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
PCDHGB2	56103	broad.mit.edu	37	5	140742031	140742031	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:140742031G>A	ENST00000522605.1	+	1	2329	c.2329G>A	c.(2329-2331)Gcg>Acg	p.A777T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.A777T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGTTCCCGCGCAAGATCT	0.473000													31	155					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471280	56471280	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:56471280C>G	ENST00000370754.5	-	39	8046	c.8047G>C	c.(8047-8049)Gtg>Ctg	p.V2683L	DST_ENST00000446842.2_Missense_Mutation_p.V2179L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.V2505L|DST_ENST00000370769.4_Missense_Mutation_p.V2505L|DST_ENST00000312431.6_Missense_Mutation_p.V2505L			Q03001	DYST_HUMAN	dystonin	2505					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)			TGTCCATTCACCTTATCTGAG	0.373000													6	42					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:4870245C>T	ENST00000322101.2	-	1	269	c.194G>A	c.(193-195)cGc>cAc	p.R65H	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	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R65H(1)		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)		GTGCATTGGGCGGTGCAGGGC	0.572000													11	113					0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73083872	73083872	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:73083872G>C	ENST00000324941.4	+	2	396	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	VPS37D_ENST00000451519.1_Intron	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	88					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAAATACCAGGAGCTTCGTGA	0.682000													7	7					0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88601198	88601198	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:88601198G>A	ENST00000319555.3	+	10	3154	c.2832G>A	c.(2830-2832)ccG>ccA	p.P944P		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	944					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		aggccgtgccgcccccgccgg	0.821000													5	13					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	130					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155749202	155749202	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr4:155749202C>G	ENST00000281722.3	+	5	1820	c.1585C>G	c.(1585-1587)Cag>Gag	p.Q529E	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	529							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATCTCCAATCAGGCCTCCTT	0.333000													15	71					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349804	26349804	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:26349804G>A	ENST00000374280.3	+	1	1534	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	223					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCAGCCCGGGGTAGCCCT	0.687000													3	18					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42789003	42789003	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr20:42789003C>T	ENST00000372980.3	-	2	1296	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	142	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGCGTACTCCGTAGCCATGG	0.701000													3	21					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50866204	50866204	+	Silent	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr18:50866204T>C	ENST00000442544.2	+	15	2902	c.2286T>C	c.(2284-2286)taT>taC	p.Y762Y	DCC_ENST00000581580.1_Silent_p.Y417Y|DCC_ENST00000412726.1_Silent_p.Y610Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	762	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTATCGGTTATGGCGTTGGGA	0.468000													17	79					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72920822	72920822	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:72920822C>T	ENST00000331427.4	+	2	187	c.95C>T	c.(94-96)tCg>tTg	p.S32L	OTOP2_ENST00000580223.1_Missense_Mutation_p.S32L	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	32						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)					CGCCTGCTGTCGGTGCTGCTG	0.706000													11	7					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585853	41585853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:41585853C>T	ENST00000262415.3	+	16	2539	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.R823*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	823	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GATGCAGACCCGAATCTTTGA	0.488000													10	63					0	0	1	0	0
SPACA4	171169	broad.mit.edu	37	19	49110466	49110466	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:49110466C>T	ENST00000321762.1	+	1	467	c.231C>T	c.(229-231)gtC>gtT	p.V77V	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	77	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		AGGAACCCGTCAGCTACAGGG	0.672000													4	32					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60803789	60803789	+	Silent	SNP	C	C	T	rs143671650		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:60803789C>T	ENST00000335670.6	-	5	556	c.456G>A	c.(454-456)caG>caA	p.Q152Q	RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Silent_p.Q185Q|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000309157.4_Silent_p.Q177Q|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000449337.2_Silent_p.Q97Q|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	185					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTGTCTCTCTGCTTTTTTG	0.498000													17	47					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17947918	17947918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:17947918G>A	ENST00000381254.2	+	5	812	c.598G>A	c.(598-600)Gga>Aga	p.G200R	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.G200R	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	200	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCTCTGGTTGGATTAGCAAT	0.348000								Homologous recombination					29	70					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119052808	119052808	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:119052808C>G	ENST00000409109.1	+	9	2947	c.2360C>G	c.(2359-2361)tCc>tGc	p.S787C	NLRX1_ENST00000409991.1_Missense_Mutation_p.S787C|NLRX1_ENST00000525863.1_Missense_Mutation_p.S787C|NLRX1_ENST00000409265.4_Missense_Mutation_p.S787C|NLRX1_ENST00000292199.2_Missense_Mutation_p.S787C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	787	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTAGGCTGTCCAACAACCCG	0.627000													73	175					0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46726394	46726394	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:46726394G>C	ENST00000566860.1	+	2	436	c.149G>C	c.(148-150)aGa>aCa	p.R50T	ORC6_ENST00000568364.2_Missense_Mutation_p.R99T|ORC6_ENST00000219097.2_Missense_Mutation_p.R99T			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	99					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						ATTGGAATAAGAGACCTAGCT	0.348000													13	156					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363973	5363973	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:5363973C>T	ENST00000300773.2	-	1	836	c.782G>A	c.(781-783)cGt>cAt	p.R261H	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTCCAAAACGATGAATCAG	0.428000													5	86					0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512959	145512959	+	Silent	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:145512959G>C	ENST00000307404.5	-	2	155	c.126C>G	c.(124-126)ctC>ctG	p.L42L	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	42					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-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;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			TGCTGTGGCTGAGAGGAGAGG	0.617000													13	23					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98565208	98565208	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:98565208G>A	ENST00000359863.4	+	50	7587	c.7378G>A	c.(7378-7380)Gag>Aag	p.E2460K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E2442K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E2442K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2460					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)			AAAGTTTTTCGAGGTTTTTGA	0.547000													22	79					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175678	143175678	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:143175678C>A	ENST00000408916.1	+	1	713	c.713C>A	c.(712-714)tCc>tAc	p.S238Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	238					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)					TCCCTCATCTCCTTCCTCATT	0.502000													8	71					1.12685e-05	1.20456e-05	1	1	0
CPS1	1373	broad.mit.edu	37	2	211523362	211523362	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:211523362A>G	ENST00000233072.5	+	31	3902	c.3706A>G	c.(3706-3708)Atc>Gtc	p.I1236V	CPS1_ENST00000451903.2_Missense_Mutation_p.I785V|CPS1_ENST00000430249.2_Missense_Mutation_p.I1242V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1236	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)		GGCTTTTGCCATCTCTGGTCC	0.408000													6	41					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145718705	145718705	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:145718705C>A	ENST00000230732.4	+	1	119	c.30C>A	c.(28-30)ttC>ttA	p.F10L	RBM27_ENST00000506502.1_Silent_p.R996R|CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	10					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGCCTTTCGGCATGCACC	0.607000													15	68					0.00244969	0.00250747	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37428949	37428949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:37428949C>G	ENST00000234170.5	-	16	3268	c.3123G>C	c.(3121-3123)aaG>aaC	p.K1041N	AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1041					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTTAATCCTCTTCTTTTTAA	0.303000													13	26					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1571710	1571710	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:1571710C>T	ENST00000381333.4	-	1	112	c.24G>A	c.(22-24)ggG>ggA	p.G8G	ASMTL_ENST00000381317.3_Silent_p.G8G|ASMTL_ENST00000534940.1_Intron|ASMTL_ENST00000416733.2_5'UTR	NM_001173474.1	NP_001166945.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	8					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCAGCTTCCCAATCACCG	0.716000													5	19					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153179046	153179046	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:153179046C>G	ENST00000370028.3	-	10	1320	c.1263G>C	c.(1261-1263)aaG>aaC	p.K421N	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.K360N|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.K381N|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.K358N|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.K203N	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	381					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CCTTCAGAGTCTTGTTCACCT	0.617000													17	50					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237785	140237785	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:140237785G>A	ENST00000307360.5	+	1	2152	c.2152G>A	c.(2152-2154)Gca>Aca	p.A718T	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1														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)			GCTGTACACTGCACTGAGGTG	0.667000													26	79					0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167993103	167993103	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:167993103G>C	ENST00000239231.6	-	3	866	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	184					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ACAAGCAGTGGATAGGGATCA	0.438000													63	129					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726337	71726337	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:71726337C>G	ENST00000393695.3	-	15	2543	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E738Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	738					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						GCCTTCAGCTCAGAGATACAA	0.597000			T	RARA	APL								50	89					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681004	100681004	+	Missense_Mutation	SNP	C	C	G	rs142188663	byFrequency	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:100681004C>G	ENST00000306151.4	+	3	6371	c.6307C>G	c.(6307-6309)Cta>Gta	p.L2103V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2103	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)					AGGAAGTCCTCTACTAACAAG	0.502000													82	272					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77493965	77493965	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:77493965C>T	ENST00000238647.3	-	1	1069	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	57						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCGCCCGCTTCAGCTGGCGCG	0.692000													7	25					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232793	132232793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:132232793C>T	ENST00000265343.5	-	11	1908	c.1529G>A	c.(1528-1530)gGc>gAc	p.G510D	AFF4_ENST00000378595.3_Missense_Mutation_p.G510D	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	510					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCAGTGCCCTGCTCTCG	0.493000													59	161					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70551592	70551592	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:70551592G>A	ENST00000323786.5	-	3	327	c.306C>T	c.(304-306)atC>atT	p.I102I	COG4_ENST00000564653.1_Silent_p.I102I|COG4_ENST00000393612.4_Silent_p.I98I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	98	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGGTAAAGGTGATCATTCCAG	0.418000													10	95					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61719346	61719346	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:61719346G>A	ENST00000378042.3	+	0	648				BEST1_ENST00000449131.2_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.C23Y|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.C23Y			O76090	BEST1_HUMAN	bestrophin 1						response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTGCTGCTGTGCTGGCGGGGC	0.552000													11	78					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926585	61926585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:61926585C>A	ENST00000280772.2	-	22	2739	c.2548G>T	c.(2548-2550)Gaa>Taa	p.E850*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.E844*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.E833*|ANK3_ENST00000460468.1_Nonsense_Mutation_p.E17*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						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						TTCATACCTTCATCATCAGAC	0.323000													8	67					0.000442599	0.000457353	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507000													4	105					0.150653	0.152055	1	1	0
ASPHD1	253982	broad.mit.edu	37	16	29913072	29913072	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:29913072C>T	ENST00000308748.5	+	1	1032	c.780C>T	c.(778-780)tgC>tgT	p.C260C	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	260					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CAGGCCGGTGCCAACCCAGCA	0.667000													20	45					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473521	52473521	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:52473521C>A	ENST00000219746.9	-	7	1631	c.1347G>T	c.(1345-1347)caG>caT	p.Q449H	TOX3_ENST00000407228.3_Missense_Mutation_p.Q444H	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	449	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						gttgctgctgctgctgctgct	0.542000													4	23					0.00909568	0.00926649	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													4	50					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748075	94748075	+	Silent	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:94748075A>G	ENST00000399300.2	-	3	777	c.564T>C	c.(562-564)caT>caC	p.H188H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.H188H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	188	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGCCATCATGATGTTTTAAGA	0.368000													5	133					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56470443	56470443	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:56470443C>T	ENST00000370754.5	-	39	8883	c.8884G>A	c.(8884-8886)Gat>Aat	p.D2962N	DST_ENST00000446842.2_Missense_Mutation_p.D2458N|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.D2784N|DST_ENST00000370769.4_Missense_Mutation_p.D2784N|DST_ENST00000312431.6_Missense_Mutation_p.D2784N			Q03001	DYST_HUMAN	dystonin	2784					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)			ATGATGTGATCAAGAGATGAG	0.363000													9	167					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47402577	47402577	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr21:47402577G>A	ENST00000361866.3	+	2	241	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	43	N-terminal globular domain.|VWFA 1.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTTTGTGCTGGACACCTCTGA	0.622000													6	77					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389374	20389374	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:20389374T>G	ENST00000315915.4	+	1	634	c.609T>G	c.(607-609)agT>agG	p.S203R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	203					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)		TGGTCAATAGTGGAATTCTTT	0.413000													28	182					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149868144	149868144	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:149868144G>A	ENST00000435030.1	+	25	3196	c.2828G>A	c.(2827-2829)cGa>cAa	p.R943Q	KIF5C_ENST00000397413.1_Missense_Mutation_p.R711Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R848Q			O60282	KIF5C_HUMAN	kinesin family member 5C	943	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATGCCATTCGAGGGGGAGGA	0.517000													9	73					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356866	220356866	+	Silent	SNP	C	C	T	rs56175079		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:220356866C>T	ENST00000312358.7	+	40	9627	c.9495C>T	c.(9493-9495)gaC>gaT	p.D3165D	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3165	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGAGCCAGACCCCCAGGAAA	0.582000													16	64					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206402	121206402	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr3:121206402C>T	ENST00000264233.5	-	16	5504	c.5376G>A	c.(5374-5376)ggG>ggA	p.G1792G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1792					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)		TGTCTTTGAACCCATTTCTAC	0.373000								DNA polymerases (catalytic subunits)					23	58					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576666	149576666	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:149576666C>T	ENST00000230671.2	+	4	782	c.411C>T	c.(409-411)atC>atT	p.I137I	SLC6A7_ENST00000524041.1_Silent_p.I137I	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	137						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)	ACATGATCATCGCCTACGTGC	0.622000													12	88					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666599	50666599	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:50666599T>C	ENST00000371824.1	+	7	1107	c.850T>C	c.(850-852)Tgc>Cgc	p.C284R	ELAVL4_ENST00000357083.4_Missense_Mutation_p.C301R|ELAVL4_ENST00000371823.4_Missense_Mutation_p.C298R|ELAVL4_ENST00000371827.1_Missense_Mutation_p.C284R|ELAVL4_ENST00000371819.1_Missense_Mutation_p.C289R|ELAVL4_ENST00000448907.2_Missense_Mutation_p.C287R|ELAVL4_ENST00000371821.1_Missense_Mutation_p.C303R			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	298					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						AACTGGGTGGTGCATCTTTGT	0.532000													8	156					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101054	27101054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:27101054C>T	ENST00000324856.7	+	18	4707	c.4336C>T	c.(4336-4338)Cga>Tga	p.R1446*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1063*|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1446					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1446*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACTGAGCGCCGACCAGCAGG	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	89					0	0	1	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793522	30793522	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:30793522G>A	ENST00000458257.1	+	2	341	c.327G>A	c.(325-327)gcG>gcA	p.A109A	INMT_ENST00000409539.1_Silent_p.A109A|INMT_ENST00000013222.5_Silent_p.A110A|INMT_ENST00000484180.1_3'UTR																							GGACCCCAGCGGTGAAATTCG	0.582000													15	196					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825913	102825913	+	RNA	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:102825913G>C	ENST00000312132.4	-	0	3784																											TAATGTGGATGATTCACAATG	0.403000													14	45					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979648	46979648	+	Splice_Site	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr4:46979648C>A	ENST00000264318.3	-	4	1256		c.e4-1			NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGTGTATTCCTAGGACAATT	0.313000													5	50					0.00116845	0.00120167	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52863491	52863491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:52863491C>T	ENST00000252250.6	-	7	1434	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	463	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CGGTAGGTGGCGATCTCCACA	0.602000													7	209					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828142	1828142	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:1828142C>T	ENST00000170168.4	-	2	740	c.646G>A	c.(646-648)Gtt>Att	p.V216I	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	216						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCACTGGGAACGGGGCGGCTG	0.682000													6	109					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148341972	148341972	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:148341972C>T	ENST00000369202.1	-	6	798	c.601G>A	c.(601-603)Gag>Aag	p.E201K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E201K					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AGTGAGTCCTCAGGGACTTTG	0.502000													17	631					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14913552	14913552	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:14913552C>G	ENST00000334636.5	-	1	246	c.200G>C	c.(199-201)aGa>aCa	p.R67T		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	67					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GCTCTGCTTTCTCATGTAGAC	0.687000													3	30					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424294	56424294	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:56424294C>T	ENST00000588751.1	-	5	913	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E297K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	297	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGAACTCTTCAATGGGGGCA	0.408000													10	70					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100187618	100187618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:100187618C>A	ENST00000554176.1	+	6	1230	c.564C>A	c.(562-564)taC>taA	p.Y188*	CYP46A1_ENST00000423126.2_Nonsense_Mutation_p.Y244*|CYP46A1_ENST00000261835.3_Nonsense_Mutation_p.Y341*			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	341					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTAAGAGGTACCTGGATTTCG	0.552000													12	60					0.000308642	0.000321997	1	1	0
ABCB6	10058	broad.mit.edu	37	2	220075470	220075470	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:220075470G>A	ENST00000265316.3	-	16	2535	c.2219C>T	c.(2218-2220)aCc>aTc	p.T740I	ABCB6_ENST00000439002.2_Missense_Mutation_p.T694I	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	740	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGGATGGTGCGGGCAAT	0.632000													16	47					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429527	25429527	+	RNA	SNP	T	T	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:25429527T>G	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						AGGATTACGCTGAGGCCCAGC	0.507000													20	263					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18255988	18255988	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:18255988C>T	ENST00000262811.6	+	23	2901	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		PDZ.						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						TGCGGGCGATCCGCGTCTACA	0.632000													9	282					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101712284	101712284	+	Silent	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr13:101712284C>G	ENST00000251127.6	-	42	4872	c.4791G>C	c.(4789-4791)ctG>ctC	p.L1597L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1597						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)					GACTCTCTCTCAGGCTGTGGA	0.547000													6	71					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3893254	3893254	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr20:3893254G>C	ENST00000497424.1	+	4	823	c.512G>C	c.(511-513)gGa>gCa	p.G171A	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Missense_Mutation_p.G339A|PANK2_ENST00000316562.4_Missense_Mutation_p.G462A	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	462					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						GAGAGGTTTGGACTGCCAGGC	0.498000													12	68					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832745	61832745	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:61832745C>G	ENST00000280772.2	-	37	8085	c.7894G>C	c.(7894-7896)Gag>Cag	p.E2632Q	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)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.E2632Q(1)		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						AGCACTTTCTCAGGGCTGCTA	0.488000													34	57					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112641147	112641147	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:112641147C>T	ENST00000393104.2	+	4	527	c.167C>T	c.(166-168)tCa>tTa	p.S56L	PDCD4_ENST00000280154.7_Missense_Mutation_p.S67L	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	67					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	p.L63_S68delLRKNSS(1)		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)		AGGAAAAACTCATCCCGGGAC	0.463000													20	73					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136337	55136337	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:55136337G>C	ENST00000314706.3	+	1	978	c.978G>C	c.(976-978)atG>atC	p.M326I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	326					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						AAAGTGCCATGAGGAAACTTT	0.373000													10	106					0	0	1	0	0
SNORD114-9	767585	broad.mit.edu	37	14	101432419	101432419	+	RNA	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:101432419C>G	ENST00000364370.1	+	0	54					NR_003201.1																						GAATACGTGTCTGGAACTCTG	0.398000													32	127					0	0	1	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55174709	55174709	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:55174709G>A	ENST00000414150.2	+	23	3968	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E	MROH7_ENST00000454855.2_Silent_p.E748E|MROH7_ENST00000409996.1_Silent_p.E798E|MROH7_ENST00000421030.2_Silent_p.E1230E																							CCTGCATGGAGAGCATAATGA	0.517000													42	95					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89311972	89311972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr4:89311972C>A	ENST00000380265.5	+	4	788	c.605C>A	c.(604-606)tCg>tAg	p.S202*	HERC6_ENST00000264346.7_Nonsense_Mutation_p.S202*|HERC6_ENST00000273960.3_Nonsense_Mutation_p.S202*	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	202					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TGTGGGACTTCGTTTGGCTGG	0.587000													8	44					0.000442599	0.000457353	1	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117774463	117774463	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:117774463G>A	ENST00000528626.1	-	11	1552	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	TMPRSS13_ENST00000524993.1_Silent_p.V528V|TMPRSS13_ENST00000430170.2_Silent_p.V528V|TMPRSS13_ENST00000445164.2_Silent_p.V528V	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	523	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCAGCTGGTGACACCTGCCA	0.572000													7	6					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722374	7722374	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:7722374C>T	ENST00000572933.1	+	71	12268	c.10808C>T	c.(10807-10809)gCg>gTg	p.A3603V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3603V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3603					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)				ACTGACTTGGCGCGGGAGGTA	0.602000													18	15					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	62					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100951716	100951716	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr3:100951716G>A	ENST00000193391.7	-	15	3329	c.3142C>T	c.(3142-3144)Cgg>Tgg	p.R1048W		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1048	EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGACAGGGCCGTTCTTCCACA	0.498000													8	66					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368617	18368617	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:18368617G>A	ENST00000392413.4	-	4	3692	c.3477C>T	c.(3475-3477)ctC>ctT	p.L1159L	KIAA1683_ENST00000600359.3_Silent_p.L926L|KIAA1683_ENST00000600328.3_Silent_p.L972L	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683		IQ 6.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGCTCTGCAGAGGTGTGCCA	0.697000													14	79					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719068	52719068	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:52719068G>C	ENST00000322088.6	+	7	902	c.844G>C	c.(844-846)Gac>Cac	p.D282H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.D227H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.D103H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	282	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACcaagacagacctggtccc	0.597000			Mis		clear cell ovarian carcinoma								13	86					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547135	132547135	+	Silent	SNP	G	G	A	rs144787206	byFrequency	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:132547135G>A	ENST00000333577.4	+	48	8440	c.8331G>A	c.(8329-8331)caG>caA	p.Q2777Q	EP400_ENST00000389561.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2660Q|EP400_ENST00000332482.4_Silent_p.Q2704Q|EP400_ENST00000389562.2_Silent_p.Q2740Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	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			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)		agcagcagcagcaacagcagc	0.592000													4	107					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251674	216251674	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:216251674G>A	ENST00000366943.2	-	27	5715	c.5329C>T	c.(5329-5331)Cgg>Tgg	p.R1777W	USH2A_ENST00000307340.3_Missense_Mutation_p.R1777W|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1777	Laminin G-like 2.				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)		GTATTTAACCGGAAGGTCAAT	0.378000										HNSCC(13;0.011)			30	424					0	0	1	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361770	5361770	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr9:5361770G>C	ENST00000223864.2	-	4	421	c.200C>G	c.(199-201)tCt>tGt	p.S67C	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	67						integral to membrane											AGCTGTTAAAGAGATGGCTGC	0.373000													24	47					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58145263	58145263	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:58145263G>A	ENST00000544273.1	+	2	404	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000347302.3_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000299871.5_Intron			Q13398	ZN211_HUMAN	zinc finger protein 211	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		actaaggaccgaggcgcacag	0.542000													5	37					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267238	123267238	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:123267238T>A	ENST00000451558.1	+	11	1293	c.772T>A	c.(772-774)Tgc>Agc	p.C258S	ASB15_ENST00000451215.1_Missense_Mutation_p.C258S|ASB15_ENST00000540573.1_Missense_Mutation_p.C258S|ASB15_ENST00000434204.1_Missense_Mutation_p.C258S|ASB15_ENST00000275699.3_Missense_Mutation_p.C258S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	258					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAATCCCGACTGCATTTCCCT	0.532000													25	57					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132223557	132223557	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:132223557C>T	ENST00000265343.5	-	16	3293	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	972					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCACCGTCTCTGAATACATA	0.393000													33	97					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37829377	37829377	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:37829377G>A	ENST00000300658.4	-	7	918	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	PGAP3_ENST00000378011.4_Missense_Mutation_p.P225S|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000429199.2_Missense_Mutation_p.P255S	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	276					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						CAGAAGAGCGGTGGGAAGTCA	0.642000													5	27					0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40096007	40096007	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:40096007C>T	ENST00000221797.4	+	3	327	c.282C>T	c.(280-282)taC>taT	p.Y94Y		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	94	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGTGCATCTACGTACATTACA	0.512000													4	41					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42095597	42095597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr22:42095597G>T	ENST00000401548.3	+	1	95	c.55G>T	c.(55-57)Gag>Tag	p.E19*	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	19							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGAGAGGAAGAGGCGGCGCT	0.711000													11	44					1.49906e-05	1.59459e-05	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44665921	44665921	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr20:44665921G>A	ENST00000243964.3	+	6	607	c.509G>A	c.(508-510)aGg>aAg	p.R170K	SLC12A5_ENST00000454036.2_Missense_Mutation_p.R193K|SLC12A5_ENST00000372315.1_Missense_Mutation_p.R170K	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	193					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)	ATGATTTCCAGGTCTCTGGGC	0.597000													25	114					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86267649	86267649	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:86267649G>A	ENST00000543262.1	-	4	739	c.413C>T	c.(412-414)aCg>aTg	p.T138M	ME3_ENST00000393324.3_Missense_Mutation_p.T138M|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.T76M|ME3_ENST00000359636.2_Missense_Mutation_p.T138M	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	138					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CACGGTAGGCGTGTACACGAT	0.587000													10	47					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42731931	42731931	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:42731931C>T	ENST00000263805.4	-	8	4101	c.3775G>A	c.(3775-3777)Gag>Aag	p.E1259K	ZNF106_ENST00000565380.1_Missense_Mutation_p.E487K|ZNF106_ENST00000565611.1_Missense_Mutation_p.E444K	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		TGGCTAGGCTCATGGAAACTT	0.408000													7	64					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31227428	31227428	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr13:31227428T>A	ENST00000255304.4	+	8	1724	c.1382T>A	c.(1381-1383)aTt>aAt	p.I461N		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	461					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATAACATGGATTTTAGATGCT	0.313000													6	60					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100826912	100826912	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:100826912C>T	ENST00000355338.2	-	4	1019	c.401G>A	c.(400-402)aGa>aAa	p.R134K	WARS_ENST00000344102.5_Missense_Mutation_p.R93K|WARS_ENST00000557135.1_Missense_Mutation_p.R134K|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Missense_Mutation_p.R93K|WARS_ENST00000556645.1_Missense_Mutation_p.R93K|WARS_ENST00000392882.2_Missense_Mutation_p.R134K	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	134					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GAAGATGCCTCTGCGCAGGAA	0.448000													15	95					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944508	23944508	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:23944508G>C	ENST00000397154.3	+	4	286	c.273G>C	c.(271-273)gaG>gaC	p.E91D	NGDN_ENST00000408901.3_Missense_Mutation_p.E91D			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	91	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GACTGGTGGAGATTCGCACGG	0.448000													8	68					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909049	123909049	+	Silent	SNP	G	G	A	rs12291067	byFrequency	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:123909049G>A	ENST00000330487.5	-	1	668	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		TGGAACAGACGATGGACACAT	0.557000													13	104					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283453	33283453	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:33283453C>G	ENST00000431845.2	-	2	1392	c.1241G>C	c.(1240-1242)cGa>cCa	p.R414P	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R414P	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AAGGAGCGGTCGAGGAGGGTG	0.607000													72	259					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833539	139833539	+	Missense_Mutation	SNP	C	C	T	rs146329974		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:139833539C>T	ENST00000303045.6	-	7	1531	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R362Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	362	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGCCAGTCCCGGTCAAAGAG	0.567000										HNSCC(7;0.00092)			7	129					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769043	31769043	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:31769043G>A	ENST00000240587.4	-	2	1983	c.1656C>T	c.(1654-1656)gcC>gcT	p.A552A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	552					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTTGGTAGGCGGCATGGATGC	0.552000													4	122					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49081856	49081856	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr3:49081856G>C	ENST00000395443.2	-	6	2225	c.1753C>G	c.(1753-1755)Ctg>Gtg	p.L585V	QRICH1_ENST00000357496.2_Missense_Mutation_p.L585V|QRICH1_ENST00000424300.1_Missense_Mutation_p.L585V|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	585										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATCCTTCAGAACTTCATGT	0.398000													39	219					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11596503	11596503	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:11596503T>C	ENST00000293771.5	-	7	1674	c.1538A>G	c.(1537-1539)aAc>aGc	p.N513S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCGCAGGTGGTTGGATAAATA	0.582000													14	119					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18572886	18572886	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr18:18572886G>C	ENST00000399799.2	-	17	2838	c.1898C>G	c.(1897-1899)tCt>tGt	p.S633C		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTTGTAAAGATGTAATTCG	0.323000													3	24					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100910852	100910852	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:100910852C>G	ENST00000328766.5	-	5	2176	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	ARMCX2_ENST00000330154.2_Missense_Mutation_p.E575Q|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E575Q	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	575						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TAGATAATCTCAAATAGAGTA	0.353000													26	65					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501472	45501472	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:45501472C>G	ENST00000359600.5	-	10	2384	c.2179G>C	c.(2179-2181)Gaa>Caa	p.E727Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	727							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGATGACTTCTCCCAGACCG	0.493000													13	63					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203690370	203690370	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:203690370A>G	ENST00000357681.5	+	17	3767	c.2644A>G	c.(2644-2646)Atg>Gtg	p.M882V	ATP2B4_ENST00000391954.2_Missense_Mutation_p.M882V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.M882V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.M870V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.M882V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	882					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAATCTGATCATGGACACTTT	0.522000													8	93					0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69140258	69140258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:69140258G>C	ENST00000398004.2	+	1	373	c.101G>C	c.(100-102)tGg>tCg	p.W34S		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	34						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CTCAACAAATGGATTTATGTG	0.562000													8	166					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461257	66461257	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:66461257G>A	ENST00000404260.3	+	29	6567	c.6259G>A	c.(6259-6261)Gaa>Aaa	p.E2087K	MAST4_ENST00000403625.2_Missense_Mutation_p.E2084K|MAST4_ENST00000405643.1_Missense_Mutation_p.E1905K|MAST4_ENST00000261569.7_Missense_Mutation_p.E1890K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1895K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2087						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACCCAAGCCCGAAGCGCTTCT	0.582000													15	98					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153006711	153006711	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:153006711C>A	ENST00000263904.4	-	2	422	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	25	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AGACTCCAATCTTCTGTAGTG	0.363000													8	15					0.000274275	0.000287525	1	1	0
FLG	2312	broad.mit.edu	37	1	152280602	152280602	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:152280602C>G	ENST00000368799.1	-	3	6795	c.6760G>C	c.(6760-6762)Gaa>Caa	p.E2254Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2254	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)			TCAGAATCTTCTGAGTGTCCC	0.582000									Ichthyosis				189	237					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156819902	156819902	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:156819902C>T	ENST00000347377.6	+	31	4087	c.3656C>T	c.(3655-3657)gCc>gTc	p.A1219V	CYFIP2_ENST00000541131.1_Missense_Mutation_p.A1144V|CYFIP2_ENST00000521420.1_Missense_Mutation_p.A1193V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.A1219V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.A1023V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.A918V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.A1244V|CYFIP2_ENST00000442283.2_3'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1244					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGTTTTTGCCATCCTGAAC	0.517000													4	133					0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151825984	151825984	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:151825984C>T	ENST00000368817.5	-	1	189	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_182578.3	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	20							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)			CGGGGGGCCTCAAGAAGGCCT	0.572000													91	97					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619113	57619113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:57619113C>T	ENST00000374888.1	+	1	845	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTGATCGCCCCGCAAGCTGGG	0.731000													3	19					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5787612	5787612	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:5787612G>A	ENST00000309061.7	-	6	1296	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	DUS3L_ENST00000320699.8_Silent_p.L158L	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	400					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCTTGTACACGAGGTCGATGG	0.652000													15	99					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99204041	99204041	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:99204041C>T	ENST00000409016.4	+	26	3184	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P	INPP4A_ENST00000074304.5_Silent_p.P968P|INPP4A_ENST00000523221.1_Silent_p.P968P|INPP4A_ENST00000545415.1_Silent_p.P929P|INPP4A_ENST00000409851.3_Silent_p.P963P|INPP4A_ENST00000409463.1_Silent_p.P297P			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P968P(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACAGGCCTCCCGAAGGGACTT	0.413000													9	86					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75656948	75656948	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:75656948T>C	ENST00000565683.1	-	5	492	c.481A>G	c.(481-483)Atg>Gtg	p.M161V	MAN2C1_ENST00000569482.1_Missense_Mutation_p.M161V|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000267978.5_Missense_Mutation_p.M161V|MAN2C1_ENST00000563622.1_Missense_Mutation_p.M161V	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	161					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGCAATCATGCTTCCCTTC	0.592000													4	37					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63492068	63492068	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr18:63492068G>A	ENST00000536984.2	+	6	1675		c.e6+1		CDH7_ENST00000323011.3_Splice_Site|CDH7_ENST00000397968.2_Splice_Site			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TATACAGAAGGTAATGTTTTC	0.368000													5	43					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188240	57188240	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:57188240C>A	ENST00000331162.4	-	5	1152	c.882G>T	c.(880-882)gaG>gaT	p.E294D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	294					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)			TGTAGGGTCTCTCTCCAGTAT	0.473000													26	55					3.69857e-22	4.11584e-22	1	1	0
DENND2A	27147	broad.mit.edu	37	7	140221655	140221655	+	Splice_Site	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:140221655C>G	ENST00000275884.6	-	17	3328	c.2911G>C	c.(2911-2913)Ggt>Cgt	p.G971R	DENND2A_ENST00000496613.1_Splice_Site_p.G971R|DENND2A_ENST00000537639.1_Splice_Site_p.G971R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	971										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)					TGCCCCTCACCTTTGGCATCC	0.597000													25	85					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937375	43937375	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:43937375C>T	ENST00000282406.4	+	13	2230	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	707	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding	p.S707F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGAAAAATCTGGTTATTTA	0.348000													26	61					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204594492	204594492	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:204594492C>G	ENST00000324106.8	+	3	680	c.531C>G	c.(529-531)ttC>ttG	p.F177L	CD28_ENST00000374478.4_Missense_Mutation_p.F58L|CD28_ENST00000458610.2_Missense_Mutation_p.F191L|CD28_ENST00000374481.3_Missense_Mutation_p.F93L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTATTATTTTCTGGGTAAGAG	0.423000													13	140					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613668	2613668	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:2613668T>C	ENST00000399634.1	+	8	1180	c.1180T>C	c.(1180-1182)Ttt>Ctt	p.F394L	CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F394L|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.F394L|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.F394L|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Missense_Mutation_p.F394L	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	394					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTTTGGATCCTTTTTCGTTCT	0.488000													4	163					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59623430	59623430	+	Silent	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:59623430A>G	ENST00000257264.3	-	6	953	c.849T>C	c.(847-849)aaT>aaC	p.N283N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	283					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)	CAGCGTTTGGATTGCTGAATG	0.423000													8	101					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99237112	99237112	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:99237112C>T	ENST00000438925.2	-	6	820	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	MMS19_ENST00000327238.10_Missense_Mutation_p.R162Q|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R162Q|MMS19_ENST00000355839.6_Missense_Mutation_p.R162Q|MMS19_ENST00000327277.7_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	162					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ACCTTCTTCCCGGGTTCGCAT	0.453000								Direct reversal of damage					15	66					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382107	152382107	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:152382107C>T	ENST00000271835.3	-	3	1513	c.1451G>A	c.(1450-1452)aGa>aAa	p.R484K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	484					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATACAGCTCTCTAGCTGTGAT	0.542000													33	56					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376633	8376633	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:8376633C>G	ENST00000538603.1	-	5	860	c.302G>C	c.(301-303)gGa>gCa	p.G101A	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G101A	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	101							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTCCTTCTCTCCCTTATCCTT	0.537000													35	275					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121737632	121737632	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr4:121737632T>C	ENST00000264808.3	-	7	1081	c.841A>G	c.(841-843)Aga>Gga	p.R281G	PRDM5_ENST00000515109.1_Missense_Mutation_p.R250G|PRDM5_ENST00000428209.2_Missense_Mutation_p.R250G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	281					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGGTGTCTTTTCAGGGCA	0.542000													4	80					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28383109	28383109	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:28383109T>A	ENST00000394835.3	+	12	2492	c.2300T>A	c.(2299-2301)aTg>aAg	p.M767K	EFCAB5_ENST00000378738.3_Missense_Mutation_p.M767K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.M767K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.M711K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.M424K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.M767K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	767							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AACTGGAAAATGAAGTATGTC	0.338000													3	33					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39923135	39923135	+	Silent	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:39923135C>G	ENST00000378444.4	-	8	3801	c.3573G>C	c.(3571-3573)ctG>ctC	p.L1191L	BCOR_ENST00000378463.1_Intron|BCOR_ENST00000378455.4_Intron|BCOR_ENST00000397354.3_Intron|BCOR_ENST00000342274.4_Intron	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1191					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCAGGTTGGTCAGCTCACTAT	0.448000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	63					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821764	5821764	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:5821764G>A	ENST00000381095.3	-	5	1582	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	NLGN4X_ENST00000275857.6_Missense_Mutation_p.R319W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R319W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R319W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R339W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	319					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						TTCTTGTTCCGCAGGCATTCT	0.587000													8	151					0	0	1	0	0
MIR542	664617	broad.mit.edu	37	X	133675445	133675445	+	RNA	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:133675445A>G	ENST00000385050.1	-	0	22					NR_030399.1																						TGACATGATGATCCCCGAGAT	0.413000													16	102					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156255359	156255359	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:156255359C>T	ENST00000405535.2	+	2	513	c.342C>T	c.(340-342)ccC>ccT	p.P114P	TMEM79_ENST00000295694.5_Silent_p.P114P|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	114						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)					AGGAGCTGCCCGAAGACGATG	0.612000													4	123					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912568	29912568	+	Silent	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:29912568C>G	ENST00000308748.5	+	1	528	c.276C>G	c.(274-276)ctC>ctG	p.L92L	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	92					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCCTGTTCCTCTGGTACTGCT	0.682000													50	112					0	0	1	0	0
PDCD5	9141	broad.mit.edu	37	19	33078169	33078169	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:33078169G>A	ENST00000590247.2	+	6	535	c.341G>A	c.(340-342)aGa>aAa	p.R114K	PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000379316.3_Missense_Mutation_p.E39K|PDCD5_ENST00000586035.1_Missense_Mutation_p.R76K|PDCD5_ENST00000592786.1_3'UTR	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					TTCAACAGAAGAAAAGTAATG	0.348000													12	63					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074739	59074739	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:59074739G>A	ENST00000215057.2	-	6	1465	c.905C>T	c.(904-906)gCg>gTg	p.A302V	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_Intron|MZF1_ENST00000599369.1_Missense_Mutation_p.A302V|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	302					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AAGCGCATGCGCAAAGCCACC	0.652000													3	19					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421108	53421108	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr13:53421108G>A	ENST00000377942.3	-	1	1667	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	PCDH8_ENST00000338862.4_Silent_p.G488G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	488	Cadherin 4.				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)		CGTTCTCGTCGCCCACACGCA	0.706000													6	9					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357778	121357778	+	Missense_Mutation	SNP	G	G	A	rs111681773		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:121357778G>A	ENST00000297848.3	+	45	5323	c.5053G>A	c.(5053-5055)Gtg>Atg	p.V1685M	COL14A1_ENST00000309791.4_Missense_Mutation_p.V1685M|COL14A1_ENST00000247781.3_Missense_Mutation_p.V1590M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1685	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAATGCAGGCGTGCCAGGGAC	0.612000													23	45					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310474	56310474	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:56310474G>C	ENST00000528616.2	-	1	283	c.260C>G	c.(259-261)tCt>tGt	p.S87C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GGTCTTCTCAGATACGATATT	0.448000													4	68					0	0	1	0	0
YWHAH	7533	broad.mit.edu	37	22	32352416	32352416	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr22:32352416G>T	ENST00000248975.5	+	2	651	c.378G>T	c.(376-378)atG>atT	p.M126I	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	126					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						ACCTGAAAATGAAGGGTGATT	0.448000													7	43					0.0381472	0.038682	1	1	0
PPIL2	23759	broad.mit.edu	37	22	22049238	22049238	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr22:22049238C>T	ENST00000335025.8	+	19	1436	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	PPIL2_ENST00000456792.2_Missense_Mutation_p.R428W|PPIL2_ENST00000412327.1_Missense_Mutation_p.R449W|PPIL2_ENST00000492445.2_Missense_Mutation_p.R449W|PPIL2_ENST00000398831.3_Missense_Mutation_p.R449W|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000406385.1_Missense_Mutation_p.R449W			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					TGCGCAGGAGCGGAAGACACA	0.647000													11	199					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60749749	60749749	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:60749749G>A	ENST00000395076.4	+	2	758	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PPM1A_ENST00000325642.3_Missense_Mutation_p.E183K|PPM1A_ENST00000529574.1_Missense_Mutation_p.E110K|PPM1A_ENST00000325658.3_Missense_Mutation_p.E110K	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	110					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GGAGATTGATGAACACATGAG	0.393000													6	91					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531852	190531852	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:190531852T>A	ENST00000260952.4	+	4	1407	c.994T>A	c.(994-996)Tcc>Acc	p.S332T	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	332	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGGCATTGATTCCATGGTTAT	0.398000													37	179					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51773227	51773227	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:51773227C>G	ENST00000251076.5	-	24	6363	c.6076G>C	c.(6076-6078)Gag>Cag	p.E2026Q	DMXL2_ENST00000543779.2_Missense_Mutation_p.E2026Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1390Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2026						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)		GGATCATCCTCTTCCTGAGGT	0.383000													9	107					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977306	30977306	+	Missense_Mutation	SNP	G	G	A	rs150802841		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:30977306G>A	ENST00000262519.8	+	8	2790	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ATTGATTGCCGCCTCAGCTGG	0.632000													17	144					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521880	14521880	+	Silent	SNP	G	G	A	rs142002555	byFrequency	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:14521880G>A	ENST00000242776.4	-	5	635	c.534C>T	c.(532-534)ctC>ctT	p.L178L	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Silent_p.L178L	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	178	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TATTCCGCACGAGCGCCAGGA	0.557000													20	139					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35824909	35824909	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:35824909C>G	ENST00000314607.6	+	3	549	c.469C>G	c.(469-471)Cta>Gta	p.L157V	ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.L157V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	157					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATTTTAGTCTAGTAAGAGA	0.294000													5	24					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29571453	29571453	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:29571453G>A	ENST00000377034.4	-	23	3088	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	GABBR1_ENST00000377016.4_Missense_Mutation_p.S856F|GABBR1_ENST00000377012.4_Missense_Mutation_p.S801F|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.S801F	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	918				Missing (in Ref. 7; CAA09031).	gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CTGCTGCCGAGACTGGAGTTG	0.637000													4	18					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039323	248039323	+	Silent	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:248039323A>G	ENST00000366481.3	+	6	1041	c.993A>G	c.(991-993)acA>acG	p.T331T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	331	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATTTGACACATGGCCCTGCA	0.592000													7	83					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51475822	51475822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:51475822G>A	ENST00000298355.3	-	5	2403	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Q428*|TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Q428*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	428	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAATCCAGCTGGTGGATGGAT	0.532000													5	82					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004283	41004283	+	Missense_Mutation	SNP	C	C	T	rs145567714	byFrequency	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:41004283C>T	ENST00000308423.2	+	1	1083	c.923C>T	c.(922-924)cCg>cTg	p.P308L		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	308					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)	CCTGTGCCCCCGGGTCCAGCT	0.632000													7	62					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104187022	104187022	+	Silent	SNP	G	G	A	rs61763005	byFrequency	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:104187022G>A	ENST00000392876.3	-	9	979	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	313							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTTTCCCAACGATATAACTCA	0.413000													22	201					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869716	47869716	+	Silent	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:47869716G>C	ENST00000289672.2	-	43	6530	c.6480C>G	c.(6478-6480)ggC>ggG	p.G2160G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2160					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						ATTGCTCCTGGCCAAACCTGC	0.577000													14	66					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93072985	93072985	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:93072985G>A	ENST00000359558.2	-	11	1134	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	CALCR_ENST00000394441.1_Missense_Mutation_p.H245Y|CALCR_ENST00000360249.4_Missense_Mutation_p.H261Y|CALCR_ENST00000426151.1_Missense_Mutation_p.H245Y|CALCR_ENST00000421592.1_Missense_Mutation_p.H261Y	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	261					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATGAGTGTATGAAGATAGATC	0.443000													28	91					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171077239	171077239	+	Silent	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:171077239C>A	ENST00000367755.4	+	5	615	c.504C>A	c.(502-504)ggC>ggA	p.G168G	FMO3_ENST00000392085.2_Silent_p.G168G|FMO3_ENST00000538429.1_Silent_p.G105G|FMO3_ENST00000542847.1_Silent_p.G148G	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	168					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)					ACTTTAAAGGCAAATGCTTCC	0.428000													4	139					1	1	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56400102	56400102	+	Silent	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:56400102G>T	ENST00000355701.3	-	9	2100	c.1230C>A	c.(1228-1230)ctC>ctA	p.L410L	BZRAP1_ENST00000343736.4_Silent_p.L410L|BZRAP1_ENST00000268893.6_Silent_p.L350L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	410						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACCCCCAGGAGCTGGCCCC	0.647000													65	77					3.94839e-29	4.4165e-29	1	1	0
SEC22B	9554	broad.mit.edu	37	1	145109564	145109564	+	RNA	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:145109564G>A	ENST00000453618.1	+	0	553							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GGTTTTATGTGAAGCTGCCTT	0.433000													53	416					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239140912	239140912	+	RNA	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:239140912G>T	ENST00000456601.1	+	0	588																											TTATGGTGCGGCAAAGCCAAG	0.483000													8	74					1.12685e-05	1.20456e-05	1	1	0
LMOD1	25802	broad.mit.edu	37	1	201867505	201867505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:201867505G>A	ENST00000367288.4	-	3	2044	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	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)	600					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						TGGTCCTACTGAAGCAGTTTG	0.597000													10	23					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703661	103703661	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr13:103703661G>A	ENST00000245312.3	-	4	1303	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	236					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)					GGAGTAACCCGCCACAGGAAA	0.433000													4	71					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	54					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179227589	179227589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:179227589G>A	ENST00000337755.5	-	5	1545	c.659C>T	c.(658-660)aCg>aTg	p.T220M	MGAT4B_ENST00000292591.7_Missense_Mutation_p.T205M|MGAT4B_ENST00000521305.1_5'UTR	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	205					N-glycan processing|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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGATCTCCGTGGGGAACCT	0.642000													6	29					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755628	10755628	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:10755628A>G	ENST00000416569.2	-	3	1786	c.1760T>C	c.(1759-1761)aTt>aCt	p.I587T	XKR6_ENST00000304437.2_Missense_Mutation_p.I308T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	587						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)		TGGCATGTCAATCTTAATGAG	0.532000													8	69					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46616381	46616381	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr13:46616381C>G	ENST00000242848.4	-	4	605	c.257G>C	c.(256-258)aGa>aCa	p.R86T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R86T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	86							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CATTCTTTCTCTAAGATCCCC	0.388000													24	67					0	0	1	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748428	20748428	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:20748428G>C	ENST00000381337.2	-	4	1180	c.836C>G	c.(835-837)tCa>tGa	p.S279*	THUMPD1_ENST00000431224.2_Nonsense_Mutation_p.S365*|THUMPD1_ENST00000396083.2_Nonsense_Mutation_p.S279*	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	279										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TCCCTGCTTTGAGTTAAGCTG	0.433000													11	115					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225700654	225700654	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:225700654G>C	ENST00000366844.3	-	8	1734	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R	ENAH_ENST00000284563.6_Missense_Mutation_p.T675R|ENAH_ENST00000366843.2_Missense_Mutation_p.T428R	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)		EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GCCTGTATCTGTTTTAGATGA	0.443000													55	74					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33989371	33989371	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:33989371G>T	ENST00000335606.6	-	5	1064	c.976C>A	c.(976-978)Cgc>Agc	p.R326S	AMACR_ENST00000382085.3_Missense_Mutation_p.R326S|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.R311S|RP11-1084J3.4_ENST00000382079.3_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	326					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GGTGCAGGGCGGGGGCTCACG	0.498000													22	92					2.98393e-07	3.23757e-07	1	1	0
FAM120B	84498	broad.mit.edu	37	6	170628021	170628021	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:170628021A>G	ENST00000476287.1	+	2	1651	c.1543A>G	c.(1543-1545)Ata>Gta	p.I515V	FAM120B_ENST00000537664.1_Missense_Mutation_p.I538V|FAM120B_ENST00000540480.1_Missense_Mutation_p.I527V|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	515					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TACAGATCCTATATCCAAGCA	0.393000													8	72					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62487579	62487579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:62487579C>T	ENST00000301785.5	-	10	1888	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E566K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	566					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAATCTTCCTCATTAGGGACA	0.473000													19	208					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045934	76045934	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr17:76045934G>T	ENST00000335749.4	+	3	1360	c.791G>T	c.(790-792)gGg>gTg	p.G264V	TNRC6C_ENST00000544502.1_Missense_Mutation_p.G264V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G264V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G264V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G264V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G264V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	264	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAATTCTGGGTTCAGTCAG	0.483000													15	100					2.61681e-11	2.88248e-11	1	1	0
ZNF415	55786	broad.mit.edu	37	19	53625951	53625951	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:53625951C>G	ENST00000601215.1	-	3	287	c.272G>C	c.(271-273)aGa>aCa	p.R91T	ZNF415_ENST00000500065.4_Intron|ZNF415_ENST00000597748.1_5'UTR|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000594011.1_5'UTR|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000243643.4_5'UTR|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000599261.1_Intron|ZNF415_ENST00000595193.1_5'UTR|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000595813.1_Intron|ZNF415_ENST00000600574.1_5'UTR|ZNF415_ENST00000597503.1_5'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTGCTCTCCTCTTCTGGGTTT	0.443000													23	87					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908581	24908581	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:24908581G>A	ENST00000396432.2	-	9	2729	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P535L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	747					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						TAAAGGCTGCGGTGTCTGGCG	0.473000													4	128					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134886649	134886649	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:134886649G>A	ENST00000607359.1	+	3	683	c.683G>A	c.(682-684)cGg>cAg	p.R228Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	279						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACGAGCCCCCGGGGCCAGGCC	0.716000													3	21					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51065114	51065114	+	Silent	SNP	C	C	T	rs74315270		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr22:51065114C>T	ENST00000547307.1	-	4	1158	c.753G>A	c.(751-753)ctG>ctA	p.L251L	ARSA_ENST00000395621.3_Silent_p.L253L|ARSA_ENST00000547805.1_Silent_p.L251L|ARSA_ENST00000356098.5_Silent_p.L253L|ARSA_ENST00000453344.2_Silent_p.L167L|ARSA_ENST00000216124.5_Silent_p.L253L|ARSA_ENST00000395619.3_Silent_p.L253L			P15289	ARSA_HUMAN	arylsulfatase A	251						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCAGCTCCATCAGGGAGTCCC	0.592000													10	76					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581150	178581150	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:178581150C>T	ENST00000251582.7	-	8	1383	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E428K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	428	Peptidase M12B.				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)		AGCCGCACCTCGTCGCCACAG	0.701000													4	11					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861864	67861864	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:67861864G>A	ENST00000388833.3	+	16	2322	c.1945G>A	c.(1945-1947)Gtg>Atg	p.V649M	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.V703M|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.V634M	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	649					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CATCAGGCGTGTGGGACCTCG	0.542000													89	157					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507399	17507399	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:17507399G>A	ENST00000229922.2	+	5	832		c.e5-1		CAP2_ENST00000489374.1_Intron|CAP2_ENST00000465994.1_Splice_Site|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Splice_Site	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)						activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.?(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACTGCTTACAGAATGACGTGG	0.468000													28	55					0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84791393	84791393	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:84791393G>A	ENST00000370673.3	+	3	361	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	SAMD13_ENST00000370669.1_Missense_Mutation_p.V43M|SAMD13_ENST00000370668.3_Missense_Mutation_p.V43M|SAMD13_ENST00000394834.3_Missense_Mutation_p.V43M|SAMD13_ENST00000370671.3_Missense_Mutation_p.V63M|SAMD13_ENST00000370670.2_Missense_Mutation_p.V43M	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	63	SAM.									lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TTTCCGAACCGTGGGATTTGA	0.478000													11	39					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226307	110226307	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:110226307G>A	ENST00000418703.2	-	12	2200	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y	TRPV4_ENST00000346520.2_Silent_p.Y642Y|TRPV4_ENST00000536838.1_Silent_p.Y668Y|TRPV4_ENST00000544971.1_Silent_p.Y595Y|TRPV4_ENST00000541794.1_Silent_p.Y655Y|TRPV4_ENST00000392719.2_Silent_p.Y655Y|TRPV4_ENST00000261740.2_Silent_p.Y702Y|TRPV4_ENST00000537083.1_Silent_p.Y642Y	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	702					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						TGAGGATGATGTAGGTCACCA	0.567000													33	150					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54059192	54059192	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:54059192T>C	ENST00000338662.5	-	5	1585	c.380A>G	c.(379-381)cAg>cGg	p.Q127R	ATP5G2_ENST00000602871.1_Missense_Mutation_p.Q111R|ATP5G2_ENST00000394349.3_Missense_Mutation_p.Q168R|ATP5G2_ENST00000549164.1_Missense_Mutation_p.Q111R|ATP5G2_ENST00000550241.1_Intron	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	111					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGAGAAGAGCTGTTGCTTCAG	0.478000													8	72					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88530520	88530520	+	Missense_Mutation	SNP	C	C	T	rs150296134	by1000genomes	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:88530520C>T	ENST00000552810.1	-	6	684	c.341G>A	c.(340-342)cGt>cAt	p.R114H	CEP290_ENST00000309041.7_Missense_Mutation_p.R114H	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	114					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						AATTTCATTACGTAAAAACCG	0.343000													6	43					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1649571	1649571	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:1649571G>A	ENST00000421627.2	+	12	3061	c.2927G>A	c.(2926-2928)tGa>tAa	p.*976*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	0					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)		ACCCGGCTCTGAGGGCGGAGG	0.697000													4	12					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509763	24509763	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:24509763G>C	ENST00000264463.4	-	7	1675	c.1168C>G	c.(1168-1170)Ctg>Gtg	p.L390V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	390	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACTTCAAACAGATAGGAGGAC	0.403000										HNSCC(23;0.051)			18	57					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21148904	21148904	+	Nonsense_Mutation	SNP	G	G	A	rs144973225		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr18:21148904G>A	ENST00000269228.5	-	4	900	c.346C>T	c.(346-348)Cga>Tga	p.R116*	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	116					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGACTCTGTCGAGGGCTACAT	0.368000													11	39					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472347	23472347	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr20:23472347C>A	ENST00000246012.1	+	2	400	c.43C>A	c.(43-45)Ccc>Acc	p.P15T		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	15						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)					CCTCACCATTCCCCTGGCCCT	0.572000													11	158					1.08611e-07	1.18435e-07	1	1	0
SH3BP5	9467	broad.mit.edu	37	3	15297718	15297718	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr3:15297718T>G	ENST00000383791.3	-	9	1463	c.1243A>C	c.(1243-1245)Aag>Cag	p.K415Q	SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000426925.1_Missense_Mutation_p.K258Q|SH3BP5_ENST00000408919.3_Missense_Mutation_p.K258Q|SH3BP5_ENST00000253688.5_Missense_Mutation_p.K258Q	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	415	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ctttggctcttactgctgcca	0.537000													9	84					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545740	234545740	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:234545740C>T	ENST00000344644.5	+	1	641	c.572C>T	c.(571-573)cCc>cTc	p.P191L	UGT1A10_ENST00000373445.1_Missense_Mutation_p.P191L|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		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;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCTATGTCCCCAATGATCTC	0.463000													15	167					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145718758	145718758	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:145718758C>T	ENST00000230732.4	+	1	172	c.83C>T	c.(82-84)tCc>tTc	p.S28F	RBM27_ENST00000506502.1_Silent_p.L1013L|CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	28					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCTGGCTCCGAGGCCATG	0.562000													13	127					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137330273	137330273	+	Missense_Mutation	SNP	C	C	T	rs148415050		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:137330273C>T	ENST00000424189.2	-	6	978	c.749G>A	c.(748-750)cGt>cAt	p.R250H	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.R250H|DGKI_ENST00000446122.1_Missense_Mutation_p.R250H			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	250					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAGTGATGACGTACAAAATT	0.483000													8	60					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753433	145753433	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr8:145753433C>T	ENST00000524821.1	-	2	395	c.180G>A	c.(178-180)atG>atA	p.M60I	C8orf82_ENST00000313465.5_Missense_Mutation_p.M60I			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	60										endometrium(1)|urinary_tract(1)	2						TGAAATTCTTCATTTTGGAAT	0.582000													14	102					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009631	58009631	+	Silent	SNP	G	G	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:58009631G>T	ENST00000286494.4	+	13	1711	c.1251G>T	c.(1249-1251)ctG>ctT	p.L417L	ARHGEF25_ENST00000333972.7_Silent_p.L456L|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	417	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGAGCTGCCTGGGACTGGAGG	0.622000													23	88					4.54149e-19	5.02807e-19	1	1	0
ZSCAN31	64288	broad.mit.edu	37	6	28297176	28297176	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:28297176G>A	ENST00000414429.1	-	6	1188	c.285C>T	c.(283-285)ctC>ctT	p.L95L	ZSCAN31_ENST00000344279.6_Silent_p.L95L|ZSCAN31_ENST00000396838.2_Silent_p.L95L|ZSCAN31_ENST00000439158.1_Silent_p.L95L|ZSCAN31_ENST00000446474.1_Intron					zinc finger and SCAN domain containing 31																		CCCAGGCCTGGAGCTCCTCAG	0.557000													20	342					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81336624	81336624	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr7:81336624C>A	ENST00000222390.5	-	14	1824	c.1598G>T	c.(1597-1599)cGa>cTa	p.R533L	HGF_ENST00000457544.2_Missense_Mutation_p.R528L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	533	Peptidase S1.				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						GAAACACTGTCGTGCAGTAAG	0.348000													7	20					0.000274275	0.000287525	1	1	0
AP4B1	10717	broad.mit.edu	37	1	114440495	114440495	+	Silent	SNP	C	C	T			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr1:114440495C>T	ENST00000369569.1	-	7	1549	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.L255L|AP4B1_ENST00000256658.4_Silent_p.L423L|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	423					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		CACAGCCGGGCAGGGCCTGAC	0.493000													9	91					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115048391	115048391	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr13:115048391G>C	ENST00000375299.3	+	3	450	c.394G>C	c.(394-396)Gat>Cat	p.D132H	UPF3A_ENST00000351487.5_Missense_Mutation_p.D132H	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	132	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		AGATCGTTTTGATGGATATAT	0.313000													7	22					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41280098	41280098	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:41280098C>G	ENST00000361937.3	-	30	4069	c.3645G>C	c.(3643-3645)caG>caC	p.Q1215H	INO80_ENST00000401393.3_Missense_Mutation_p.Q1215H|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1215	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTGCTTTGTCTGCCCTAAGC	0.488000													48	122					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855322	79855322	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr5:79855322C>G	ENST00000338682.3	-	5	1189	c.517G>C	c.(517-519)Gat>Cat	p.D173H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	173						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCATCTATATCCACAGGAGGC	0.443000													6	170					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714839	52714839	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:52714839G>A	ENST00000293670.3	-	1	343	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	94	Head.				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)		GTTGAGGGGCGTGAGGAGGCT	0.652000													11	176					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35793580	35793580	+	Silent	SNP	G	G	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:35793580G>A	ENST00000361922.4	+	7	1350	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	MAG_ENST00000537831.2_Silent_p.Q375Q|MAG_ENST00000392213.3_Silent_p.Q400Q	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	400	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTATGGCCAGAGGGCCACCG	0.617000													12	59					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153248182	153248182	+	Silent	SNP	C	C	A			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:153248182C>A	ENST00000369982.4	+	2	1416	c.669C>A	c.(667-669)ctC>ctA	p.L223L		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	223						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTGCCTCACAGGCCACT	0.547000													8	97					0.000157383	0.000166596	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112578825	112578825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:112578825delT	ENST00000341068.3	-	26	3969	c.3197delA	c.(3196-3198)aagfs	p.K1066fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1066					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTGTTTTCCTTTTCCTCGAT	0.438													2	4	---	---	---	---					
UGT1A1	54658	broad.mit.edu	37	2	234526616	234526616	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr2:234526616delG	ENST00000373450.4	+	1	326	c.263delG	c.(262-264)cggfs	p.R88fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GATCTGGACCGGGAATTCATG	0.413													9	179	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652031	36652032	+	In_Frame_Ins	INS	-	-	TAA			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr6:36652031_36652032insTAA	ENST00000405375.1	+	2	388_389	c.153_154insTAA	c.(154-156)gac>TAAgac	p.51_52ins*	CDKN1A_ENST00000244741.5_In_Frame_Ins_p.51_52ins*|CDKN1A_ENST00000448526.2_In_Frame_Ins_p.85_86ins*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_In_Frame_Ins_p.51_52ins*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	51					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GATGGAACTTCGACTTTGTCAC	0.678													24	42	---	---	---	---					
GPR123	84435	broad.mit.edu	37	10	134895289	134895289	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr10:134895289delG	ENST00000607359.1	+	5	932	c.932delG	c.(931-933)tggfs	p.W311fs				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTGGGCTCCTGGAGGTCGTCC	0.667													2	4	---	---	---	---					
CTR9	9646	broad.mit.edu	37	11	10785051	10785053	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:10785051_10785053delGCT	ENST00000361367.2	+	8	1349_1351	c.923_925delGCT	c.(922-927)agctgc>agc	p.C309del		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	309					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAGCAGAGAGCTGCTATCAGCT	0.360													14	20	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													3	5	---	---	---	---					
SSH1	54434	broad.mit.edu	37	12	109217075	109217075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:109217075delG	ENST00000326495.5	-	3	266	c.173delC	c.(172-174)cctfs	p.P58fs	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Frame_Shift_Del_p.P69fs|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000551165.1_Frame_Shift_Del_p.P58fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	58					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGCCTTGAGGGCTGCTTCC	0.507													2	4	---	---	---	---					
LHX5	64211	broad.mit.edu	37	12	113901333	113901333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr12:113901333delT	ENST00000261731.3	-	5	1444	c.871delA	c.(871-873)agcfs	p.S291fs		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	291						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TCGTAGTTGCTTCCCGGCGCG	0.716													2	4	---	---	---	---					
OR4K5	79317	broad.mit.edu	37	14	20389003	20389003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr14:20389003delA	ENST00000315915.4	+	1	263	c.238delA	c.(238-240)aaafs	p.K80fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	80					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)		TGCTACCCCTAAAATGATTGC	0.438													22	349	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													3	4	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													2	4	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50902266	50902268	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chr19:50902266_50902268delAGG	ENST00000440232.2	+	2	211_213	c.158_160delAGG	c.(157-162)caggag>cag	p.E57del	POLD1_ENST00000599857.1_In_Frame_Del_p.E57del|POLD1_ENST00000595904.1_In_Frame_Del_p.E57del	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	57					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCAGGAGCAGGAGGAGGAGGA	0.606								DNA polymerases (catalytic subunits)					2	4	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A5C1-01A-11D-A289-08	TCGA-FD-A5C1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db7c536f-6d1f-43c6-a41a-8060017161fe	ccb7d35d-5615-43c5-b9fd-2239d1a6e45f	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					TTCCTTGCCGTGGGGGGGGCCC	0.683													7	152	---	---	---	---