.L356L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.L339L|KIR3DL1_ENST00000358178.4_Silent_p.L261L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcctcttctttctcc	0.522000													11	87					0.00010058	0.000101305	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37029310	37029310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37029310C>T	ENST00000358047.3	+	1	2879	c.2827C>T	c.(2827-2829)Ctc>Ttc	p.L943F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	943										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCATGGTACCTCAAGCCTAA	0.448000													22	75					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:38091654C>T	ENST00000261439.4	+	13	2507	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R812C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	718						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGGACATCTCGTGAGCTCCG	0.488000													9	63					0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154931799	154931799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:154931799G>A	ENST00000368457.2	-	3	848	c.677C>T	c.(676-678)cCt>cTt	p.P226L	PYGO2_ENST00000368456.1_Missense_Mutation_p.P189L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	226	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTCTGGAGAGGAGAAGGGCC	0.627000													4	33					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27206697	27206697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:27206697G>A	ENST00000380036.4	+	15	2924	c.2482G>A	c.(2482-2484)Gat>Aat	p.D828N	TEK_ENST00000406359.4_Missense_Mutation_p.D785N|TEK_ENST00000519097.1_Missense_Mutation_p.D680N	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	828	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAAATTTCAAGATGTGATTGG	0.458000													6	42					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957934	35957934	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35957934G>A	ENST00000341959.2	-	1	217	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TGTGCAGGCGGGAGTCAAGGA	0.547000													8	82					0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51183265	51183265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:51183265C>T	ENST00000216139.5	+	5	936	c.896C>T	c.(895-897)tCg>tTg	p.S299L	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	299					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATGATTCAATCGGCCACCCCT	0.602000													5	24					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228518	142228518	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:142228518G>A	ENST00000519067.1	-	4	1371	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	SLC45A4_ENST00000433583.2_Silent_p.A349A|SLC45A4_ENST00000024061.3_Silent_p.A356A|SLC45A4_ENST00000517878.1_Silent_p.A407A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	407					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)			AGCTCGACGTGGCCGAGGGCT	0.627000													4	53					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21390383	21390383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21390383G>A	ENST00000313654.9	+	13	1898	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G553R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	553	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAGTGACTGGACAGTGTGA	0.542000													9	101					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940043	22940043	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:22940043T>A	ENST00000397104.3	-	6	2287	c.2288A>T	c.(2287-2289)aAa>aTa	p.K763I						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATCTTATGTTTCCTAAGGGT	0.358000													4	39					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493513	150493513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150493513G>A	ENST00000447204.2	-	2	517	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	TMEM176B_ENST00000492607.1_Missense_Mutation_p.H49Y|TMEM176B_ENST00000326442.5_Missense_Mutation_p.H49Y|TMEM176B_ENST00000429904.2_Missense_Mutation_p.H49Y|TMEM176B_ENST00000450753.2_Missense_Mutation_p.H49Y|TMEM176B_ENST00000434545.1_Missense_Mutation_p.H49Y	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	49					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCCAGGGTGAAAAAGAAAC	0.562000													6	83					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084379	31084379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31084379G>A	ENST00000376288.2	-	2	1039	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	338	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGCTGCAAAGGAAGGGACCCC	0.552000													5	36					0	0	1	0	0
MGST1	4257	broad.mit.edu	37	12	16507210	16507210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:16507210G>A	ENST00000535309.1	+	2	63	c.24G>A	c.(22-24)atG>atA	p.M8I	MGST1_ENST00000396209.1_Missense_Mutation_p.M8I|MGST1_ENST00000396207.1_Missense_Mutation_p.M8I|MGST1_ENST00000396210.3_Missense_Mutation_p.M8I|MGST1_ENST00000010404.2_Missense_Mutation_p.M8I|MGST1_ENST00000540056.1_Missense_Mutation_p.M8I	NM_001267598.1	NP_001254527.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	8					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	CCCAGGTAATGGATGATGAAG	0.318000													5	30					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98164926	98164926	+	Missense_Mutation	SNP	C	C	T	rs146170505		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:98164926C>T	ENST00000370192.3	-	6	761	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	221					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAACATATTCTTGTTTTTCA	0.353000													13	88					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587601	37587601	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37587601G>A	ENST00000378616.3	+	3	1424	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	407					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CCTGTGAGCCGATAGGAAAGG	0.473000													5	23					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981983	61981983	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61981983G>A	ENST00000370263.4	-	5	1001	c.780C>T	c.(778-780)ctC>ctT	p.L260L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	260					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCAGCACGGTGAGGCAGGAGA	0.602000													7	95					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131150	147131150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:147131150G>A	ENST00000369238.5	-	4	931	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ACP6_ENST00000392988.2_Missense_Mutation_p.R162C	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	162					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TTAGTGGAACGAATACTGAAA	0.398000													8	77					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817437	2817437	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:2817437C>A	ENST00000301740.8	+	11	7457	c.6908C>A	c.(6907-6909)cCa>cAa	p.P2303Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2303	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGAACCCCAGCTGCCTTG	0.627000													34	308					6.45866e-13	6.5445e-13	1	1	0
RTP3	83597	broad.mit.edu	37	3	46542102	46542102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46542102C>T	ENST00000296142.3	+	2	984	c.412C>T	c.(412-414)Cct>Tct	p.P138S		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	138					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AGAGGAGGTTCCTATGATCAA	0.458000													4	91					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871769	13871769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13871769C>T	ENST00000265104.4	-	23	3606	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1168K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCAAATTCAGAAAGCAAG	0.403000									Kartagener syndrome				3	41					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75197555	75197555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75197555G>A	ENST00000336926.6	-	9	777	c.751C>T	c.(751-753)Cca>Tca	p.P251S	HIP1_ENST00000434438.2_Missense_Mutation_p.P251S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	251				KLHSCLP -> EFAAAST (in Ref. 6; CAA70574).	activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGTCAGCTGGGAGGCCTGGA	0.582000			T	PDGFRB	CMML								9	86					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087904	47087904	+	Missense_Mutation	SNP	C	C	T	rs143707760		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:47087904C>T	ENST00000374312.1	+	3	1540	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	NPY4R_ENST00000395716.1_Missense_Mutation_p.P374L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.P374L(1)									AGGTCCAATCCCATTTAACCA	0.587000													6	126					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075542	9075542	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9075542G>A	ENST00000397910.4	-	3	12107	c.11904C>T	c.(11902-11904)atC>atT	p.I3968I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3970	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						AGTGGGCTGGGATAGTGGAAT	0.493000													4	24					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7759080	7759080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:7759080G>A	ENST00000340209.4	+	12	1330	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	RBFOX1_ENST00000355637.4_Silent_p.P378P|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D361N|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D313N|RBFOX1_ENST00000535565.2_Silent_p.P314P|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D340N|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D340N|RBFOX1_ENST00000547372.1_Silent_p.P400P|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D361N|RBFOX1_ENST00000552089.1_Silent_p.P374P|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D383N			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	340					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTATGCTGCCGACCCCTACCA	0.473000													8	122					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120911337	120911337	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:120911337G>A	ENST00000310396.5	+	22	3188		c.e22-1			NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTCCAATCAGAGTGAAGTAC	0.318000													3	27					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975898	76975898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:76975898C>T	ENST00000409911.1	-	3	1922	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	LRRTM4_ENST00000409884.1_Missense_Mutation_p.G566S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G566S	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	566						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)		TGGTCTCGGCCCAGCTCCAGG	0.607000													26	180					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160124859	160124859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160124859G>A	ENST00000368081.4	+	3	703	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	78					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E78K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGGGCAAAGGAAATCCTGAC	0.507000													16	169					0	0	1	0	0
UPK1A	11045	broad.mit.edu	37	19	36168793	36168793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36168793G>A	ENST00000222275.2	+	6	728	c.728G>A	c.(727-729)tGg>tAg	p.W243*	UPK1A_ENST00000379013.2_3'UTR	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	243					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCCTGATGTGGACGGTGAGA	0.662000													5	61					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902995	74902995	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74902995C>T	ENST00000357877.2	+	12	1751	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	SEMA4F_ENST00000339773.5_Silent_p.F379F|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	534	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTGGAGCTTCCGGCTGGATG	0.592000													11	68					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205561330	205561330	+	Silent	SNP	C	C	T	rs147933600		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:205561330C>T	ENST00000367147.4	+	7	1305	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MFSD4_ENST00000536357.1_Silent_p.F317F|MFSD4_ENST00000539267.1_Silent_p.F404F	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	404					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTTCCTGTTCGTGGGGACGG	0.607000											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	62					0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74695435	74695435	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:74695435G>A	ENST00000373032.3	-	4	620	c.528C>T	c.(526-528)ccC>ccT	p.P176P		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	176					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TATTCATAAAGGGGCGGCAGC	0.502000													7	91					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371212	129371212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:129371212C>T	ENST00000421865.2	+	2	311	c.262C>T	c.(262-264)Caa>Taa	p.Q88*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	88	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATCTGCAATCAAAACAGCAG	0.448000													6	74					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70954960	70954960	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:70954960T>C	ENST00000359655.4	+	7	930	c.870T>C	c.(868-870)atT>atC	p.I290I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	290	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGCTGTAATTGATGAAATTC	0.363000													3	38					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87005030	87005030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87005030C>T	ENST00000331536.3	+	8	924	c.739C>T	c.(739-741)Cga>Tga	p.R247*	CROT_ENST00000419147.2_Nonsense_Mutation_p.R275*|CROT_ENST00000442291.1_Nonsense_Mutation_p.R247*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	247					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GGAGCGAACTCGATGGGCTAA	0.373000													6	81					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891372	18891372	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18891372A>G	ENST00000317658.3	+	1	328	c.170A>G	c.(169-171)cAa>cGa	p.Q57R		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	57					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CAACACTGCCAAAAATATTCT	0.438000													10	56					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354502	120354502	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:120354502G>A	ENST00000239032.2	-	2	393	c.255C>T	c.(253-255)atC>atT	p.I85I	PRLHR_ENST00000369169.1_Silent_p.I85I	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	85					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCACCCGCGCGATCACCAGCA	0.662000													14	134					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157545494	157545494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157545494C>T	ENST00000271532.1	-	11	1591	c.1456G>A	c.(1456-1458)Gat>Aat	p.D486N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	486						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTCACCTTATCCTCTAGAAGT	0.458000													6	144					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839871	27839871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:27839871C>T	ENST00000356790.2	+	3	693	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	150	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GAGCCAGTTCCCTGTAATCCT	0.438000													10	25					0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001260	13001260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:13001260C>T	ENST00000376189.1	-	3	522	c.423G>A	c.(421-423)atG>atA	p.M141I	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.M141I	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	141										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTCCTCTCATCCTTGGAC	0.512000													38	732					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145155	55145155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55145155G>A	ENST00000370862.3	+	6	1354	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	340					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAAGACAGAGAGACTGTGTA	0.363000													5	94					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290577	23290577	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23290577G>A	ENST00000358689.4	-	13	1948	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	ENTPD4_ENST00000417069.2_Silent_p.F563F|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	571					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GCACCACCAGGAAGCAGCCAG	0.652000													7	128					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906683	164906683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164906683G>A	ENST00000475390.1	-	2	2379	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P646S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	646						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCCCAGGAGGAGAAAACTCA	0.532000										HNSCC(40;0.11)			4	37					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832797	150832797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150832797G>A	ENST00000370357.4	+	11	1293	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	350						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGACCTGGGGGCTGCTGG	0.567000													3	9					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130064064	130064064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:130064064C>T	ENST00000278742.5	+	8	1314	c.896C>T	c.(895-897)cCc>cTc	p.P299L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	299	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCTACCCTCCCTCCTACAAC	0.587000													23	235					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167288875	167288875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:167288875C>T	ENST00000409855.1	-	15	2671	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	849					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCCTTATTATCCAGATTTTCT	0.378000													3	46					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747940	143747940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143747940G>A	ENST00000408906.2	+	1	480	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTCACTTCTTGGGCATGTGGT	0.522000													32	194					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350831	146350831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:146350831G>A	ENST00000392299.2	+	2	648	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GRM1_ENST00000361719.2_Missense_Mutation_p.E60K|GRM1_ENST00000492807.2_Missense_Mutation_p.E60K|GRM1_ENST00000507907.1_Missense_Mutation_p.E60K|GRM1_ENST00000355289.4_Missense_Mutation_p.E60K|GRM1_ENST00000282753.1_Missense_Mutation_p.E60K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	60					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCTCCGGCCGAGAAAGTGCC	0.592000													4	52					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185177	53185177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53185177C>T	ENST00000417996.2	-	7	1422	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	KRT3_ENST00000309505.3_Missense_Mutation_p.E450K	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	450	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCATGCTGCTCGGCCTCGGCA	0.612000													8	99					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106477677	106477677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:106477677C>T	ENST00000261402.2	-	4	1923	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	182	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGTATATTTTCCAGCTTCAAG	0.498000													6	80					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349785	134349785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:134349785C>T	ENST00000275230.5	-	2	1333	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	393						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTTTCCTGGTCCATAAATCAC	0.448000													12	116					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175434	112175434	+	Silent	SNP	A	A	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:112175434A>T	ENST00000457016.1	+	16	4523	c.4143A>T	c.(4141-4143)ccA>ccT	p.P1381P	APC_ENST00000257430.4_Silent_p.P1381P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.P1381P			P25054	APC_HUMAN	adenomatous polyposis coli	1381	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGAGACCCCACTCATGTTTA	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	66					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136196179	136196179	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:136196179G>A	ENST00000383202.2	-	10	1234	c.978C>T	c.(976-978)ttC>ttT	p.F326F	STAG1_ENST00000236698.5_Silent_p.F326F|STAG1_ENST00000434713.2_Silent_p.F100F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	326	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGTCATTTAGGAAGGCATCAC	0.358000													6	77					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68459033	68459033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:68459033G>A	ENST00000265404.2	+	8	867	c.785G>A	c.(784-786)gGa>gAa	p.G262E	STAP1_ENST00000396225.1_Missense_Mutation_p.G262E	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	262	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGACTCGAGGAAATTTAAGA	0.343000													9	111					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64684437	64684437	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64684437C>T	ENST00000421419.2	-	1	285	c.171_splice	c.e1+1	p.W57_splice	ATG2A_ENST00000377264.3_Splice_Site_p.W57_splice			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	57							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTCCTCACCCAGATTTCCA	0.647000													4	37					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119594328	119594328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:119594328C>T	ENST00000267260.4	+	13	1949	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	521	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.R521G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCCTACTATCGGCCCAGCCC	0.692000													9	58					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378816	51378816	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51378816G>A	ENST00000266037.9	+	38	3938	c.3915_splice	c.e38+1	p.K1305_splice		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1305	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACAAAGGCAAGGTATGCATCA	0.532000													3	33					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47945536	47945536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:47945536G>A	ENST00000289672.2	-	10	1476	c.1426C>T	c.(1426-1428)Cca>Tca	p.P476S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	476					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAATAGATGGAAAGTGATGT	0.368000													4	42					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690040	33690040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33690040C>T	ENST00000394566.1	-	4	1059	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E263K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	263						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAACATTTTCTTTTGCACAT	0.428000													15	134					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135053	33135053	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33135053G>A	ENST00000341947.2	-	57	4391	c.4164C>T	c.(4162-4164)ccC>ccT	p.P1388P	COL11A2_ENST00000374714.1_Silent_p.P1362P|COL11A2_ENST00000361917.1_Silent_p.P1281P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.P1307P|COL11A2_ENST00000374708.4_Silent_p.P1302P|COL11A2_ENST00000395197.1_Silent_p.P1328P|COL11A2_ENST00000357486.1_Silent_p.P1367P|COL11A2_ENST00000374713.1_Silent_p.P1341P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1388	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGACCTGGGGGCCCAGCCT	0.657000													6	88					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26029103	26029103	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:26029103A>C	ENST00000435504.4	-	4	540	c.247T>G	c.(247-249)Ttg>Gtg	p.L83V	ASXL2_ENST00000336112.4_Missense_Mutation_p.L55V|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTACCTTCAAAGTATATACT	0.393000													3	18					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961673	73961673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:73961673C>T	ENST00000373468.1	-	3	3370	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E907K			Q5QGS0	K2022_HUMAN	KIAA2022	907					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGGCTATCTCCCTTGAGACT	0.443000													3	12					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68268011	68268011	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:68268011C>T	ENST00000473183.2	-	3	866		c.e3-1		ESRP2_ENST00000565858.1_Splice_Site			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2						mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCTGTGAGAACTGGGGATAGG	0.602000													3	14					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114490225	114490225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:114490225C>A	ENST00000394779.3	-	9	1457	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	C9orf84_ENST00000318737.4_Nonsense_Mutation_p.E444*|C9orf84_ENST00000374287.3_Nonsense_Mutation_p.E444*|C9orf84_ENST00000394777.4_Nonsense_Mutation_p.E405*	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	444										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGGTACTTCTTTTGCCAGA	0.333000													3	28					0.0215528	0.0216146	1	1	0
ACD	65057	broad.mit.edu	37	16	67694180	67694180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67694180C>T	ENST00000219251.8	-	1	533	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	ACD_ENST00000393919.4_Missense_Mutation_p.A68T	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	68					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCGCCCAGGCCCCGCCTTTC	0.731000													4	48					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140264	78140264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:78140264G>A	ENST00000216489.3	-	6	1076	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	354					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGGTTCTAGAGGGAAATTCTG	0.498000													7	73					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646784	127646784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127646784G>A	ENST00000405109.1	+	3	1715	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*	KBTBD12_ENST00000407609.3_Nonsense_Mutation_p.W23*|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.W416*|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	416										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGGACAATTGGAAAAGGGTGT	0.383000													5	50					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760601	19760601	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19760601G>A	ENST00000357324.6	-	18	2510	c.2484C>T	c.(2482-2484)ctC>ctT	p.L828L	ATP13A1_ENST00000291503.5_Silent_p.L710L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	828					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						GGATGAGGCGGAGCAGCTGCT	0.687000													5	122					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836885	116836885	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116836885G>A	ENST00000368599.3	+	2	714	c.663G>A	c.(661-663)aaG>aaA	p.K221K	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	221						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ATGCACAAAAGGAGAAGGAGC	0.433000													6	61					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542622	126542622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126542622C>T	ENST00000339582.2	-	6	1938	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	GRM8_ENST00000444921.2_Missense_Mutation_p.R377K|GRM8_ENST00000405249.1_Missense_Mutation_p.R377K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R377K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	377					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGACTGTTCCTTTTCCCATG	0.358000										HNSCC(24;0.065)			7	71					0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616643	91616643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:91616643G>A	ENST00000375846.3	+	1	5223	c.528G>A	c.(526-528)tgG>tgA	p.W176*	S1PR3_ENST00000358157.2_Nonsense_Mutation_p.W176*			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	176					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCTGGGCTGGAACTGCCTGC	0.582000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	61					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476690	101476690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:101476690C>T	ENST00000341893.3	+	9	1992	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	CEP97_ENST00000327230.4_Missense_Mutation_p.P414S|CEP97_ENST00000494050.1_Missense_Mutation_p.P355S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	414	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGACTGTCTCCACTATCACC	0.473000													4	77					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763562	110763562	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110763562C>T	ENST00000368919.3	-	4	1134	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	SLC22A16_ENST00000330550.4_Silent_p.T322T|SLC22A16_ENST00000439654.1_Silent_p.T356T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	356					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTGTCCTTTTCGTAATGCTCC	0.393000													14	115					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852311	15852311	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15852311C>T	ENST00000305892.1	+	1	109	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTGATGTTCCTGTTCACATT	0.498000													24	222					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499527	103499527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:103499527C>T	ENST00000372588.4	-	1	87	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	2					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGAAGAGACTCCATGCTTCAA	0.587000													32	143					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371042	97371042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97371042G>A	ENST00000371224.2	-	16	2218	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.S692F	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	694	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	ATCCGTGTGGGAGCTGCCATA	0.522000													19	180					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139151	126139151	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:126139151C>T	ENST00000299308.3	+	9	3140	c.3132C>T	c.(3130-3132)atC>atT	p.I1044I	TMEM132B_ENST00000535886.1_Silent_p.I556I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1044						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCAACTCCATCCTGTTTGACA	0.498000													8	92					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39909778	39909778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39909778C>T	ENST00000325301.2	+	6	1266	c.842C>T	c.(841-843)tCc>tTc	p.S281F	SMCR7L_ENST00000404569.1_Missense_Mutation_p.S281F|SMCR7L_ENST00000402881.1_Missense_Mutation_p.S281F	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		281						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GCCATAGGGTCCCTCTTGGAC	0.557000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	102					0	0	1	0	0
TRAJ48	28707	broad.mit.edu	37	14	22959531	22959531	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22959531C>T	ENST00000390489.1	+	0	53																											CAAGACTCACCATCATACCCA	0.398000													6	22					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152522759	152522759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152522759G>A	ENST00000397345.3	-	41	5078	c.4876C>T	c.(4876-4878)Cac>Tac	p.H1626Y	NEB_ENST00000604864.1_Missense_Mutation_p.H1626Y|NEB_ENST00000172853.10_Missense_Mutation_p.H1626Y|NEB_ENST00000427231.2_Missense_Mutation_p.H1626Y|NEB_ENST00000603639.1_Missense_Mutation_p.H1626Y|NEB_ENST00000409198.1_Missense_Mutation_p.H1626Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1626					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGAGGTGTGTGGTACTTGGTC	0.473000													14	200					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754833	167754833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:167754833C>T	ENST00000239587.5	+	3	1533	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	482					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGTCCTGAAGCTGCACCTGCC	0.517000													8	128					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401429	140401429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:140401429C>T	ENST00000286349.3	+	2	658	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	156						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCCTGCACTCATTCATGCTG	0.577000													10	130					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12963211	12963211	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:12963211T>C	ENST00000262124.11	+	4	489	c.362T>C	c.(361-363)tTt>tCt	p.F121S	SEH1L_ENST00000399892.2_Missense_Mutation_p.F121S	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	121					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GATGTGAAGTTTGCTCCCAAG	0.363000													17	142					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32352053	32352053	+	Silent	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:32352053T>C	ENST00000315285.3	+	8	1260	c.1135T>C	c.(1135-1137)Tta>Cta	p.L379L	SPAST_ENST00000345662.1_Silent_p.L347L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	379	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGAGGGCTGTTACTCTTTGG	0.368000													4	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9012850	9012850	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9012850T>C	ENST00000397910.4	-	34	38797	c.38594A>G	c.(38593-38595)aAc>aGc	p.N12865S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12867	SEA 6.			Missing (in Ref. 3; AAK74120).	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						GTACTGCAGGTTGGTGATGGT	0.552000													10	259					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979457	2979457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2979457C>T	ENST00000396946.4	-	6	1193	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	264					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAACCTGCTCCTTCTTGGGC	0.512000			Mis		DLBCL								14	183					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207827177	207827177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:207827177G>A	ENST00000272852.3	+	7	662	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	206					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AACATTCTGTGGGACAGGGCC	0.443000													7	69					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641494	99641494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:99641494G>A	ENST00000345514.2	-	3	1732	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	BCL11B_ENST00000443726.2_Missense_Mutation_p.S366L|BCL11B_ENST00000357195.3_Missense_Mutation_p.S560L	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	560						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)		GCTCAGCTCCGAGTCCATGCT	0.726000			T	TLX3	T-ALL								3	8					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691383	26691383	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26691383G>A	ENST00000436292.1	-	4	774	c.654C>T	c.(652-654)caC>caT	p.H218H	ZNF683_ENST00000403843.1_Silent_p.H218H|ZNF683_ENST00000374204.1_Silent_p.H218H|ZNF683_ENST00000349618.3_Silent_p.H218H			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCATGAGGAGGTGGGGACATT	0.607000													12	68					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31092307	31092307	+	Silent	SNP	A	A	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31092307A>C	ENST00000394979.2	+	1	5085	c.4662A>C	c.(4660-4662)acA>acC	p.T1554T	ZNF646_ENST00000300850.5_Silent_p.T1554T			O15015	ZN646_HUMAN	zinc finger protein 646	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAACAAGACAGACCGACACT	0.552000													9	96					0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689406	60689406	+	Silent	SNP	C	C	T	rs143462464	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60689406C>T	ENST00000227525.3	+	4	904	c.501C>T	c.(499-501)atC>atT	p.I167I	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.I167I	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	167						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGCTTGTCATCTTCCTGGCCG	0.662000													15	125					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415188	77415188	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77415188C>T	ENST00000451710.3	-	17	2457	c.2220G>A	c.(2218-2220)agG>agA	p.R740R	TRPM6_ENST00000376864.4_Silent_p.R740R|TRPM6_ENST00000449912.2_Silent_p.R735R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.R740R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Silent_p.R735R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	740					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGAGTTTTTCCTCATTTTCA	0.393000													5	44					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895585	42895585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:42895585G>A	ENST00000399770.2	+	1	302	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	101					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACATTTTAAGCAAAAATGGC	0.428000													4	86					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389842	77389842	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:77389842G>A	ENST00000282849.5	-	9	1873	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	485	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATACCTGAGGAATTTCTTGA	0.473000													6	72					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736727	12736727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:12736727C>T	ENST00000380682.1	+	16	4288	c.3782C>T	c.(3781-3783)tCa>tTa	p.S1261L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1261					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TACATTCCTTCAGAGGAGAGA	0.597000													9	37					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813930	123813930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:123813930C>T	ENST00000321252.2	-	1	650	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCCAGTAACACCAACGTAGAG	0.532000													5	45					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678109	37678109	+	Silent	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:37678109G>A	ENST00000532828.2	-	5	581	c.330C>T	c.(328-330)atC>atT	p.I110I	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Silent_p.I55I|ZNF585B_ENST00000527838.1_Silent_p.I110I	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATAACCGATGATTTTTCTAT	0.353000													11	61					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93973581	93973581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:93973581G>A	ENST00000369303.4	-	9	1979	c.1795C>T	c.(1795-1797)Cat>Tat	p.H599Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	599						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACTTACAATGAAAGTAAAGC	0.348000													4	49					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973868	117973868	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:117973868C>T	ENST00000534111.1	+	4	469	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TMPRSS4_ENST00000523251.1_Silent_p.F30F|TMPRSS4_ENST00000522824.1_Silent_p.F70F|TMPRSS4_ENST00000437212.3_Silent_p.F70F|TMPRSS4_ENST00000522307.1_5'UTR	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	70	LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCTCCACTTCATCCCGAGGA	0.592000													14	196					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757789	116757789	+	Silent	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116757789C>T	ENST00000331677.3	+	7	2602	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	DSE_ENST00000452085.3_Silent_p.L720L|DSE_ENST00000537543.1_Silent_p.L739L|DSE_ENST00000359564.2_Silent_p.L720L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	720					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCACAAAATTCTGTTTGACCG	0.488000													12	133					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000829	142000829	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142000829C>T	ENST00000455382.2	+	0	83																											CCATGGATACCTGGCTCGTAT	0.488000													3	75					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025313	54025313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54025313C>T	ENST00000396328.1	-	2	273	c.34G>A	c.(34-36)Gga>Aga	p.G12R	WDR72_ENST00000559418.1_Missense_Mutation_p.G12R|WDR72_ENST00000557913.1_Missense_Mutation_p.G12R|WDR72_ENST00000360509.5_Missense_Mutation_p.G12R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	12										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCCTTCTGTCCCCAGAGTGCC	0.502000													11	69					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39453094	39453094	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:39453094G>C	ENST00000280481.7	+	23	9202	c.8986G>C	c.(8986-8988)Gac>Cac	p.D2996H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2996					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTTAAAGTCGACTCAACACC	0.418000													5	90					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100395359	100395359	+	RNA	SNP	C	C	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100395359C>T	ENST00000542585.1	+	0	8654				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTTAAGTTGCTCAGTTTTGA	0.453000													10	88					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724379	23724379	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23724379delG	ENST00000450454.2	-	6	619	c.513delC	c.(511-513)gcfs	p.A171fs		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	171	Ser-rich.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACATGGAAGAGGCAAACGTGG	0.542													7	88	---	---	---	---					
UGT2A3	79799	broad.mit.edu	37	4	69796888	69796888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:69796888delG	ENST00000251566.4	-	4	1099	c.1069delC	c.(1069-1071)agfs	p.Q357fs	UGT2A3_ENST00000420231.2_Frame_Shift_Del_p.Q68fs	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	357						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGATCATTCTGGGGTATCCAA	0.368													10	75	---	---	---	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttg>tt	p.FL264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													7	139	---	---	---	---					
TRIM4	89122	broad.mit.edu	37	7	99506323	99506325	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99506323_99506325delTCT	ENST00000355947.2	-	4	807_809	c.678_680delAGA	c.(676-681)gag>ga	p.EE226del	TRIM4_ENST00000349062.2_In_Frame_Del_p.EE200del|TRIM4_ENST00000354241.5_In_Frame_Del_p.EE200del	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	226					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTTCGTCTCTTCTTCTTCTT	0.443													7	92	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													2	4	---	---	---	---					
PRKAG2	51422	broad.mit.edu	37	7	151261265	151261266	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:151261265_151261266delTC	ENST00000287878.4	-	14	1986_1987	c.1482_1483delGA	c.(1480-1485)gtccfs	p.VT494fs	PRKAG2_ENST00000433631.2_Frame_Shift_Del_p.VT369fs|PRKAG2_ENST00000492843.1_Frame_Shift_Del_p.VT370fs|PRKAG2_ENST00000392801.2_Frame_Shift_Del_p.VT450fs|PRKAG2_ENST00000418337.2_Frame_Shift_Del_p.VT253fs	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	494					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGGCCTGGGTCACCGTGATAT	0.401													30	231	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:48866910delT	ENST00000314191.2	-	5	552	c.496delA	c.(496-498)tafs	p.I166fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTATCTGGTATTTTTTTTTTC	0.264								Non-homologous end-joining					3	6	---	---	---	---					
RP11-282I1.1	0	broad.mit.edu	37	10	125180198	125180198	+	RNA	DEL	G	G	-	rs60690334		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:125180198delG	ENST00000448347.1	+	0	586																											ATCGGGGGTcggggggggggg	0.602													2	4	---	---	---	---					
TCERG1L	256536	broad.mit.edu	37	10	133109585	133109587	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:133109585_133109587delGCG	ENST00000368642.4	-	1	397_399	c.312_314delCGC	c.(310-315)gcg>gc	p.AA104del		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	104	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gaaggggtgcgcggcggcggcgg	0.818													2	4	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)tag>tTGGAGGTGGCAGCGGCTTag	p.107_108insLEVAAA		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	107	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													3	5	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)ggfs	p.G98fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													7	244	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5472380	5472381	+	RNA	INS	-	-	GAG	rs138907592	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:5472380_5472381insGAG	ENST00000569895.1	+	0	304																											ggagcagagaagagaaatgagg	0.569													3	3	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67844040	67844040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:67844040delG	ENST00000255674.6	-	11	1633	c.1347delC	c.(1345-1347)acfs	p.T449fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.T449fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.T449fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	449							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGTAGCACATGGTTTCTCCAA	0.438													16	198	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703996	+	RNA	DEL	TT	TT	-	rs113703393		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53703995_53703996delTT	ENST00000597550.1	+	0	232																											TGTTTCCCCCtttttttttttt	0.475													4	5	---	---	---	---					
NCOA5	57727	broad.mit.edu	37	20	44691334	44691334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44691334delT	ENST00000290231.6	-	8	1509	c.1345delA	c.(1345-1347)gcfs	p.S450fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GATGCAGAGCTGCTATTGGCC	0.552													28	353	---	---	---	---