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
SPARC	6678	broad.mit.edu	37	5	151043649	151043649	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:151043649C>G	ENST00000231061.4	-	9	1195	c.882G>C	c.(880-882)caG>caC	p.Q294H		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	294	EF-hand.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GACACTCACTCTGCTTGATGC	0.572000													42	26					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40278786	40278786	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:40278786G>C	ENST00000393860.3	-	6	838	c.522C>G	c.(520-522)atC>atG	p.I174M	CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000346213.4_Missense_Mutation_p.I174M|RAB5C_ENST00000547517.1_Missense_Mutation_p.I207M	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	174					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TTGCCATGAAGATTTCGTTCA	0.527000													21	91					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374560	23374560	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:23374560G>T	ENST00000359890.3	-	7	753	c.558C>A	c.(556-558)ttC>ttA	p.F186L	RBM23_ENST00000399922.2_Missense_Mutation_p.F170L|RBM23_ENST00000346528.5_Missense_Mutation_p.F152L|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_Missense_Mutation_p.F16L	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	186	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CTACAGCAGAGAAAAAGTCCT	0.488000													50	3					1.89013e-27	2.12535e-27	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32843954	32843954	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:32843954C>G	ENST00000311921.4	+	2	410	c.218C>G	c.(217-219)tCa>tGa	p.S73*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.S73*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.S73*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CGCCCACGTTCAAGTGCTGCA	0.408000													24	16					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635353	34635353	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:34635353G>T	ENST00000342136.4	+	9	1422	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Nonsense_Mutation_p.E366*|IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	366					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGAGTCCGAGGAGGAGCCTGA	0.582000													14	69					9.31168e-06	9.66401e-06	1	1	0
CALD1	800	broad.mit.edu	37	7	134618796	134618796	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:134618796G>C	ENST00000361675.2	+	5	1505	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	426					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AGCACAAGAAGATAAACTTCA	0.368000													15	30					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108626557	108626557	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:108626557C>T	ENST00000332082.4	+	8	1847	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	WSCD2_ENST00000261400.3_Silent_p.L343L|WSCD2_ENST00000549903.1_Silent_p.L343L|WSCD2_ENST00000547525.1_Silent_p.L343L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	343						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCAAGCAGCTCATTGCTTTGG	0.572000													12	26					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150565	117150565	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:117150565G>T	ENST00000369486.3	-	5	1986	c.1221C>A	c.(1219-1221)ctC>ctA	p.L407L	IGSF3_ENST00000369483.1_Splice_Site_p.L407L|IGSF3_ENST00000318837.6_Splice_Site_p.L407L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	407	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCTACTTACTGAGGGGGAGGA	0.527000													12	55					1.61879e-10	1.7535e-10	1	1	0
EPN1	29924	broad.mit.edu	37	19	56206596	56206596	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:56206596C>G	ENST00000411543.2	+	11	2410	c.1863C>G	c.(1861-1863)ctC>ctG	p.L621L	EPN1_ENST00000085079.7_Silent_p.L509L|EPN1_ENST00000270460.6_Silent_p.L535L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	535					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AGCTCCGTCTCAGTCCTGTGC	0.716000													4	1					0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231655632	231655632	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:231655632C>G	ENST00000258418.5	+	3	589	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	CAB39_ENST00000410084.3_Missense_Mutation_p.L54V|CAB39_ENST00000484398.1_3'UTR|CAB39_ENST00000409788.3_Missense_Mutation_p.L54V	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	54					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GAAAGAAATTCTGTATGGCAC	0.388000													55	0					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705344	50705344	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:50705344G>T	ENST00000442544.2	+	9	2047	c.1431G>T	c.(1429-1431)ttG>ttT	p.L477F	DCC_ENST00000581580.1_Missense_Mutation_p.L132F|DCC_ENST00000412726.1_Missense_Mutation_p.L325F	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	477	Fibronectin type-III 1.				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)		AACGAGCATTGAATACAACAC	0.453000													7	33					1.26484e-09	1.36241e-09	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42877872	42877872	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:42877872C>G	ENST00000025301.2	+	8	5165	c.4990C>G	c.(4990-4992)Cga>Gga	p.R1664G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1664					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAAAGCTGAGCGAGAGCTGAG	0.498000													10	24					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62462175	62462175	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:62462175C>T	ENST00000433053.1	-	5	1051	c.495G>A	c.(493-495)atG>atA	p.M165I	BSCL2_ENST00000405837.1_Missense_Mutation_p.M165I|BSCL2_ENST00000421906.1_Missense_Mutation_p.M101I|BSCL2_ENST00000407022.3_Missense_Mutation_p.M101I|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.M165I|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.M101I|BSCL2_ENST00000278893.7_Missense_Mutation_p.M101I			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	101					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GCTGTCCATACATCAGCACCT	0.473000											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	35					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155145433	155145433	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:155145433G>A	ENST00000367178.3	+	17	2568	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	SCAF8_ENST00000367186.4_Silent_p.P730P|SCAF8_ENST00000417268.1_Silent_p.P664P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	664	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGTCGATGCCGGTTCCTCCTC	0.453000													35	83					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36527675	36527675	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:36527675C>T	ENST00000273183.3	+	5	921	c.621C>T	c.(619-621)acC>acT	p.T207T	STAC_ENST00000457375.2_Silent_p.T146T|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	207					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCTTCGGCACCTCCCTGGCCC	0.552000													12	92					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:26031895G>C	ENST00000244661.2	-	1	393	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTCTCCGCGAATGCGGCGA	0.478000													4	37					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650351	70650351	+	Silent	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:70650351A>C	ENST00000260126.4	-	5	2053	c.1347T>G	c.(1345-1347)acT>acG	p.T449T	SLCO5A1_ENST00000530307.1_Intron|SLCO5A1_ENST00000524945.1_Silent_p.T449T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAATGAAAGCAGTTACAATGG	0.468000													10	30					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114940585	114940585	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:114940585C>G	ENST00000358465.2	-	19	3231	c.3148G>C	c.(3148-3150)Gac>Cac	p.D1050H	TRIM33_ENST00000450349.2_Missense_Mutation_p.D682H|TRIM33_ENST00000369543.2_Intron	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1050					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGTGTGTCTGCATAAACT	0.333000			T	RET	papillary thyroid								33	196					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241973	7241973	+	Silent	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:7241973C>A	ENST00000542285.1	-	5	830	c.681G>T	c.(679-681)cgG>cgT	p.R227R				P00736	C1R_HUMAN	complement component 1, r subcomponent	228	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGTGAGGCCCCGCTCCACCC	0.597000													5	12					0.014758	0.014933	1	1	0
OPLAH	26873	broad.mit.edu	37	8	145109730	145109730	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:145109730C>G	ENST00000426825.1	-	18	2577	c.2496G>C	c.(2494-2496)ctG>ctC	p.L832L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	832							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGATAACAGTCAGGTCTGGCA	0.647000													12	25					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220970027	220970027	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:220970027C>T	ENST00000366910.5	+	3	678	c.492C>T	c.(490-492)gcC>gcT	p.A164A	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	164							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GTGGCGAGGCCACCGCCCAGT	0.577000													5	27					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37371452	37371452	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:37371452C>G	ENST00000333461.5	-	5	987	c.618G>C	c.(616-618)gaG>gaC	p.E206D		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	206					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AGCGCAGGGTCTCGTAGACAG	0.597000													12	27					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23598904	23598904	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:23598904C>T	ENST00000316902.7	-	9	1943	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Silent_p.Q182Q|SLC7A8_ENST00000529705.2_Silent_p.Q301Q|SLC7A8_ENST00000453702.1_Silent_p.Q203Q	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	406					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GAAGGACTATCTGTCCAGCAA	0.542000													95	5					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743827	102743827	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:102743827G>C	ENST00000210633.3	+	14	2549	c.2471G>C	c.(2470-2472)cGc>cCc	p.R824P	MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R819P|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.A157G|MRPL43_ENST00000370242.4_Missense_Mutation_p.A157G|SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	819					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GAACTCAGCCGCATCCTGGAA	0.572000													8	52					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122864377	122864377	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:122864377C>T	ENST00000316218.7	+	12	1014	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	307	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGGGTGTGGCCACTGTAAGAA	0.552000													22	20					0	0	1	0	0
LCA10	100996465	broad.mit.edu	37	X	153154028	153154028	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:153154028C>T	ENST00000357566.1	+	7	975	c.469C>T	c.(469-471)Cca>Tca	p.P157S																								GACGCAGAAGCCACAGACGAC	0.577000													6	0					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784494	9784494	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:9784494G>A	ENST00000304374.2	+	1	1237	c.841G>A	c.(841-843)Gac>Aac	p.D281N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	281					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D281N(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGCGCGCCCGACACCAGCCT	0.632000													7	11					0	0	1	0	0
MAPRE1	22919	broad.mit.edu	37	20	31421603	31421603	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:31421603G>C	ENST00000375571.5	+	3	341	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	68	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGCTAAGCTAGAACACGAGTA	0.398000													14	50					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482164	41482164	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:41482164C>T	ENST00000314992.5	-	9	1043	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	EXD1_ENST00000458580.2_Missense_Mutation_p.G343R	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	285					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTGCAGACCCTTCGCGATAC	0.537000													15	48					0	0	1	0	0
CTSH	1512	broad.mit.edu	37	15	79220067	79220067	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:79220067G>A	ENST00000220166.5	-	9	796	c.687C>T	c.(685-687)gcC>gcT	p.A229A	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	229					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTGTGATGTTGGCTACATCCT	0.532000													23	14					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70902582	70902582	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:70902582A>G	ENST00000393567.2	-	66	11351	c.11201T>C	c.(11200-11202)aTg>aCg	p.M3734T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3734										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGCTGAAACATAATCCTGGA	0.532000													14	27					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38297840	38297840	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:38297840G>A	ENST00000264645.7	+	3	503	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	93					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTCGGATTATGAAAGTGCAGA	0.368000													20	111					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124740055	124740055	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:124740055C>G	ENST00000405485.1	+	1	126	c.60C>G	c.(58-60)ctC>ctG	p.L20L	PSTK_ENST00000368887.3_Silent_p.L20L			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	20							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AACGAGGCCTCTGCGTCCTCT	0.687000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	6					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847788	40847788	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:40847788G>T	ENST00000264638.4	+	19	3459	c.3242G>T	c.(3241-3243)gGa>gTa	p.G1081V	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1081					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AACGTTACGGGAGAGGAGGTC	0.617000													5	27					0.000602214	0.000619144	1	1	0
FLVCR1	28982	broad.mit.edu	37	1	213046052	213046052	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:213046052C>G	ENST00000366971.4	+	3	1114	c.916C>G	c.(916-918)Cag>Gag	p.Q306E		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	306					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TCCACCAAGTCAGGCTCAAGC	0.333000													5	43					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034702	90034702	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:90034702C>G	ENST00000317005.2	+	1	735	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	193	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACATTAACTCTTGAAACTGA	0.378000													9	39					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198219	101198219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:101198219G>T	ENST00000294728.2	+	7	1872	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	VCAM1_ENST00000370119.4_Nonsense_Mutation_p.E529*|VCAM1_ENST00000370115.1_Nonsense_Mutation_p.E392*|VCAM1_ENST00000347652.2_Nonsense_Mutation_p.E499*	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	591	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAGCAGAAAGGAAGTGGAATT	0.353000													40	45					1.7489e-18	1.94379e-18	1	1	0
DPAGT1	1798	broad.mit.edu	37	11	118967723	118967723	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:118967723G>C	ENST00000409993.2	-	11	2763	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	DPAGT1_ENST00000432443.2_Silent_p.L323L|DPAGT1_ENST00000354202.4_Silent_p.L404L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	404					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CATCATAGAAGAGTCGAACGA	0.507000													13	12					0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705835	50705835	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:50705835G>C	ENST00000330651.6	-	4	482	c.382C>G	c.(382-384)Caa>Gaa	p.Q128E	MAPK11_ENST00000449719.2_Missense_Mutation_p.Q20E|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	128	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAGGAATTGAACGTGCTCG	0.701000													4	9					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9514926	9514926	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:9514926G>C	ENST00000281419.3	+	17	1939	c.1599G>C	c.(1597-1599)agG>agC	p.R533S	ASAP2_ENST00000315273.4_Missense_Mutation_p.R533S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	533	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACATCGAGAGGAGATACGCAA	0.498000													7	58					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114282	56114282	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:56114282G>T	ENST00000279783.2	+	1	862	c.768G>T	c.(766-768)atG>atT	p.M256I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGGTGATCATGTTCTATGGGA	0.408000										HNSCC(65;0.19)			34	9					9.17885e-22	1.02313e-21	1	1	0
CENPE	1062	broad.mit.edu	37	4	104102526	104102526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:104102526C>A	ENST00000265148.3	-	12	1140	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*	CENPE_ENST00000509120.1_5'UTR|CENPE_ENST00000380026.3_Nonsense_Mutation_p.E351*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	351					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCATTATTTCTTTTCTATAC	0.308000													8	33					0.000157383	0.000162679	1	1	0
FLAD1	80308	broad.mit.edu	37	1	154956408	154956408	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:154956408G>C	ENST00000368433.1	+	1	581	c.238G>C	c.(238-240)Ggg>Cgg	p.G80R	FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000292180.3_Missense_Mutation_p.G80R|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000315144.10_5'UTR|FLAD1_ENST00000487371.1_3'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	80					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCCCTATTTGGGGGTCTGGG	0.657000													6	26					0	0	1	0	0
TFF2	7032	broad.mit.edu	37	21	43767690	43767690	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:43767690G>C	ENST00000291526.4	-	3	451	c.281C>G	c.(280-282)cCg>cGg	p.P94R	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	94	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						GCTGATGCCCGGGTAGCCACA	0.587000													4	38					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832706	61832706	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:61832706C>G	ENST00000280772.2	-	37	8124	c.7933G>C	c.(7933-7935)Gag>Cag	p.E2645Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_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			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						TTAACCCACTCATCATTGGAT	0.527000													29	29					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634596	206634596	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:206634596G>T	ENST00000414007.1	+	19	2627	c.2627G>T	c.(2626-2628)gGg>gTg	p.G876V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1016	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGTACTGCTGGGGACATCGCC	0.662000													6	15					0.00116845	0.00119489	1	1	0
LMOD1	25802	broad.mit.edu	37	1	201869728	201869728	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:201869728C>G	ENST00000367288.4	-	2	659	c.413G>C	c.(412-414)aGa>aCa	p.R138T		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	138					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						AGCTTCATCTCTGTCTCTAGA	0.562000													22	75					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931522	144931522	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:144931522G>C	ENST00000529945.1	-	1	626	c.187C>G	c.(187-189)Cga>Gga	p.R63G	PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R63G|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGTCGAATCGATAGATTCGA	0.512000			T	PDGFRB	MPD								26	55					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52227592	52227592	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:52227592C>T	ENST00000371710.3	+	11	963	c.781C>T	c.(781-783)Cct>Tct	p.P261S	OSBPL9_ENST00000435686.2_Missense_Mutation_p.P78S|OSBPL9_ENST00000447887.1_Missense_Mutation_p.P253S|OSBPL9_ENST00000486942.1_Missense_Mutation_p.P65S|OSBPL9_ENST00000371714.1_Missense_Mutation_p.P230S|OSBPL9_ENST00000530544.1_Missense_Mutation_p.P162S|OSBPL9_ENST00000531828.1_Missense_Mutation_p.P78S|OSBPL9_ENST00000453295.1_Missense_Mutation_p.P226S|OSBPL9_ENST00000361556.5_Missense_Mutation_p.P133S|OSBPL9_ENST00000462759.1_Missense_Mutation_p.P65S|OSBPL9_ENST00000337809.4_Missense_Mutation_p.P248S|OSBPL9_ENST00000428468.1_Missense_Mutation_p.P243S	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	243					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ACCAGTTGGACCTGTGTTGGC	0.403000													28	98					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100214168	100214168	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:100214168C>G	ENST00000414213.1	-	3	758	c.157G>C	c.(157-159)Gtg>Ctg	p.V53L	FRRS1_ENST00000287474.5_Missense_Mutation_p.V53L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	53	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		ATCTGACTCACGTAAATGTCA	0.403000													14	71					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57600606	57600606	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:57600606C>G	ENST00000340339.4	+	7	1165	c.642C>G	c.(640-642)ccC>ccG	p.P214P	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.P214P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	214	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CAGAGCAGCCCTCCCACTCTC	0.612000													11	17					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9052473	9052473	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:9052473C>T	ENST00000457346.2	-	18	2248		c.e18-1		SCUBE2_ENST00000450649.2_Splice_Site|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Splice_Site|SCUBE2_ENST00000520467.1_Splice_Site			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2							extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGACACAGACCTGGAAGGACC	0.547000													3	8					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132213934	132213934	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:132213934A>G	ENST00000260818.6	+	35	4192	c.3944A>G	c.(3943-3945)cAt>cGt	p.H1315R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1315	J.						heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTAACAGGCATGATGAGAGC	0.338000													32	16					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133794736	133794736	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:133794736T>A	ENST00000321016.8	-	15	2328	c.2098A>T	c.(2098-2100)Atc>Ttc	p.I700F	IGSF9B_ENST00000533871.2_Missense_Mutation_p.I700F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	700	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGCCGGCGATGTTGCTGGGC	0.572000													21	76					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36662037	36662037	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:36662037C>T	ENST00000319136.4	+	7	1470	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	APOL1_ENST00000426053.1_Silent_p.L367L|APOL1_ENST00000397279.4_Silent_p.L385L|APOL1_ENST00000347595.7_Silent_p.L264L|APOL1_ENST00000422706.1_Silent_p.L385L|APOL1_ENST00000397278.3_Silent_p.L385L	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	385					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TAAACATTCTCAACAATAATT	0.517000													12	58					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171079942	171079942	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:171079942A>T	ENST00000367755.4	+	6	742	c.631A>T	c.(631-633)Atg>Ttg	p.M211L	FMO3_ENST00000392085.2_Missense_Mutation_p.M211L|FMO3_ENST00000542847.1_Missense_Mutation_p.M191L|FMO3_ENST00000538429.1_Missense_Mutation_p.M148L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	211					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)					TTTTAAGGTCATGATCAGTTC	0.468000													82	79					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120518740	120518740	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:120518740G>C	ENST00000397558.2	+	7	1358	c.1358G>C	c.(1357-1359)cGa>cCa	p.R453P	CCDC64_ENST00000446727.2_Missense_Mutation_p.R124P|CCDC64_ENST00000257583.4_Missense_Mutation_p.R150P	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	453					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	p.R453Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAGAGACCGACTCAGAGTC	0.527000													8	37					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72400883	72400883	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:72400883C>G	ENST00000357731.5	-	2	527	c.288G>C	c.(286-288)ttG>ttC	p.L96F	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.L94F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCCTTTTATTCAATGTTGAAA	0.448000													11	44					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136662855	136662855	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:136662855C>T	ENST00000371851.1	-	9	1223	c.898G>A	c.(898-900)Gag>Aag	p.E300K	VAV2_ENST00000371850.3_Missense_Mutation_p.E305K|VAV2_ENST00000406606.3_Missense_Mutation_p.E300K			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	305	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTGAAGTCCTCCCGGCTGGCC	0.617000													4	7					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83858483	83858483	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:83858483C>T	ENST00000349129.2	+	27	5998	c.5738C>T	c.(5737-5739)cCa>cTa	p.P1913L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.P1904L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1913					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCAGAATTCCAGTGCCCAAT	0.368000													9	30					0	0	1	0	0
WEE1	7465	broad.mit.edu	37	11	9597639	9597639	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:9597639G>C	ENST00000299613.6	+	2	894	c.139G>C	c.(139-141)Gat>Cat	p.D47H	WEE1_ENST00000450114.2_Splice_Site_p.D261H	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	261					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GTATTGGAATGAGTAAGTCGT	0.363000													18	18					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376238	117376238	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:117376238C>G	ENST00000321322.6	-	9	2174	c.2173G>C	c.(2173-2175)Ggc>Cgc	p.G725R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G455R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	665	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTATAGTTGCCGTTGTGCTTG	0.617000													6	32					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232596693	232596693	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:232596693C>T	ENST00000366630.1	-	9	3393	c.3035G>A	c.(3034-3036)cGt>cAt	p.R1012H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1012H|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R86H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1012	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CACAGAAGTACGGAGCAGGTC	0.592000													5	23					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17586161	17586161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:17586161G>T	ENST00000375460.3	+	2	221	c.181G>T	c.(181-183)Gag>Tag	p.E61*		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	61					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGGGGCCGGGAGCGTGCAGA	0.592000													11	23					3.07112e-06	3.22216e-06	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139409131	139409131	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:139409131C>A	ENST00000277541.6	-	13	2113	c.2038G>T	c.(2038-2040)Gat>Tat	p.D680Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	680	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACACTCATCGATGTTGATG	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	12					0.004672	0.00474616	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23526739	23526739	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:23526739G>C	ENST00000296682.3	+	11	1724	c.1542G>C	c.(1540-1542)gtG>gtC	p.V514V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	514					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.V514V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATTATTTGTGGGGGTAGGAA	0.418000										HNSCC(3;0.000094)			9	42					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76421112	76421112	+	Silent	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:76421112A>G	ENST00000370014.3	+	21	3508	c.2889A>G	c.(2887-2889)ttA>ttG	p.L963L	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.L956L|SENP6_ENST00000447266.2_Silent_p.L963L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	963	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGGCATTTAAAGCCTACTA	0.338000													15	9					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33286937	33286937	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:33286937G>A	ENST00000374542.5	-	7	2204	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	DAXX_ENST00000266000.6_Missense_Mutation_p.P667L|DAXX_ENST00000414083.2_Missense_Mutation_p.P592L	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	667	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGGTGGGCTGGGCAGGGTACA	0.537000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								19	56					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547568	165547568	+	Silent	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:165547568A>C	ENST00000264381.3	-	2	1420	c.1254T>G	c.(1252-1254)ggT>ggG	p.G418G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	418			G -> V (in BChE deficiency; allele fluoride-2; dbSNP:rs28933390).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAACAACATCACCCAAGGCCT	0.418000													5	51					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148786	170148786	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:170148786C>A	ENST00000434108.1	+	4	281	c.281C>A	c.(280-282)cCc>cAc	p.P94H	KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000411494.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	96	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGTTCTCCCTGTGTGGAA	0.517000													20	8					1.2644e-06	1.33388e-06	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47614730	47614730	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:47614730G>C	ENST00000371917.4	+	24	3222	c.3222G>C	c.(3220-3222)agG>agC	p.R1074S	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1074					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATCTTCCTAGGATTTTTACTG	0.463000													8	29					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116418	28116418	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:28116418C>T	ENST00000535992.1	-	3	733	c.387G>A	c.(385-387)aaG>aaA	p.K129K	RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_Silent_p.K129K|PTHLH_ENST00000545234.1_Silent_p.K129K|PTHLH_ENST00000201015.4_Silent_p.K129K|PTHLH_ENST00000354417.3_Silent_p.K129K|PTHLH_ENST00000538310.1_Silent_p.K129K|PTHLH_ENST00000395872.1_Silent_p.K129K|PTHLH_ENST00000395868.3_Silent_p.K129K			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	129					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTTCCCGGGCTTGCCTTTCT	0.527000													31	42					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281672	103281672	+	Silent	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:103281672C>A	ENST00000233969.2	+	3	1009	c.867C>A	c.(865-867)ggC>ggA	p.G289G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	289						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGATTGGCATCTTCTTGG	0.438000													29	93					4.87955e-14	5.35357e-14	1	1	0
MROH9	80133	broad.mit.edu	37	1	170959073	170959073	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:170959073C>G	ENST00000367759.4	+	11	1111	c.957C>G	c.(955-957)atC>atG	p.I319M	MROH9_ENST00000367758.3_Missense_Mutation_p.I319M	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGCAGGTTATCACTTTGTTGA	0.453000													64	84					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790631	57790631	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:57790631C>G	ENST00000396776.2	+	3	730	c.268C>G	c.(268-270)Cac>Gac	p.H90D	GAPT_ENST00000318469.2_Missense_Mutation_p.H90D	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	90					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AAATAACACACACGACAACTA	0.438000													6	33					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984609	158984609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:158984609C>T	ENST00000295809.7	+	2	394	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	IFI16_ENST00000340979.6_Nonsense_Mutation_p.Q47*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Q51*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Q47*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Q47*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Q47*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Q47*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	47	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGACAAAATTCAGATTGCTGA	0.343000													13	69					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8890306	8890306	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:8890306G>A	ENST00000256707.3	-	24	3531	c.3350C>T	c.(3349-3351)tCa>tTa	p.S1117L	KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1075L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1117L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1117L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1117					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGGCTGTGGTGACACCACTCC	0.557000													51	2					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6021918	6021918	+	Silent	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:6021918A>C	ENST00000378156.4	-	6	874	c.609T>G	c.(607-609)ccT>ccG	p.P203P	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	203					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGTTCTCAGGAAGAAGGT	0.552000													6	13					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121883152	121883152	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:121883152C>G	ENST00000377069.4	-	14	2342	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q	KDM2B_ENST00000542973.1_Missense_Mutation_p.E45Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E677Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	677					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGCCTTCCTCCTCTTCCACC	0.577000													6	40					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050733	72050733	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:72050733C>T	ENST00000378743.3	-	2	1305	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R316H|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R316H	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	316					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTTTCAAACGGTTCTTATC	0.348000													17	75					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57679910	57679910	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:57679910G>A	ENST00000451169.2	+	18	2049	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	DHX40_ENST00000251241.4_Missense_Mutation_p.E612K|DHX40_ENST00000425628.3_Missense_Mutation_p.E535K			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	612							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGAGACCTTTGAAGGCCCTAA	0.338000													26	78					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18507016	18507016	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:18507016G>A	ENST00000336714.3	+	8	1266		c.e8-1		SEC23B_ENST00000377465.1_Splice_Site|SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000262544.2_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CGCTATTTTAGGGCACTTTTC	0.453000													16	20					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953413	25953413	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:25953413C>G	ENST00000356865.6	-	11	2490	c.2379G>C	c.(2377-2379)cgG>cgC	p.R793R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	793					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGTTTTGCTCCGAATCTTTT	0.537000													21	33					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217030	50217030	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:50217030G>A	ENST00000216267.8	-	1	1422	c.936C>T	c.(934-936)atC>atT	p.I312I	BRD1_ENST00000404034.1_Silent_p.I312I|BRD1_ENST00000457780.2_Silent_p.I312I|BRD1_ENST00000404760.1_Silent_p.I312I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	312					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCACCCCATCGATGGGCTCGA	0.577000													13	38					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64954758	64954758	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:64954758G>T	ENST00000527323.1	+	6	1072	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W	CAPN1_ENST00000533820.1_Missense_Mutation_p.G278W|CAPN1_ENST00000524773.1_Missense_Mutation_p.G278W|CAPN1_ENST00000533129.1_Missense_Mutation_p.G278W|CAPN1_ENST00000279247.6_Missense_Mutation_p.G278W			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	278	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTCTGTGACCGGGGCCAAGCA	0.602000													3	8					1	1	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139629196	139629196	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:139629196G>C	ENST00000303045.6	-	54	4277	c.3831C>G	c.(3829-3831)ttC>ttG	p.F1277L	COL22A1_ENST00000435777.1_Missense_Mutation_p.F1257L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1277	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGTCCCTTGAAGCCCTAGA	0.592000										HNSCC(7;0.00092)			6	51					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100190852	100190852	+	Silent	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:100190852T>A	ENST00000355295.4	+	2	400	c.105T>A	c.(103-105)acT>acA	p.T35T	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	35	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GATCCTTGACTGGAGACTGGA	0.488000													8	13					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875193	51875193	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:51875193C>T	ENST00000221978.5	-	3	619		c.e3+1		NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Splice_Site	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence							integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGATAGTCACCTGTACAGAG	0.607000													31	27					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172928	51172928	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:51172928G>C	ENST00000440970.1	-	2	3345	c.2914C>G	c.(2914-2916)Ccc>Gcc	p.P972A	SALL1_ENST00000251020.4_Missense_Mutation_p.P1069A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1069					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTCTGATTGGGGCCAAGGTTG	0.507000													6	18					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:63010911T>C	ENST00000439174.2	-	4	843	c.598A>G	c.(598-600)Aga>Gga	p.R200G	GNA13_ENST00000541118.1_Missense_Mutation_p.R105G	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTGGGTCTTCTGGCAAGCAGA	0.353000													5	29					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667532	157667532	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:157667532C>A	ENST00000368184.3	-	5	767	c.476G>T	c.(475-477)aGc>aTc	p.S159I	FCRL3_ENST00000368186.5_Missense_Mutation_p.S159I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	159	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATGATATTTGCTATTATCCCT	0.333000													6	90					0.0215528	0.0217796	1	1	0
GINS4	84296	broad.mit.edu	37	8	41399415	41399415	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:41399415A>G	ENST00000523277.2	+	7	739	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	GINS4_ENST00000276533.3_Missense_Mutation_p.Q191R|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Missense_Mutation_p.Q191R|RP11-360L9.4_ENST00000523081.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	191	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			ACAGATGAGCAGAGGTGAGTG	0.498000													39	3					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165524	118165524	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:118165524A>G	ENST00000369448.3	+	2	281	c.34A>G	c.(34-36)Atg>Gtg	p.M12V		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	12										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CAGGGATTGCATGTCCTTCAG	0.532000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			5	33					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53553411	53553411	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:53553411G>A	ENST00000267085.4	-	16	1618	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	CSAD_ENST00000444623.1_Missense_Mutation_p.S435L|CSAD_ENST00000379846.1_Missense_Mutation_p.S288L|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.S435L|CSAD_ENST00000379843.3_Missense_Mutation_p.S288L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	435					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCCTACCTTTGACAGCCTTTC	0.562000											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35454346	35454346	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:35454346C>G	ENST00000338863.7	-	2	321	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	TEAD3_ENST00000402886.3_Silent_p.R14R	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	32					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CACACGCCCTCCGCATCGTTG	0.682000													12	27					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130380797	130380797	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:130380797C>T	ENST00000358511.6	+	34	6178	c.6147C>T	c.(6145-6147)caC>caT	p.H2049H	COL6A6_ENST00000453409.2_Silent_p.H2049H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2049	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCATGTGCACGAGTCAGTTA	0.443000													25	15					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23722243	23722243	+	Silent	SNP	G	G	A	rs34887159		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:23722243G>A	ENST00000256797.4	-	2	502	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	ERN2_ENST00000457008.2_Silent_p.L64L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	64					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCATCCCTCAGAGTCCACTTC	0.547000													11	29					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845527	248845527	+	Missense_Mutation	SNP	C	C	T	rs147758863	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:248845527C>T	ENST00000342623.3	-	1	102	c.79G>A	c.(79-81)Ggg>Agg	p.G27R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGAAACAGCCCGGCGTGCAGC	0.493000													20	0					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357781	58357781	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:58357781A>C	ENST00000249750.4	-	1	835	c.68T>G	c.(67-69)cTg>cGg	p.L23R	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.L23R|ALDH1A2_ENST00000537372.1_5'UTR|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	23					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAGGAGGTGCAGCGACGCCAT	0.652000													7	9					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58231969	58231969	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:58231969G>C	ENST00000317398.6	-	4	1580	c.1485C>G	c.(1483-1485)atC>atG	p.I495M	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.I397M	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCAGTGCCTGATGAGGTTGG	0.502000													26	110					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172540	47172540	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:47172540T>C	ENST00000447411.1	-	10	943	c.737A>G	c.(736-738)cAa>cGa	p.Q246R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.Q246R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	246					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCAGGGTATTTGGAATTTCTT	0.358000													25	21					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219555247	219555247	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:219555247C>G	ENST00000295709.3	+	14	2012	c.1733C>G	c.(1732-1734)tCt>tGt	p.S578C	STK36_ENST00000392105.3_Missense_Mutation_p.S578C|STK36_ENST00000392106.2_Missense_Mutation_p.S578C|STK36_ENST00000440309.1_Missense_Mutation_p.S578C	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	578					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCAGATGACTCTGAGCAGACT	0.522000													25	2					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924503	153924503	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:153924503C>G	ENST00000368633.1	-	10	1115	c.988G>C	c.(988-990)Gat>Cat	p.D330H	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	330					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGTGCATCATAGCCTGGG	0.602000													10	46					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151818672	151818672	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:151818672G>A	ENST00000434507.1	+	14	2174	c.1737G>A	c.(1735-1737)ctG>ctA	p.L579L	GALNT11_ENST00000430044.2_Silent_p.L579L|GALNT11_ENST00000320311.2_Silent_p.L579L|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Silent_p.L498L			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	579	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GACAGTGCCTGAGAGCAGTGG	0.488000													14	32					0	0	1	0	0
C9orf106	414318	broad.mit.edu	37	9	132084729	132084729	+	RNA	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:132084729C>G	ENST00000316786.1	+	0	690							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				GTTCCCAGTTCTGCCTGTCCA	0.562000													7	24					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416912	145416912	+	Silent	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:145416912T>C	ENST00000336751.5	+	4	1495	c.1257T>C	c.(1255-1257)ttT>ttC	p.F419F	HFE2_ENST00000497365.1_Silent_p.F193F|HFE2_ENST00000475797.1_Silent_p.F193F|HFE2_ENST00000357836.5_Silent_p.F306F	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	419					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGGCTCTTTGTTCTGTGGC	0.463000													22	65					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16760787	16760787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:16760787G>A	ENST00000502640.1	-	2	377	c.229C>T	c.(229-231)Cga>Tga	p.R77*	LDB2_ENST00000515064.1_Nonsense_Mutation_p.R77*|LDB2_ENST00000304523.5_Nonsense_Mutation_p.R77*|LDB2_ENST00000441778.2_Nonsense_Mutation_p.R77*			O43679	LDB2_HUMAN	LIM domain binding 2	77							LIM domain binding|transcription cofactor activity	p.R77*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTACTGTATCGCTTTGGTCCA	0.428000													20	2					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33700256	33700256	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:33700256C>G	ENST00000253188.4	-	10	1545	c.1399G>C	c.(1399-1401)Gtg>Ctg	p.V467L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTCCAGAACACTCCCAGAAAG	0.597000													14	42					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119288118	119288118	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:119288118C>T	ENST00000338891.7	-	15	3359		c.e15-1		FAM184A_ENST00000521531.1_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCTTCTAATCTGAAAACAAG	0.303000													23	19					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114489959	114489959	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:114489959C>A	ENST00000394779.3	-	9	1723	c.1479G>T	c.(1477-1479)aaG>aaT	p.K493N	C9orf84_ENST00000374287.3_Missense_Mutation_p.K532N|C9orf84_ENST00000394777.4_Missense_Mutation_p.K493N|C9orf84_ENST00000318737.4_Missense_Mutation_p.K532N	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	532										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGTGCAAGTCTTATATTTAT	0.328000													14	59					4.36969e-10	4.72e-10	1	1	0
PRAM1	84106	broad.mit.edu	37	19	8564610	8564610	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:8564610C>G	ENST00000423345.4	-	2	602	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.E28Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	28	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGCTGGGCTCCGGCTGAGAG	0.572000													5	17					0	0	1	0	0
HMGB1	3146	broad.mit.edu	37	13	31036814	31036814	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:31036814G>A	ENST00000405805.1	-	4	1272	c.332C>T	c.(331-333)cCa>cTa	p.P111L	HMGB1_ENST00000399494.1_Missense_Mutation_p.P111L|HMGB1_ENST00000326004.4_Missense_Mutation_p.P111L|HMGB1_ENST00000341423.5_Missense_Mutation_p.P111L|HMGB1_ENST00000399489.1_Missense_Mutation_p.P111L|HMGB1_ENST00000339872.4_Missense_Mutation_p.P111L			P09429	HMGB1_HUMAN	high mobility group box 1	111					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		TTTGATTTTTGGGCGATACTC	0.388000													6	58					0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1728491	1728491	+	Silent	SNP	C	C	T	rs151334741		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:1728491C>T	ENST00000331222.4	+	3	866	c.619C>T	c.(619-621)Cta>Tta	p.L207L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	207	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CCGCATGGTTCTAACCTACCA	0.537000													13	34					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37596284	37596284	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:37596284A>G	ENST00000475892.1	-	20	1945	c.1762T>C	c.(1762-1764)Tct>Cct	p.S588P	SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000350612.6_Intron|SUPT20H_ENST00000356185.3_Intron	NM_001278480.1	NP_001265409.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGGCTCAGAGACCTTTGCTGC	0.527000													7	15					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277344	135277344	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:135277344C>T	ENST00000334270.2	-	2	904	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	289					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCCAATGCCTCAAATTCCTGG	0.478000													51	177					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323114	31323114	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:31323114A>G	ENST00000265071.2	+	12	2337	c.2072A>G	c.(2071-2073)gAc>gGc	p.D691G		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	691					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACGAAGGGACATTGTGCCC	0.498000													23	22					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164501	26164501	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:26164501C>G	ENST00000335473.7	+	4	868	c.618C>G	c.(616-618)acC>acG	p.T206T	MYO18B_ENST00000407587.2_Silent_p.T206T|MYO18B_ENST00000536101.1_Silent_p.T206T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	206						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCCAGCACCGAGATCTTGG	0.597000													6	14					0	0	1	0	0
RPLP2	6181	broad.mit.edu	37	11	810271	810271	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:810271G>A	ENST00000321153.4	+	2	431	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	RPLP2_ENST00000532004.1_Intron|RPLP2_ENST00000530797.1_Missense_Mutation_p.G13R	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	13					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGCCCTAGGGGGCAACTC	0.687000													4	0					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267452	71267452	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:71267452C>G	ENST00000554752.2	-	2	751	c.752G>C	c.(751-753)aGa>aCa	p.R251T	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R251T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R251T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	251	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTCATCCCTCTGGCAATCTG	0.502000													23	51					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5212250	5212250	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:5212250A>T	ENST00000256496.3	+	2	432	c.186A>T	c.(184-186)aaA>aaT	p.K62N	ARL8B_ENST00000419534.2_Missense_Mutation_p.K62N|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	62					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AGGTAACTAAAGGTAACGTCA	0.353000													4	19					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854667	4854667	+	Silent	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:4854667T>G	ENST00000252318.2	+	5	1270	c.933T>G	c.(931-933)cgT>cgG	p.R311R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	311						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAACATTCGTTTTGACACCT	0.498000													6	53					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26107941	26107941	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:26107941C>T	ENST00000356865.6	-	1	414	c.303G>A	c.(301-303)ccG>ccA	p.P101P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	101					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTTCACCGCCGGCACGAAGT	0.637000													5	5					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113941514	113941514	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:113941514G>A	ENST00000348367.4	-	3	226	c.29C>T	c.(28-30)aCa>aTa	p.T10I	GPAM_ENST00000369425.1_Missense_Mutation_p.T10I|GPAM_ENST00000480130.1_5'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.T10I			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	10					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACATCTATTGTACCAAGGGT	0.368000													8	39					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55651072	55651072	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:55651072G>C	ENST00000339140.3	+	1	1240	c.928G>C	c.(928-930)Gat>Cat	p.D310H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	310					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCTCTCTTTGATCTTTGAAA	0.478000													6	2					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196436	24196436	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:24196436T>A	ENST00000303531.7	+	14	1690	c.1538T>A	c.(1537-1539)aTt>aAt	p.I513N	PRKCB_ENST00000321728.7_Missense_Mutation_p.I513N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	513	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCTAGATAATTGCTTATCAG	0.448000													30	18					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42629234	42629234	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:42629234C>T	ENST00000347667.5	+	7	1597	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000330333.6_Silent_p.F428F|BACE2_ENST00000328735.6_Intron	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGGTGGGCTTCGCAGCGAGCC	0.547000													5	36					0	0	1	0	0
DCPS	28960	broad.mit.edu	37	11	126215400	126215400	+	Missense_Mutation	SNP	C	C	G	rs148207687	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:126215400C>G	ENST00000263579.4	+	6	1235	c.906C>G	c.(904-906)atC>atG	p.I302M	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	302					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CTGAGGTGATCGAGAACTTGG	0.657000													16	40					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128029015	128029015	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:128029015C>T	ENST00000493187.2	-	12	2113	c.1650G>A	c.(1648-1650)tcG>tcA	p.S550S	ERCC3_ENST00000285398.2_Silent_p.S614S			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	614	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCAGATCAAACGAAGTGTCAC	0.423000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	65					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28513303	28513303	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:28513303G>C	ENST00000356897.1	-	4	478	c.456C>G	c.(454-456)cgC>cgG	p.R152R		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	152					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTACCTGGAAGCGGAGGTGCC	0.642000													15	30					0	0	1	0	0
C19orf53	28974	broad.mit.edu	37	19	13885491	13885491	+	Silent	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:13885491G>T	ENST00000588234.1	+	2	433	c.123G>T	c.(121-123)gcG>gcT	p.A41A		NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	41										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CCAAGAAGGCGCGCGTCGTGC	0.682000													31	41					5.8336e-16	6.44634e-16	1	1	0
SHMT2	6472	broad.mit.edu	37	12	57627603	57627603	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:57627603G>A	ENST00000328923.3	+	10	1647	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	SHMT2_ENST00000414700.3_Missense_Mutation_p.V378M|SHMT2_ENST00000553474.1_Missense_Mutation_p.V378M|SHMT2_ENST00000557487.1_Missense_Mutation_p.V389M|SHMT2_ENST00000393827.4_Missense_Mutation_p.V303M|SHMT2_ENST00000449049.3_Missense_Mutation_p.V378M	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	399						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGCTGAGCGGGTGCTAGAGCT	0.607000													13	23					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12014353	12014353	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:12014353C>T	ENST00000269159.3	+	5	713	c.471C>T	c.(469-471)ctC>ctT	p.L157L	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	157					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCCAGCGGCTCCGGGTCTCCG	0.587000													11	6					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113862925	113862925	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:113862925C>T	ENST00000337344.4	-	1	100	c.24G>A	c.(22-24)caG>caA	p.Q8Q	PCID2_ENST00000246505.5_Silent_p.Q8Q|CUL4A_ENST00000375441.3_Intron|PCID2_ENST00000375479.2_Silent_p.Q8Q|PCID2_ENST00000375457.2_5'UTR|PCID2_ENST00000375477.1_Silent_p.Q8Q	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	8					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTGCAGGTACTGGTTAATGG	0.692000													3	18					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219557993	219557993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:219557993G>T	ENST00000295709.3	+	17	2353	c.2074G>T	c.(2074-2076)Gaa>Taa	p.E692*	STK36_ENST00000392105.3_Nonsense_Mutation_p.E692*|STK36_ENST00000392106.2_Nonsense_Mutation_p.E692*|STK36_ENST00000440309.1_Nonsense_Mutation_p.E692*	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	692					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCAGCTAACTGAAGACAGCAG	0.488000													26	4					2.44723e-14	2.6888e-14	1	1	0
DCUN1D2	55208	broad.mit.edu	37	13	114134912	114134912	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:114134912G>C	ENST00000478244.1	-	3	649	c.367C>G	c.(367-369)Cta>Gta	p.L123V	DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.L123V	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	123	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			ATGCCATCTAGAAATTCCTTT	0.383000													21	116					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8517968	8517968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:8517968G>A	ENST00000381196.4	-	18	1966	c.1423C>T	c.(1423-1425)Caa>Taa	p.Q475*	PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q472*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q472*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q462*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q462*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q475*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q465*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q465*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	475	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAGTGATTTGGCTGTCAGCT	0.408000										TSP Lung(15;0.13)			58	8					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46890381	46890381	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:46890381C>G	ENST00000012443.4	+	8	1039	c.936C>G	c.(934-936)atC>atG	p.I312M	PPP5C_ENST00000391919.1_Missense_Mutation_p.I184M	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	312	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAACCAGATCTACGGTTTCG	0.572000													3	17					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999332	127999332	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:127999332C>G	ENST00000324460.6	-	8	1707	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	502					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ACATCTATCTCAAAGGTGACT	0.453000										Prostate(1;0.17)			53	21					0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30660098	30660098	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:30660098G>A	ENST00000215781.2	-	3	573	c.533C>T	c.(532-534)cCc>cTc	p.P178L	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Missense_Mutation_p.P157L	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	178					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GGCAGGGGTGGGGGTGGGCGG	0.642000													12	24					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166092	44166092	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:44166092G>C	ENST00000431837.1	+	3	353	c.45G>C	c.(43-45)caG>caC	p.Q15H	IRAK4_ENST00000448290.2_Missense_Mutation_p.Q139H|IRAK4_ENST00000551736.1_Missense_Mutation_p.Q139H|IRAK4_ENST00000440781.2_Missense_Mutation_p.Q15H	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	139					innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CACCTGTGCAGAATCTTGAAC	0.383000													27	36					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139944	40139944	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:40139944C>G	ENST00000325157.6	-	7	1814	c.1564G>C	c.(1564-1566)Gac>Cac	p.D522H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	522										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATGAACTGGTCTACATTTTGG	0.413000													11	63					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366763	82366763	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:82366763C>T	ENST00000509081.1	-	8	1063	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R240Q|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.R282Q			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	282	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CATTCTTGCTCGGTGTTTTTT	0.373000													21	49					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52805814	52805814	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:52805814G>A	ENST00000287727.3	+	17	4022	c.3850G>A	c.(3850-3852)Gat>Aat	p.D1284N	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D1225N|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D1284N			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1284					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGTCCTATAGATGGGAAGTC	0.373000													14	56					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085300	92085300	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:92085300T>C	ENST00000298047.6	+	1	39	c.22T>C	c.(22-24)Tgt>Cgt	p.C8R	FAT3_ENST00000409404.2_Missense_Mutation_p.C8R|FAT3_ENST00000541502.1_Missense_Mutation_p.C8R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	8					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATGGGACACTGTGTGGGCAC	0.512000										TCGA Ovarian(4;0.039)			8	18					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41340453	41340453	+	Silent	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:41340453T>A	ENST00000361937.3	-	22	3022	c.2598A>T	c.(2596-2598)ccA>ccT	p.P866P	INO80_ENST00000401393.3_Silent_p.P866P			Q9ULG1	INO80_HUMAN	INO80 complex subunit	866	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				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						CTGGTGCAAATGGAGAAAGAA	0.383000													23	28					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270389	48270389	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:48270389C>G	ENST00000225964.5	-	26	1905	c.1787G>C	c.(1786-1788)gGa>gCa	p.G596A		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	596	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCTCGCTCTCCAGCCTTGCC	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						7	4					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731105	185731105	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:185731105G>A	ENST00000302277.6	+	2	715	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	41						intracellular	zinc ion binding	p.E41Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACTATGCTGAGAAGGAAAA	0.358000													10	9					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41012779	41012779	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:41012779G>T	ENST00000372699.3	+	5	1035	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TAATCAACACGTGAAATCTCA	0.408000													9	37					3.09899e-07	3.30558e-07	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073497	134073497	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:134073497C>T	ENST00000264360.5	+	1	3028	c.2202C>T	c.(2200-2202)atC>atT	p.I734I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCCATGATCGTGCTGGCCG	0.597000													12	45					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519039	169519039	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:169519039C>G	ENST00000367796.3	-	10	1812	c.1611G>C	c.(1609-1611)caG>caC	p.Q537H	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Splice_Site_p.Q537H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	537	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GACAAAATACCTGTATTCCTT	0.428000													4	26					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323880	43323880	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:43323880C>G	ENST00000361428.2	-	4	1269	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.E398Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	398					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAAAAACTCTCAAGCTGCAAA	0.423000													7	30					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24411103	24411103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:24411103G>A	ENST00000330966.7	-	16	1990	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	MYOM3_ENST00000329601.7_Nonsense_Mutation_p.Q609*|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.Q609*|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	609	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGAAAGCTTGAACTTGAGCT	0.527000													35	75					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70252893	70252893	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:70252893A>C	ENST00000609923.1	-	6	704	c.606T>G	c.(604-606)taT>taG	p.Y202*	SLC25A16_ENST00000539557.1_Nonsense_Mutation_p.Y104*|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16						coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ACATACCTGCATATGGAGCCA	0.313000													18	49					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93278101	93278101	+	Splice_Site	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:93278101T>G	ENST00000163416.2	+	6	1576		c.e6+2		GOLGA5_ENST00000355976.2_Splice_Site	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATACTGCAAGTAAGCATGAAA	0.388000			T	RET	papillary thyroid								10	18					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163899810	163899810	+	Splice_Site	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:163899810A>C	ENST00000361752.3	+	3	836		c.e3-1		QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTTTTTTCTCAGTTTAATTTT	0.348000													17	34					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32620829	32620829	+	Silent	SNP	C	C	A	rs147158293		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:32620829C>A	ENST00000521670.1	+	12	1470	c.1362C>A	c.(1360-1362)tcC>tcA	p.S454S	NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron	NM_013960.3	NP_039254.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GATCTTCTTCCATTCCCCATT	0.428000													18	56					1.56452e-12	1.71162e-12	1	1	0
ZMYND15	84225	broad.mit.edu	37	17	4644988	4644988	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:4644988C>G	ENST00000433935.1	+	3	761	c.704C>G	c.(703-705)tCa>tGa	p.S235*	ZMYND15_ENST00000269289.6_Nonsense_Mutation_p.S235*|ZMYND15_ENST00000573751.2_Nonsense_Mutation_p.S235*|ZMYND15_ENST00000592813.1_Nonsense_Mutation_p.S235*	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	235							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGCTGGGGCTCAGGGACCAAG	0.592000													78	9					0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246727686	246727686	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:246727686C>T	ENST00000366514.4	-	2	549	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	TFB2M_ENST00000544618.1_Missense_Mutation_p.A122T	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	122					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CTTTCGAGCGCAACCACTTTG	0.378000													34	5					0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7891956	7891956	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:7891956G>C	ENST00000539054.1	-	5	413	c.414C>G	c.(412-414)atC>atG	p.I138M	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.I102M|TXNDC5_ENST00000379757.4_Missense_Mutation_p.I210M			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CGAAGAACTTGATAAAGTGGT	0.512000													10	20					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101983780	101983780	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:101983780A>G	ENST00000348070.1	-	3	379	c.380T>C	c.(379-381)tTc>tCc	p.F127S	PCSK6_ENST00000358417.3_Missense_Mutation_p.F127S|PCSK6_ENST00000344273.2_Missense_Mutation_p.F127S|PCSK6_ENST00000398181.2_Missense_Mutation_p.F127S|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	128					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCTGAGGAAGGTGTGAGG	0.458000													14	32					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119109398	119109398	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:119109398C>G	ENST00000328252.3	+	15	4243	c.3874C>G	c.(3874-3876)Caa>Gaa	p.Q1292E	PAPPA_ENST00000534838.1_Missense_Mutation_p.Q330E	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1292	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGATCACCATCAAGTCTATGC	0.547000													18	8					0	0	1	0	0
GNPDA2	132789	broad.mit.edu	37	4	44724165	44724165	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:44724165G>A	ENST00000509756.1	-	2	166	c.60C>T	c.(58-60)atC>atT	p.I20I	GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000507917.1_Silent_p.I20I|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000295448.3_Silent_p.I20I			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	20					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TGCGATTACAGATGTATTTGG	0.383000													13	23					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91742594	91742594	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:91742594C>G	ENST00000370425.3	-	31	3515	c.3417G>C	c.(3415-3417)ggG>ggC	p.G1139G	HFM1_ENST00000370424.3_Silent_p.G818G|HFM1_ENST00000294696.5_Silent_p.G371G|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1139							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTCTCGGTTCCCAGGTTTTT	0.274000													28	129					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141688984	141688984	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:141688984C>T	ENST00000499676.2	-	9	1155		c.e9-1		TFDP2_ENST00000489671.1_Splice_Site|TFDP2_ENST00000397991.4_Splice_Site|TFDP2_ENST00000317104.7_Splice_Site|TFDP2_ENST00000477292.1_Splice_Site|TFDP2_ENST00000486111.1_Splice_Site|TFDP2_ENST00000467072.1_Splice_Site|TFDP2_ENST00000310282.6_Splice_Site|TFDP2_ENST00000479040.1_Splice_Site|TFDP2_ENST00000495310.1_Splice_Site	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)						cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						GCTTCTCTATCTTTAAAACAT	0.388000													20	60					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3312960	3312960	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:3312960A>G	ENST00000252032.9	-	11	1097	c.1030T>C	c.(1030-1032)Tac>Cac	p.Y344H	C20orf194_ENST00000453730.2_Missense_Mutation_p.Y83H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	344										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCAAAAAAGTATGTTCTCGAA	0.393000													13	25					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:121454196C>T	ENST00000288757.3	-	1	104	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28K|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28K	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637000													32	9					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26898056	26898056	+	Silent	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:26898056G>T	ENST00000374168.2	+	18	1861	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	RPS6KA1_ENST00000526792.1_Silent_p.G477G|RPS6KA1_ENST00000374166.4_Silent_p.G558G|RPS6KA1_ENST00000374162.2_Silent_p.G477G|RPS6KA1_ENST00000531382.1_Silent_p.G578G|RPS6KA1_ENST00000530003.1_Silent_p.G553G	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	569	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTGAGAATGGGCTCCTCATGA	0.572000													11	8					0.000978159	0.00100431	1	1	0
PRKG1	5592	broad.mit.edu	37	10	54048513	54048513	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:54048513G>A	ENST00000373980.4	+	15	2154	c.1737G>A	c.(1735-1737)atG>atA	p.M579I	PRKG1_ENST00000401604.2_Missense_Mutation_p.M564I|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.M282I|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.M552I	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	564	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGATCCTATGAAAACCTATA	0.353000													42	35					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783296	43783296	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:43783296G>T	ENST00000372476.3	+	16	2761	c.2682G>T	c.(2680-2682)ttG>ttT	p.L894F	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L539F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	894	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTGCAAATTGGGGCATCACC	0.493000													91	37					1.29119e-40	1.46258e-40	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4872491	4872491	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:4872491G>C	ENST00000252318.2	+	8	1769	c.1432G>C	c.(1432-1434)Gac>Cac	p.D478H		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	478						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TAAAACTTTTGACTGGTACCT	0.378000													21	41					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67518664	67518664	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:67518664G>A	ENST00000235345.5	-	2	297	c.212C>T	c.(211-213)tCc>tTc	p.S71F	SLC35D1_ENST00000506472.2_5'UTR	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	71					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	ACATAGTGAGGAGGGAAATCT	0.398000													20	18					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026770	65026770	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:65026770G>C	ENST00000262138.3	+	4	636	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	212					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GAAAAATAAAGAGTTGAGGTT	0.488000													10	57					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10568572	10568572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:10568572G>T	ENST00000380702.2	+	9	829	c.829G>T	c.(829-831)Gag>Tag	p.E277*	PDE4A_ENST00000344979.3_Nonsense_Mutation_p.E60*|PDE4A_ENST00000440014.2_Nonsense_Mutation_p.E238*|PDE4A_ENST00000352831.6_Nonsense_Mutation_p.E299*|PDE4A_ENST00000293683.5_Nonsense_Mutation_p.E273*|PDE4A_ENST00000592685.1_Nonsense_Mutation_p.E277*			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	299					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAATGAAGTGGAGATCCCATC	0.567000													11	30					9.31168e-06	9.66401e-06	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65268252	65268252	+	RNA	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:65268252C>T	ENST00000534336.1	+	0	3020					NR_002819.2																						TCCGTGAGGTCGGCAATATGT	0.453000													5	29					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124710782	124710782	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:124710782G>C	ENST00000262219.6	-	5	394	c.327C>G	c.(325-327)ctC>ctG	p.L109L	ANXA13_ENST00000419625.1_Silent_p.L68L	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	68					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTCACTCTTGAGTACTTCCT	0.582000													29	60					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67331439	67331439	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:67331439C>G	ENST00000304372.5	-	7	1169	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	372						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTCCTTGGCTCCAGATGAGTC	0.473000													12	42					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95583871	95583871	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:95583871G>C	ENST00000393223.3	-	10	1143	c.481C>G	c.(481-483)Cga>Gga	p.R161G	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.R233G|MTMR2_ENST00000409459.1_Missense_Mutation_p.R161G|MTMR2_ENST00000352297.7_Missense_Mutation_p.R161G	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	233						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCATATCGTTCATTTATC	0.363000													19	65					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65897516	65897516	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:65897516C>T	ENST00000395644.4	-	3	616	c.281G>A	c.(280-282)gGt>gAt	p.G94D	VWA9_ENST00000431261.2_Missense_Mutation_p.G15D|VWA9_ENST00000569491.1_Missense_Mutation_p.G45D|VWA9_ENST00000442903.3_Intron|VWA9_ENST00000420799.2_Missense_Mutation_p.G37D|VWA9_ENST00000313182.2_Missense_Mutation_p.G94D|VWA9_ENST00000567744.1_Missense_Mutation_p.G130D					von Willebrand factor A domain containing 9																		ATTGCAAACACCAACTAATGC	0.353000													33	56					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110590241	110590241	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:110590241G>C	ENST00000399066.3	-	5	1458	c.731C>G	c.(730-732)tCt>tGt	p.S244C	SYBU_ENST00000533171.1_Missense_Mutation_p.S247C|SYBU_ENST00000419099.1_Missense_Mutation_p.S246C|SYBU_ENST00000276646.9_Missense_Mutation_p.S247C|SYBU_ENST00000408889.3_Missense_Mutation_p.S128C|SYBU_ENST00000532779.1_Missense_Mutation_p.S179C|SYBU_ENST00000529175.1_Missense_Mutation_p.S41C|SYBU_ENST00000528647.1_Missense_Mutation_p.S246C|SYBU_ENST00000422135.1_Missense_Mutation_p.S247C|SYBU_ENST00000533065.1_Missense_Mutation_p.S128C|SYBU_ENST00000529690.1_Missense_Mutation_p.S117C|SYBU_ENST00000433638.1_Missense_Mutation_p.S247C|SYBU_ENST00000424158.2_Missense_Mutation_p.S252C|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000528331.1_Missense_Mutation_p.S128C|SYBU_ENST00000533895.1_Missense_Mutation_p.S246C|SYBU_ENST00000408908.2_Missense_Mutation_p.S247C|SYBU_ENST00000440310.1_Missense_Mutation_p.S247C|SYBU_ENST00000446070.2_Missense_Mutation_p.S246C	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	247	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GTACCTTCCAGAACGCCTGAA	0.423000													63	74					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609473	158609473	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:158609473C>T	ENST00000368147.4	-	35	5059	c.4879G>A	c.(4879-4881)Gag>Aag	p.E1627K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAATGTCTCTGCCTGGAAA	0.458000													15	59					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241944	7241944	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:7241944T>G	ENST00000542285.1	-	5	859	c.710A>C	c.(709-711)gAg>gCg	p.E237A				P00736	C1R_HUMAN	complement component 1, r subcomponent	238	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAAAAGGCTCCAGGAACTT	0.592000													4	13					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379466	78379466	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:78379466T>C	ENST00000255192.3	+	7	863	c.797T>C	c.(796-798)gTt>gCt	p.V266A	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.V202A	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	266	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GAGTCCAGAGTTGCCACCAGA	0.448000													13	19					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	381690	381690	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:381690G>T	ENST00000329962.6	+	20	3018	c.3018G>T	c.(3016-3018)gaG>gaT	p.E1006D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	1006						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGGCTGGAGGTGGAGCGGC	0.701000													8	5					0.0381472	0.0384981	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29430007	29430007	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:29430007C>T	ENST00000377136.1	+	4	926	c.461C>T	c.(460-462)tCg>tTg	p.S154L	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.S154L|OR2H1_ENST00000377132.1_Missense_Mutation_p.S154L|OR2H1_ENST00000442615.1_Missense_Mutation_p.S154L|OR2H1_ENST00000396792.2_Missense_Mutation_p.S154L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S154L(1)		large_intestine(5)|lung(12)	17						CTGGTTCAATCGATAGTCCAG	0.557000													87	59					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303202	53303202	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:53303202C>T	ENST00000438150.2	-	2	2630	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	ZNF28_ENST00000360272.4_Silent_p.E579E|ZNF28_ENST00000414252.2_Silent_p.E579E|ZNF28_ENST00000457749.2_Silent_p.E632E			P17035	ZNF28_HUMAN	zinc finger protein 28	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.433000													36	139					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23377003	23377003	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:23377003G>C	ENST00000400181.4	+	4	805	c.701G>C	c.(700-702)aGa>aCa	p.R234T	KDM1A_ENST00000542151.1_Missense_Mutation_p.R234T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.R214T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	214	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTTTTCATTAGAAACCGCACA	0.378000													15	26					0	0	1	0	0
HN1L	90861	broad.mit.edu	37	16	1741902	1741902	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:1741902G>C	ENST00000248098.3	+	3	309	c.252G>C	c.(250-252)ctG>ctC	p.L84L	HN1L_ENST00000382710.4_Silent_p.L72L|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000562684.1_Silent_p.L112L|HN1L_ENST00000382711.5_Silent_p.L68L|HN1L_ENST00000561516.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	84						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GACAGCACCTGAACCCACCTG	0.537000													20	13					0	0	1	0	0
LHB	3972	broad.mit.edu	37	19	49519398	49519398	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:49519398G>C	ENST00000221421.2	-	3	352	c.353C>G	c.(352-354)tCt>tGt	p.S118C		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	118					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	CCCACAGTCAGAGGTGCTGCG	0.657000													7	33					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370443	38370443	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:38370443G>C	ENST00000322350.5	+	6	937	c.591G>C	c.(589-591)caG>caC	p.Q197H	EGFLAM_ENST00000354891.3_Missense_Mutation_p.Q197H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	197	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGCGGATCCAGATGGACTCCA	0.507000													34	12					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584						cell junction|synapse|synaptosome	phosphatase binding	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527000													15	9					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40996883	40996883	+	Silent	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:40996883G>T	ENST00000253799.3	+	1	267	c.240G>T	c.(238-240)gtG>gtT	p.V80V	AOC2_ENST00000452774.2_Silent_p.V80V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	80					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CAGGGCTGGTGGACGCAGCCC	0.672000													69	74					8.83742e-36	9.99578e-36	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37267619	37267619	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:37267619C>T	ENST00000373091.3	-	16	2609	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	865					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAACGGATCTCATCGGCCACG	0.577000													5	17					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112769042	112769042	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:112769042C>T	ENST00000369452.4	+	7	1666	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	SHOC2_ENST00000265277.5_Missense_Mutation_p.P395S|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	441					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AAAGAAGCTTCCCCATGGTCT	0.313000													4	22					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13659600	13659600	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:13659600G>C	ENST00000404922.3	+	6	1873	c.1754G>C	c.(1753-1755)cGa>cCa	p.R585P	FBLN2_ENST00000492059.1_Missense_Mutation_p.R585P|FBLN2_ENST00000535798.1_Missense_Mutation_p.R611P|FBLN2_ENST00000295760.7_Missense_Mutation_p.R585P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	585						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGGCGGGCCGAGAGGCCCTG	0.617000													19	69					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468320	6468320	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:6468320C>T	ENST00000381480.2	-	22	1828	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	DENND1C_ENST00000543576.1_Silent_p.K528K	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	572						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGCCTGCGCTCTTGGCTCCCA	0.582000													6	5					0	0	1	0	0
EFHD2	79180	broad.mit.edu	37	1	15736623	15736623	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:15736623C>T	ENST00000375980.4	+	1	233	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	52						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGCGGACTGCGAGCTGA	0.771000													6	4					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140139831	140139831	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:140139831C>G	ENST00000344774.4	-	3	504	c.450G>C	c.(448-450)ttG>ttC	p.L150F	FAM166A_ENST00000388932.2_Missense_Mutation_p.L150F	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	150										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CTGGGTGTCCCAAGTCTCTGG	0.637000													11	43					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101567972	101567972	+	Missense_Mutation	SNP	T	T	C	rs72558198		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:101567972T>C	ENST00000370449.4	+	13	1914	c.1801T>C	c.(1801-1803)Tcc>Ccc	p.S601P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	601	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATGATGATCTCCTCCATGCT	0.488000													4	87					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1142135	1142135	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:1142135C>T	ENST00000358220.1	+	9	819	c.675C>T	c.(673-675)atC>atT	p.I225I	WDR37_ENST00000263150.4_Silent_p.I225I|WDR37_ENST00000381329.1_Silent_p.I225I			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	225			I -> V (in dbSNP:rs2306407).							breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGCTCATATCTGGAGATACG	0.512000													42	37					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073014	220073014	+	Silent	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:220073014T>G	ENST00000409594.1	+	5	666	c.471T>G	c.(469-471)tcT>tcG	p.S157S	ZFAND2B_ENST00000289528.5_Silent_p.S157S|ZFAND2B_ENST00000409336.1_Silent_p.S157S|ZFAND2B_ENST00000409206.1_Silent_p.S157S|ZFAND2B_ENST00000409097.1_Silent_p.S157S|ZFAND2B_ENST00000409217.1_Silent_p.S157S|ZFAND2B_ENST00000444522.2_Silent_p.S157S			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	157						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGGCTTCTACAAGCACTG	0.552000													4	19					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142519683	142519683	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:142519683A>T	ENST00000367630.4	+	6	686	c.628A>T	c.(628-630)Act>Tct	p.T210S	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000367621.1_Missense_Mutation_p.T152S|VTA1_ENST00000452973.2_Missense_Mutation_p.T152S	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	210	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGGCAACTATACTGGAATACA	0.473000													9	12					0	0	1	0	0
SH2D6	284948	broad.mit.edu	37	2	85662567	85662567	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:85662567C>T	ENST00000340326.2	+	2	361	c.200C>T	c.(199-201)tCg>tTg	p.S67L	SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000389938.2_Intron	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	67	SH2.									central_nervous_system(1)|lung(2)	3						CCTTGGTACTCGGGGAACTGT	0.567000													37	6					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148785	170148785	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:170148785C>A	ENST00000434108.1	+	4	280	c.280C>A	c.(280-282)Ccc>Acc	p.P94T	KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000411494.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	96	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGGTTCTCCCTGTGTGGA	0.512000													20	8					1.2644e-06	1.33388e-06	1	1	0
KIAA1191	57179	broad.mit.edu	37	5	175782709	175782709	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:175782709G>A	ENST00000298569.4	-	4	605	c.72C>T	c.(70-72)atC>atT	p.I24I	KIAA1191_ENST00000510164.1_Silent_p.I24I|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000393725.2_Silent_p.I5I|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	24							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGTATATCCCGATGGGCAGGG	0.567000													27	9					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45779283	45779283	+	Silent	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:45779283T>C	ENST00000389061.5	+	16	1533	c.1329T>C	c.(1327-1329)aaT>aaC	p.N443N	SACM1L_ENST00000418611.1_Silent_p.N340N|SACM1L_ENST00000541314.1_Silent_p.N382N	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	443	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACAACGCAAATGCTTGTGCCA	0.373000													50	3					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55075104	55075104	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:55075104G>T	ENST00000302250.2	-	8	1755	c.1595C>A	c.(1594-1596)tCc>tAc	p.S532Y	ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S345Y|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	532						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCCGGGGGGAGGATGCCAG	0.647000													11	42					5.50884e-06	5.74055e-06	1	1	0
FBXO48	554251	broad.mit.edu	37	2	68692015	68692015	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:68692015C>G	ENST00000377957.3	-	3	670	c.263G>C	c.(262-264)cGa>cCa	p.R88P		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48											endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TATTTCTCTTCGGCACACAGC	0.433000													19	69					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180430855	180430855	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:180430855G>C	ENST00000342868.6	+	5	971		c.e5-1			NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3						lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTCTGTTTCAGGGAAAATCCA	0.552000													114	70					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984212	12984212	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:12984212C>G	ENST00000251472.4	+	25	3377	c.3338C>G	c.(3337-3339)tCg>tGg	p.S1113W		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1113					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGCTGTCGTCGCTGAACCGC	0.672000													4	11					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241938	38241938	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:38241938C>G	ENST00000302609.7	-	6	700	c.488G>C	c.(487-489)aGa>aCa	p.R163T	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTTCTGATGTCTTATGAGGTC	0.363000													71	59					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565198	169565198	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:169565198G>A	ENST00000263686.6	-	12	2103	c.2066C>T	c.(2065-2067)tCa>tTa	p.S689L	SELP_ENST00000367788.2_Missense_Mutation_p.S627L|SELP_ENST00000367791.2_Missense_Mutation_p.S503L|SELP_ENST00000367792.2_Missense_Mutation_p.S505L|SELP_ENST00000367794.2_Missense_Mutation_p.S627L|SELP_ENST00000367793.2_Missense_Mutation_p.S627L|SELP_ENST00000458599.2_Missense_Mutation_p.S505L|SELP_ENST00000367786.2_Missense_Mutation_p.S627L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	689	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCATTGTCCTGAAGGTCTGCA	0.493000											OREG0004610	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SELP|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	66	314					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112360240	112360240	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:112360240T>C	ENST00000361804.4	+	22	2597	c.2471T>C	c.(2470-2472)aTt>aCt	p.I824T		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	824					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTAGAAGGTATTATTACTCGA	0.323000													73	25					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49691480	49691480	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:49691480C>G	ENST00000257860.4	+	7	2737	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	413	Tail.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CCCGTCCATTCTTTTGCCTCC	0.632000													39	27					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128298	150128298	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:150128298G>C	ENST00000369124.4	+	3	494	c.216G>C	c.(214-216)ctG>ctC	p.L72L	PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	72	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATTTGACCTGAGTGACTATG	0.458000													29	172					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941249	13941249	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:13941249C>T	ENST00000254323.2	+	13	2544	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	ZSWIM4_ENST00000440752.2_Silent_p.F619F	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	785							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTCGGCCTTCGAGGCGGCCT	0.706000													12	49					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88258484	88258484	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:88258484T>C	ENST00000418177.2	-	9	3086	c.2719A>G	c.(2719-2721)Atg>Gtg	p.M907V	GRM5_ENST00000305447.4_Missense_Mutation_p.M907V|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	907					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TACCTGCTCATTGTTGCTCTC	0.507000													102	95					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102573704	102573704	+	Nonsense_Mutation	SNP	G	G	A	rs148894063		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:102573704G>A	ENST00000260229.4	-	3	578	c.487C>T	c.(487-489)Cga>Tga	p.R163*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	163					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ACCTTACCTCGAGTCCTAAAG	0.408000													18	69					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851258	63851258	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:63851258A>G	ENST00000279873.7	+	10	2446	c.2036A>G	c.(2035-2037)tAc>tGc	p.Y679C	ARID5B_ENST00000309334.5_Missense_Mutation_p.Y436C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	679					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCCCTGCTCTACTCTAGGGGC	0.537000													6	15					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18950936	18950936	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:18950936C>T	ENST00000380534.4	-	2	318		c.e2-1		FAM154A_ENST00000380530.1_Splice_Site|FAM154A_ENST00000542071.1_Splice_Site|FAM154A_ENST00000583128.1_Splice_Site	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGATGCCGCCTATAAAAGAC	0.408000													15	31					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30533948	30533948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:30533948C>A	ENST00000358365.3	+	17	1663	c.1436C>A	c.(1435-1437)tCg>tAg	p.S479*	RHOT1_ENST00000583994.1_Nonsense_Mutation_p.S352*|RHOT1_ENST00000545287.2_Nonsense_Mutation_p.S479*|RHOT1_ENST00000333942.6_Nonsense_Mutation_p.S479*|RHOT1_ENST00000354266.3_Nonsense_Mutation_p.S458*|RHOT1_ENST00000581094.1_Nonsense_Mutation_p.S479*|RHOT1_ENST00000394692.2_Nonsense_Mutation_p.S479*	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	479	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATCTCAGAATCGGAATTTCTA	0.308000													15	38					6.81908e-15	7.50294e-15	1	1	0
C12orf56	115749	broad.mit.edu	37	12	64784273	64784273	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:64784273G>A	ENST00000543942.2	-	1	699	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.L25L	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	25										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCGGGCGGCAGATGCCGCCGC	0.682000													17	8					0	0	1	0	0
DEGS1	8560	broad.mit.edu	37	1	224377867	224377867	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:224377867C>A	ENST00000323699.4	+	2	837	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	DEGS1_ENST00000391877.3_Missense_Mutation_p.P224Q	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	224					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTTTGCACCCAATTTCTGGA	0.373000													22	106					4.54149e-19	5.05487e-19	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52857442	52857442	+	RNA	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:52857442G>A	ENST00000451298.1	-	0	263																											AATAATCACAGTAACAGCAGT	0.313000													4	17					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322548	150322548	+	RNA	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:150322548A>G	ENST00000533735.1	-	0	328					NR_024045.1																						AATCCCCCACATCTCTTAGTG	0.423000													15	7					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940335	144940335	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:144940335A>C	ENST00000525985.1	-	2	7158	c.7087T>G	c.(7087-7089)Tac>Gac	p.Y2363D				P58107	EPIPL_HUMAN	epiplakin 1	2363						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCGCCGGTAGGCCACGTCC	0.692000													11	623					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154462	100154462	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:100154462T>C	ENST00000263174.4	+	7	1021	c.646T>C	c.(646-648)Tca>Cca	p.S216P	PALMD_ENST00000605497.1_Missense_Mutation_p.S216P	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	216					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGGGCAAAAGTCAGTGTATGC	0.428000													17	74					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61124113	61124113	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:61124113T>C	ENST00000546151.1	-	3	341	c.73A>G	c.(73-75)Atc>Gtc	p.I25V	CYB561A3_ENST00000539890.1_Missense_Mutation_p.I25V|CYB561A3_ENST00000426130.2_Missense_Mutation_p.I42V|CYB561A3_ENST00000536915.1_Missense_Mutation_p.I25V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.I25V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.I25V|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000544118.1_Missense_Mutation_p.I25V					cytochrome b561 family, member A3																		ATCCAGTAGATAGTGAAGAGG	0.532000													28	18					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867571	45867571	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:45867571G>A	ENST00000391945.4	-	9	814	c.737C>T	c.(736-738)tCc>tTc	p.S246F	ERCC2_ENST00000391944.3_Missense_Mutation_p.S168F|ERCC2_ENST00000391940.4_Missense_Mutation_p.S222F|ERCC2_ENST00000485403.2_Missense_Mutation_p.S222F|ERCC2_ENST00000221481.6_Missense_Mutation_p.P127S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	246	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCTCATGGAGTCGATGCA	0.682000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	15					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65014329	65014329	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:65014329G>A	ENST00000262138.3	+	2	247	c.245G>A	c.(244-246)cGg>cAg	p.R82Q		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	82					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CACTGCTTCCGGATCAATCAC	0.537000													13	36					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117023080	117023080	+	Silent	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:117023080A>G	ENST00000284629.2	-	7	834	c.772T>C	c.(772-774)Ttg>Ctg	p.L258L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	258					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCTGTTGTCAATATTTTACAA	0.259000													23	35					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42658907	42658907	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:42658907T>A	ENST00000372899.1	+	47	5522	c.5264T>A	c.(5263-5265)tTa>tAa	p.L1755*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.L1755*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1755					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGCAACATTTATAATTATTG	0.378000													25	61					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134406058	134406058	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:134406058G>C	ENST00000372211.3	-	2	123	c.98C>G	c.(97-99)gCg>gGg	p.A33G	UCK1_ENST00000372210.3_Intron|UCK1_ENST00000459858.1_Intron|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372215.4_Intron			Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	33					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CGGGATTCCCGCCTGGAACCG	0.637000													11	42					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22280017	22280017	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:22280017C>T	ENST00000407142.1	-	5	1466	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PPM1F_ENST00000538191.1_Missense_Mutation_p.E200K|PPM1F_ENST00000397495.4_Missense_Mutation_p.E304K|PPM1F_ENST00000263212.5_Missense_Mutation_p.E304K			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	304					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCAATGCTTCAATGCGCGCC	0.622000													11	59					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803687	142803687	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:142803687C>G	ENST00000370498.1	-	1	829	c.76G>C	c.(76-78)Gag>Cag	p.E26Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	26										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					aATCTTACCTCATCATTTTTT	0.453000													29	3					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307813	207307813	+	Silent	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:207307813T>G	ENST00000367070.3	+	9	1343	c.1149T>G	c.(1147-1149)ccT>ccG	p.P383P		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	383	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AAAGTCGTCCTGCCAATCACT	0.398000													97	6					0	0	1	0	0
CKS2	1164	broad.mit.edu	37	9	91930187	91930187	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:91930187G>T	ENST00000314355.6	+	2	257	c.162G>T	c.(160-162)tgG>tgT	p.W54C		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	54					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						GTCTAGGCTGGGTTCATTACA	0.373000													12	27					2.80697e-09	3.01504e-09	1	1	0
ANO8	57719	broad.mit.edu	37	19	17441040	17441040	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:17441040C>T	ENST00000159087.4	-	10	1325	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	389	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGGCAACCCCTTCACGCTCA	0.627000													21	7					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53215731	53215731	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:53215731C>A	ENST00000330553.5	-	9	1567	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	511	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGCCCTCCCTTGACGGTGC	0.632000													4	20					0.00024832	0.00025633	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123057774	123057774	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:123057774G>A	ENST00000333479.7	+	26	2402	c.2225G>A	c.(2224-2226)aGa>aAa	p.R742K	KNTC1_ENST00000450485.2_Missense_Mutation_p.R705K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	742					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAGTTTATAAGAGTTTACATG	0.393000													6	84					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980752	23980752	+	RNA	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:23980752G>C	ENST00000455485.1	-	0	3737				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA																							TGCAGAGAGAGACCCCTCCCC	0.562000													7	18					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31009479	31009479	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:31009479C>T	ENST00000409904.3	+	1	332	c.74C>T	c.(73-75)cCa>cTa	p.P25L	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Intron			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCTTGCCTCCCAGGGGCTGTG	0.617000													16	42					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346754	346754	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:346754G>T	ENST00000400256.3	-	5	1075	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	290					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AATGAGTTGAGCTGGCTGTTC	0.507000													31	44					6.00712e-18	6.66686e-18	1	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62857079	62857079	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:62857079G>A	ENST00000584306.1	-	11	3715	c.3185C>T	c.(3184-3186)tCt>tTt	p.S1062F	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S1062F|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.S100F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.S180F|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.S39F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1062						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATTCCCTACAGATGCTTCTTC	0.478000													28	101					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177350	6177350	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:6177350C>G	ENST00000588304.1	+	8	1145	c.699C>G	c.(697-699)atC>atG	p.I233M	ACSBG2_ENST00000586696.1_Missense_Mutation_p.I283M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I283M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I283M|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I96M			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	283					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGATGGACATCTGGGTACCCA	0.493000													4	15					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89846364	89846364	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:89846364G>C	ENST00000389301.3	-	18	1658	c.1628C>G	c.(1627-1629)cCc>cGc	p.P543R	FANCA_ENST00000568369.1_Splice_Site_p.P543R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	543					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTGGCTGTGGGGCTGGTTCCC	0.512000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	22					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729516	106729516	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:106729516C>G	ENST00000299045.3	+	7	1046	c.872C>G	c.(871-873)tCc>tGc	p.S291C		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	291										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GAAAATACCTCCAAGCCAAGC	0.388000													18	52					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117503	96117503	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:96117503G>A	ENST00000278520.5	-	3	837	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	CCDC82_ENST00000423339.2_Missense_Mutation_p.L137F|CCDC82_ENST00000542662.1_Missense_Mutation_p.L137F			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	137							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTTTGTTGAGATCATTATCC	0.323000													18	77					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121212446	121212446	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:121212446A>C	ENST00000264233.5	-	15	2529	c.2401T>G	c.(2401-2403)Tta>Gta	p.L801V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	801					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)		GCATTTAGTAAGGATACCCGA	0.493000								DNA polymerases (catalytic subunits)					25	46					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3861205	3861205	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:3861205G>A	ENST00000404826.2	+	5	976	c.837G>A	c.(835-837)ttG>ttA	p.L279L	SDK1_ENST00000389531.3_Silent_p.L279L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	279					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCATTCATTTGAGCATAGCAA	0.423000													56	16					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49131994	49131994	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:49131994G>A	ENST00000443164.1	+	5	1820	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	SPHK2_ENST00000600537.1_Missense_Mutation_p.R251Q|SPHK2_ENST00000599029.1_Missense_Mutation_p.R274Q|SPHK2_ENST00000598088.1_Missense_Mutation_p.R310Q|SPHK2_ENST00000599748.1_Missense_Mutation_p.R274Q|SPHK2_ENST00000245222.4_Missense_Mutation_p.R310Q|SPHK2_ENST00000340932.3_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	310					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TTGCTGTGCCGGGGTGGTGGC	0.617000													7	34					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107475944	107475944	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:107475944G>A	ENST00000369037.4	-	8	1356	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	PDSS2_ENST00000453874.2_Missense_Mutation_p.S258L	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	360					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GTCAATAGCTGAAGTCACACC	0.433000													15	52					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34654788	34654788	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:34654788C>T	ENST00000314891.6	-	9	1047	c.870G>A	c.(868-870)caG>caA	p.Q290Q		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	290					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCATGACCCTCTGAACATTGT	0.542000													19	22					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23545504	23545504	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:23545504C>T	ENST00000300619.7	-	4	482	c.277G>A	c.(277-279)Gac>Aac	p.D93N	ZNF91_ENST00000397082.2_Missense_Mutation_p.D61N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	93						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCCAAAAGTCTTGAGGAAAA	0.303000													6	54					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915379	156915379	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:156915379G>A	ENST00000257527.4	-	21	2522	c.2444C>T	c.(2443-2445)gCt>gTt	p.A815V	ADAM19_ENST00000394020.1_Missense_Mutation_p.A817V|ADAM19_ENST00000517905.1_Missense_Mutation_p.A815V|ADAM19_ENST00000430702.2_Missense_Mutation_p.A548V	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	815					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGTTCCTAGCAGCCCTGCT	0.647000													10	28					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	181635	181635	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:181635G>A	ENST00000283426.6	+	17	3391	c.3341G>A	c.(3340-3342)aGa>aAa	p.R1114K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1114					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTAGAACTCAGAATCCAAGAA	0.532000													8	45					0	0	1	0	0
PRDX4	10549	broad.mit.edu	37	X	23693156	23693156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:23693156G>T	ENST00000379341.4	+	3	534	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	PRDX4_ENST00000379331.3_Nonsense_Mutation_p.E137*|PRDX4_ENST00000495599.1_3'UTR	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	137	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGACTTGAAGAATTCAGATC	0.338000													19	2					2.37509e-13	2.6021e-13	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58147083	58147083	+	Silent	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:58147083G>T	ENST00000184956.6	-	7	944	c.928C>A	c.(928-930)Cga>Aga	p.R310R	HEATR6_ENST00000585976.1_Silent_p.R310R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	310							binding	p.R310*(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AAAGTTGGTCGAGAAGCACTG	0.388000													14	40					6.72482e-11	7.30504e-11	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38165073	38165073	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:38165073T>A	ENST00000406386.3	+	20	6869	c.6614T>A	c.(6613-6615)cTa>cAa	p.L2205Q	TRIOBP_ENST00000403663.2_Missense_Mutation_p.L492Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2205					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGCAGGTGCTATCGGAGCAG	0.637000													7	57					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159879	8159879	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:8159879G>A	ENST00000314666.6	+	8	992	c.859G>A	c.(859-861)Gag>Aag	p.E287K	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	287					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTACGGCCTGAGGACCCCAC	0.562000													15	1					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134072770	134072770	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:134072770C>T	ENST00000534548.2	-	13	1620	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	519					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGGTTCGGAACGGTTAGATGT	0.378000													5	63					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67180251	67180251	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:67180251G>C	ENST00000219139.3	+	15	1368	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.E394Q	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	394										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AATGATCTTTGAGGTAAGCTG	0.507000													39	136					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088401	50088401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:50088401C>T	ENST00000305386.2	+	1	913	c.415C>T	c.(415-417)Cga>Tga	p.R139*	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	139					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGACTCACTTCGAAAAGCCCA	0.567000													36	25					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58740365	58740365	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:58740365G>C	ENST00000305921.3	+	6	1502	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	424					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCACTGGAGGAGGATCCATG	0.388000											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	21	48					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45266577	45266577	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:45266577C>T	ENST00000372201.4	+	2	515	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	92	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGTCAAAGTCATCCCGCAGA	0.672000													8	7					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170462570	170462570	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:170462570C>T	ENST00000260970.3	+	5	378	c.158C>T	c.(157-159)tCa>tTa	p.S53L	PPIG_ENST00000462903.1_Missense_Mutation_p.S53L|PPIG_ENST00000448752.2_Missense_Mutation_p.S53L|PPIG_ENST00000409714.3_Missense_Mutation_p.S53L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	53	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ACCGGGAAATCAACTCAGAAA	0.343000													32	5					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325934	158325934	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:158325934A>G	ENST00000434258.1	+	4	948	c.937A>G	c.(937-939)Ata>Gta	p.I313V	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AATAATGAAAATAGCCCTGGG	0.478000													5	13					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57552351	57552351	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:57552351C>T	ENST00000243077.3	+	11	2194	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	576					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTACTTTGCCGACACCACCA	0.592000													14	20					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95676273	95676273	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:95676273G>A	ENST00000436874.1	+	8	1286	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R346H	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	394						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGCTTAAGCGCAGCTATGAG	0.448000													77	74					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135776988	135776988	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:135776988C>G	ENST00000298552.3	-	19	2711	c.2490G>C	c.(2488-2490)caG>caC	p.Q830H	TSC1_ENST00000440111.2_Missense_Mutation_p.Q830H|TSC1_ENST00000545250.1_Missense_Mutation_p.Q779H	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	830					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTTGGGAAACCTGACTGAGCA	0.458000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	17					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739716	62739716	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:62739716C>T	ENST00000371153.4	-	3	1438	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	354										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GACAACTCTCCCTCCAGGGCC	0.557000													17	41					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152740	49152740	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:49152740C>T	ENST00000453664.1	-	13	2225	c.1907G>A	c.(1906-1908)cGt>cAt	p.R636H	USP19_ENST00000398888.2_Missense_Mutation_p.R545H|USP19_ENST00000398896.1_Missense_Mutation_p.R353H|USP19_ENST00000417901.1_Missense_Mutation_p.R648H|USP19_ENST00000398898.2_Missense_Mutation_p.R585H|USP19_ENST00000434032.2_Missense_Mutation_p.R646H|USP19_ENST00000398892.3_Missense_Mutation_p.R585H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	545					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AATGGCCAGACGCCCACCAGT	0.562000													7	27					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64547317	64547317	+	Silent	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:64547317C>A	ENST00000498707.1	-	30	4977	c.4635G>T	c.(4633-4635)tcG>tcT	p.S1545S	ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.S1517S|ADAMTS9-AS1_ENST00000480831.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1545	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGTCGCGTTCCGACTCCGGTC	0.577000													16	18					1.5739e-10	1.70728e-10	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21780021	21780021	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:21780021C>G	ENST00000206660.6	+	8	969	c.969C>G	c.(967-969)ctC>ctG	p.L323L	RPGRIP1_ENST00000557771.1_Silent_p.L296L|RPGRIP1_ENST00000400017.2_Silent_p.L323L|RPGRIP1_ENST00000556336.1_Silent_p.L296L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	323					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGCCCTCCTCAAGCAAGTGA	0.507000													13	1					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685564	31685564	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:31685564C>G	ENST00000375483.3	+	11	1540	c.1540C>G	c.(1540-1542)Ctg>Gtg	p.L514V		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	514						cytoplasm|extracellular region	lipid binding										GCCCAAAGACCTGGAGACTAC	0.587000													7	26					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753978	3753978	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:3753978C>G	ENST00000378230.3	-	9	1321	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	333						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AACTGGTTTTCTGTTCCTCTT	0.488000													9	18					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225751229	225751229	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:225751229T>C	ENST00000409592.3	-	5	531	c.418A>G	c.(418-420)Aag>Gag	p.K140E	DOCK10_ENST00000258390.7_Missense_Mutation_p.K146E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	146							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GAAGGAAGCTTCTCTGGTTTG	0.328000													17	1					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43604208	43604208	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:43604208G>C	ENST00000360835.4	-	20	2730	c.2604C>G	c.(2602-2604)acC>acG	p.T868T		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGGTCTCATAGGTGGTGATGG	0.602000													13	26					0	0	1	0	0
PSMG1	8624	broad.mit.edu	37	21	40547587	40547587	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:40547587T>C	ENST00000331573.3	-	7	1261	c.796A>G	c.(796-798)Att>Gtt	p.I266V	PSMG1_ENST00000380900.2_Missense_Mutation_p.I245V	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	266					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTTTGGGGAATATTCTGAAAG	0.398000											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	93					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77929063	77929063	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:77929063A>G	ENST00000216479.3	+	4	593	c.433A>G	c.(433-435)Aga>Gga	p.R145G	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.R145G	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	145					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAAACTTCTAAGAGAAGCAAT	0.443000													26	49					0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4177122	4177122	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:4177122C>G	ENST00000337491.2	-	4	455	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	SIRT6_ENST00000601488.1_Missense_Mutation_p.E70Q|SIRT6_ENST00000594279.1_Missense_Mutation_p.E59Q|SIRT6_ENST00000305232.6_Missense_Mutation_p.E131Q|SIRT6_ENST00000381935.3_Missense_Mutation_p.E59Q	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	131	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGGAGCTCTGCCAGTTTG	0.602000													7	5					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968466	99968466	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:99968466G>A	ENST00000298999.3	+	5	898	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E199K|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287			R3H domain and coiled-coil containing 1-like																		GGAAGCATTTGAAGACAAAGA	0.403000													17	38					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137892377	137892377	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:137892377C>T	ENST00000260803.4	-	2	442	c.289G>A	c.(289-291)Ggt>Agt	p.G97S	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	97						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACCCAGCCACCATAGGGTAAC	0.418000													29	103					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13095527	13095527	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:13095527G>C	ENST00000506447.1	+	35	6360	c.6280G>C	c.(6280-6282)Ggt>Cgt	p.G2094R	CEP192_ENST00000325971.8_Missense_Mutation_p.G1498R|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.G1619R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1689										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGGAAACATGGTGGCAACGT	0.458000													22	91					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999158	127999158	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:127999158C>G	ENST00000324460.6	-	8	1881	c.1678G>C	c.(1678-1680)Gat>Cat	p.D560H		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	560					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TTTCTAGTATCAATGCGCTCC	0.413000										Prostate(1;0.17)			62	27					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2012198	2012198	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:2012198G>T	ENST00000343262.4	-	7	839	c.783C>A	c.(781-783)ttC>ttA	p.F261L	RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000526522.1_Missense_Mutation_p.F203L|RPS2_ENST00000530225.1_3'UTR	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	261					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GAGACTTGGTGAATACAGTCT	0.547000													11	26					6.40141e-05	6.63466e-05	1	1	0
TNPO2	30000	broad.mit.edu	37	19	12817070	12817070	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:12817070G>A	ENST00000425528.1	-	15	1965	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	TNPO2_ENST00000356861.5_Silent_p.L536L|TNPO2_ENST00000592287.1_Silent_p.L536L|TNPO2_ENST00000441499.1_Silent_p.L536L|TNPO2_ENST00000450764.2_Silent_p.L536L|TNPO2_ENST00000588216.1_Silent_p.L536L			O14787	TNPO2_HUMAN	transportin 2	536					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATAGAGGATGAGCAGGTTCT	0.622000													5	8					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320279	179320279	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:179320279C>T	ENST00000356834.3	-	5	803	c.766G>A	c.(766-768)Gag>Aag	p.E256K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E256K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	256						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAAGCCCTCGCTGTCCAGC	0.632000													4	15					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433676	73433676	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:73433676C>A	ENST00000263666.4	-	10	2155	c.2041G>T	c.(2041-2043)Gtg>Ttg	p.V681L	PDZRN3_ENST00000535920.1_Missense_Mutation_p.V403L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.V338L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.V338L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.V398L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	681							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCTTGTCCACGCTCTCAGGG	0.637000													6	10					8.12818e-05	8.413e-05	1	1	0
REG3A	5068	broad.mit.edu	37	2	79385844	79385844	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:79385844C>A	ENST00000393878.1	-	2	382	c.128G>T	c.(127-129)gGc>gTc	p.G43V	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.G43V|REG3A_ENST00000305165.2_Missense_Mutation_p.G43V	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	43	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCCTTGGAGCCTTTGGGACA	0.552000													17	1					0.000422831	0.000435885	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319666	21319666	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:21319666T>A	ENST00000583088.1	+	3	1907	c.1012T>A	c.(1012-1014)Tac>Aac	p.Y338N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Y338N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAAGAACCAGTACAAGATTGA	0.587000										Prostate(3;0.18)			14	29					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082837	125082837	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:125082837A>C	ENST00000522917.1	+	30	4170	c.3964A>C	c.(3964-3966)Aag>Cag	p.K1322Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.K1322Q|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1322						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAAAATTTAAGGCAGGTTC	0.413000													4	97					0	0	1	0	0
CHMP4B	128866	broad.mit.edu	37	20	32399400	32399400	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:32399400C>T	ENST00000217402.2	+	1	291	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	42					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						AACAGGAGTTCCTGGAGAAGA	0.647000													4	13					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101243219	101243219	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:101243219A>G	ENST00000259455.2	-	5	1252	c.793T>C	c.(793-795)Tgt>Cgt	p.C265R	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	265					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTTACACAACAGAACACTTTT	0.453000													7	27					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118926023	118926023	+	Missense_Mutation	SNP	C	C	G	rs150918294		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:118926023C>G	ENST00000404233.3	-	5	417	c.293G>C	c.(292-294)cGt>cCt	p.R98P	HYOU1_ENST00000543287.1_Missense_Mutation_p.R11P|HYOU1_ENST00000529972.1_Missense_Mutation_p.R98P|HYOU1_ENST00000525859.1_Missense_Mutation_p.R98P	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	98						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGGAAGTAACGTAGCGTAGC	0.537000													5	105					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451532	55451532	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:55451532C>T	ENST00000446217.1	-	6	1141	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	NLRP7_ENST00000448121.2_Missense_Mutation_p.G219S|NLRP7_ENST00000340844.2_Missense_Mutation_p.G219S|NLRP7_ENST00000328092.5_Missense_Mutation_p.G219S|NLRP7_ENST00000590030.1_Missense_Mutation_p.G219S|NLRP7_ENST00000588756.1_Missense_Mutation_p.G219S|NLRP7_ENST00000592784.1_Missense_Mutation_p.G219S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	219	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTGCAGGGGCCCATGCGGCTG	0.552000													25	18					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316264	43316264	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:43316264G>A	ENST00000361428.2	-	6	2947	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A957V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	957					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCGTAGCTCTGCAATGTCCTT	0.473000													60	64					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24805971	24805971	+	Silent	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:24805971T>C	ENST00000395799.3	+	8	3588	c.3459T>C	c.(3457-3459)aaT>aaC	p.N1153N	TNRC6A_ENST00000315183.7_Silent_p.N1153N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1153	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAATGTGGAATAGTAATTCAT	0.428000													13	14					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25383959	25383959	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:25383959C>A	ENST00000405623.1	-	3	1250	c.795G>T	c.(793-795)aaG>aaT	p.K265N	POMC_ENST00000380794.1_Missense_Mutation_p.K265N|POMC_ENST00000264708.3_Missense_Mutation_p.K265N|POMC_ENST00000395826.2_Missense_Mutation_p.K265N			P01189	COLI_HUMAN	proopiomelanocortin	265					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CTCACTCGCCCTTCTTGTAGG	0.647000													6	39					5.9392e-07	6.30886e-07	1	1	0
SH3TC1	54436	broad.mit.edu	37	4	8218865	8218865	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:8218865C>G	ENST00000539824.1	+	7	956	c.582C>G	c.(580-582)gcC>gcG	p.A194A	SH3TC1_ENST00000245105.3_Silent_p.A270A			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	270							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGTGGCGGCCGCCCCGGAGC	0.662000													3	1					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166578115	166578115	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:166578115G>A	ENST00000296946.2	-	6	1176	c.708C>T	c.(706-708)agC>agT	p.S236S	T_ENST00000366871.3_Silent_p.S236S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	236					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CAGGTTGCTGGCTGTCTCCGG	0.418000									Chordoma, Familial Clustering of				9	54					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483309	28483309	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:28483309T>C	ENST00000261609.7	-	25	3911	c.3803A>G	c.(3802-3804)gAa>gGa	p.E1268G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1268	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCGGGTGTCTTCAAACTGCAA	0.502000													26	31					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609709	105609709	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:105609709C>G	ENST00000254765.3	-	2	354	c.76G>C	c.(76-78)Gaa>Caa	p.E26Q	BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	26						integral to membrane		p.E26K(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATGGCTCCTTCGGCCTCTTGC	0.438000													16	51					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38262959	38262959	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:38262959A>T	ENST00000039007.4	+	6	781	c.629A>T	c.(628-630)aAa>aTa	p.K210I	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	210					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGCGCAGCGAAATTCGGAATG	0.473000													13	2					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101151218	101151218	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:101151218C>T	ENST00000356713.4	+	11	3090	c.2801C>T	c.(2800-2802)cCa>cTa	p.P934L	CNNM1_ENST00000370528.3_Missense_Mutation_p.P813L|CNNM1_ENST00000446890.1_Missense_Mutation_p.P863L|CNNM1_ENST00000370534.4_Missense_Mutation_p.P590L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	934					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGAGGTCACCAGAAGGAGAG	0.448000													10	6					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128288	147128288	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:147128288G>A	ENST00000282928.4	+	1	1118	c.389G>A	c.(388-390)gGc>gAc	p.G130D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	130					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G130A(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCTTCGGGGGCCCACACGGC	0.711000													3	14					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116730000	116730000	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:116730000C>T	ENST00000375300.1	-	19	2607	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	SIK3_ENST00000375288.1_Missense_Mutation_p.D205N|SIK3_ENST00000542607.1_Missense_Mutation_p.D810N|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.D709N|SIK3_ENST00000292055.4_Missense_Mutation_p.D810N|SIK3_ENST00000446921.2_Missense_Mutation_p.D868N			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	810	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGCACTGTCAGCACTCAGC	0.582000													19	21					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242092900	242092900	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:242092900G>A	ENST00000234038.6	+	2	536	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	PPP1R7_ENST00000406106.3_Missense_Mutation_p.R21Q|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Missense_Mutation_p.R21Q|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000404405.3_Missense_Mutation_p.R21Q	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	21						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.R21L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GTTGACAGGCGGGTCGAGTCT	0.493000													9	20					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118452116	118452116	+	Splice_Site	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:118452116T>C	ENST00000534182.2	+	2	271	c.159T>C	c.(157-159)agT>agC	p.S53S	ARCN1_ENST00000392859.3_Intron|ARCN1_ENST00000359415.4_Silent_p.S94S|ARCN1_ENST00000264028.4_Silent_p.S53S			P48444	COPD_HUMAN	archain 1	53					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAACAGAGAGTGTAAGATATG	0.403000													32	77					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94041603	94041603	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:94041603G>C	ENST00000370244.1	-	10	2058	c.1770C>G	c.(1768-1770)caC>caG	p.H590Q	BCAR3_ENST00000539242.1_Missense_Mutation_p.H266Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.H499Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.H590Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.H590Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	590	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCTGGTGTCCGTGAGGCAAGG	0.547000													5	32					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154553936	154553936	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:154553936C>G	ENST00000409959.3	+	32	4323	c.4274C>G	c.(4273-4275)aCc>aGc	p.T1425S	KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1341S|KIAA0922_ENST00000409663.3_Missense_Mutation_p.T1424S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1424						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTAAACTGCACCCTGGAGAAC	0.537000													22	35					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156096689	156096689	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:156096689G>A	ENST00000368297.1	+	2	198	c.96G>A	c.(94-96)gcG>gcA	p.A32A	LMNA_ENST00000368301.2_Intron|LMNA_ENST00000473598.2_Intron|LMNA_ENST00000347559.2_Intron|LMNA_ENST00000361308.4_Intron|LMNA_ENST00000368299.3_Intron|LMNA_ENST00000368300.4_Intron|LMNA_ENST00000448611.2_Intron|LMNA_ENST00000392353.3_Silent_p.A32A	NM_001282624.1	NP_001269553.1	P02545	LMNA_HUMAN	lamin A/C	0	Head.|Interaction with MLIP.		Missing (in EDMD2).		cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGACACGGGCGAAGCCAGGGT	0.647000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				5	5					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43467787	43467787	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:43467787C>G	ENST00000282041.5	-	29	5072	c.5038G>C	c.(5038-5040)Gtc>Ctc	p.V1680L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1680					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATCGCTGACGTAATCCACA	0.458000													16	78					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586967	143586967	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:143586967C>G	ENST00000507359.3	+	2	1781	c.690C>G	c.(688-690)ttC>ttG	p.F230L	KCTD16_ENST00000512467.1_Missense_Mutation_p.F230L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCTCAAATTCAAGCACCTGG	0.433000													34	23					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216279617	216279617	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:216279617G>A	ENST00000354785.4	-	13	2253	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	FN1_ENST00000346544.3_Silent_p.I628I|FN1_ENST00000357009.2_Silent_p.I628I|FN1_ENST00000443816.1_Silent_p.I628I|FN1_ENST00000357867.4_Silent_p.I628I|FN1_ENST00000345488.5_Silent_p.I628I|FN1_ENST00000421182.1_Silent_p.I628I|FN1_ENST00000359671.1_Silent_p.I628I|FN1_ENST00000336916.4_Silent_p.I628I|FN1_ENST00000426059.1_Silent_p.I628I|FN1_ENST00000356005.4_Silent_p.I628I|FN1_ENST00000323926.6_Silent_p.I628I|FN1_ENST00000432072.2_Silent_p.I628I|FN1_ENST00000446046.1_Silent_p.I628I			P02751	FINC_HUMAN	fibronectin 1	628	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTCCACTGGATGGGGTGGG	0.453000													33	3					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19176005	19176005	+	Missense_Mutation	SNP	C	C	T	rs114026861	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:19176005C>T	ENST00000375371.3	-	4	1318	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	433					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATTTGGTGGTCCAGGAGAGTG	0.562000													5	11					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107937750	107937750	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:107937750C>G	ENST00000280758.5	+	3	1852	c.1324C>G	c.(1324-1326)Ctc>Gtc	p.L442V	BTBD11_ENST00000490090.2_Missense_Mutation_p.L442V|BTBD11_ENST00000420571.2_Missense_Mutation_p.L442V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	442						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCTGCAGCCCCTCAATGCCAA	0.572000													5	17					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1335234	1335234	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:1335234G>A	ENST00000320895.5	-	6	991	c.734C>T	c.(733-735)tCa>tTa	p.S245L	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.S112L|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.S245L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	245					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCGCCCCAGTGAGACCTTGTC	0.642000													18	25					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046007	7046007	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:7046007A>G	ENST00000356654.4	+	5	1814	c.1577A>G	c.(1576-1578)cAc>cGc	p.H526R	ATN1_ENST00000396684.2_Missense_Mutation_p.H526R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	526	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGCTCCCACCACGCACACCCT	0.662000													13	25					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398304	102398304	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:102398304C>T	ENST00000260227.4	-	3	487	c.435G>A	c.(433-435)agG>agA	p.R145R		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	145					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATACAACTTTCCTGAAATGCA	0.443000													11	57					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52758859	52758859	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:52758859G>A	ENST00000257901.3	-	2	591	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	172	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAGCCACTGAACAGTGGCT	0.637000													27	33					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44872468	44872468	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:44872468G>C	ENST00000326047.4	+	26	3278	c.3129G>C	c.(3127-3129)ctG>ctC	p.L1043L	KIF15_ENST00000425755.1_Silent_p.L678L	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1043					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCTGGATCTGAAAGAAACCC	0.393000													29	70					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132403208	132403208	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:132403208T>C	ENST00000304858.2	+	3	554	c.265T>C	c.(265-267)Tat>Cat	p.Y89H		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	89					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACCTTGCATATGATATTGT	0.348000													16	42					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133878181	133878181	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:133878181G>A	ENST00000427044.2	-	15	1655	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	RYK_ENST00000296084.4_Silent_p.L539L			P34925	RYK_HUMAN	receptor-like tyrosine kinase	535	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L539V(1)		lung(1)|ovary(3)	4						GTCTGGCCCAGAGTCATGAGT	0.522000													7	16					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45126820	45126820	+	RNA	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:45126820T>G	ENST00000575173.1	-	0	418																											TACCGTTCATTAAACTGCCAA	0.438000													4	93					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667462	122667462	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:122667462G>T	ENST00000195173.4	-	3	522	c.219C>A	c.(217-219)agC>agA	p.S73R	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S73R|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S127R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	73					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGTGTGAGGCTGGGCAGCA	0.642000													5	33					0.014758	0.014933	1	1	0
CEBPE	1053	broad.mit.edu	37	14	23586978	23586978	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:23586978G>C	ENST00000206513.5	-	2	1088	c.564C>G	c.(562-564)tcC>tcG	p.S188S		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GGCCAGCCGGGGAGGGCGCCT	0.662000													6	21					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106892092	106892092	+	Missense_Mutation	SNP	G	G	C	rs34334030		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:106892092G>C	ENST00000286398.7	+	21	3245	c.2957G>C	c.(2956-2958)aGa>aCa	p.R986T	SMC2_ENST00000303219.8_Missense_Mutation_p.R986T|SMC2_ENST00000374787.3_Missense_Mutation_p.R986T|SMC2_ENST00000374793.3_Missense_Mutation_p.R986T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	986					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GTCAATATGAGAGCTATGAAT	0.383000													10	28					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57642507	57642507	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:57642507C>G	ENST00000332782.2	-	4	615	c.414G>C	c.(412-414)caG>caC	p.Q138H	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.Q99H	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	138					intracellular signal transduction		identical protein binding|metal ion binding	p.Q138H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGAAGCATCTCTGCATTTCCA	0.522000													163	254					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993522	96993522	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:96993522G>A	ENST00000361124.4	+	1	1588	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.D385N|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.D377N|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.D377N	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	385						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGGCTCCTGACCAGGAGCA	0.607000													48	1					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83021968	83021968	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:83021968T>C	ENST00000307792.3	-	14	2037	c.1570A>G	c.(1570-1572)Agt>Ggt	p.S524G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.S464G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	524					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCACAAGCACTTCCATACATG	0.498000													15	12					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118867038	118867038	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:118867038G>T	ENST00000504811.1	+	23	2191	c.2007G>T	c.(2005-2007)aaG>aaT	p.K669N	HSD17B4_ENST00000513628.1_Missense_Mutation_p.K507N|HSD17B4_ENST00000414835.2_Missense_Mutation_p.K504N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K620N|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.K626N|HSD17B4_ENST00000256216.6_Missense_Mutation_p.K644N|HSD17B4_ENST00000509514.1_Missense_Mutation_p.K382N	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	644	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGGTGGTGAAGAAAGTAAATG	0.403000													32	32					1.56442e-22	1.74633e-22	1	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81051984	81051984	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:81051984C>T	ENST00000334512.5	+	11	1400	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	276					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTGCTGACTTCACTCAGCCCg	0.677000													19	55					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71630291	71630291	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:71630291C>G	ENST00000226328.4	+	4	1133	c.570C>G	c.(568-570)ctC>ctG	p.L190L	RUFY3_ENST00000536664.1_Silent_p.L174L|RUFY3_ENST00000417478.2_Silent_p.L250L|RUFY3_ENST00000502653.1_Silent_p.L137L|RUFY3_ENST00000381006.3_Silent_p.L190L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	190	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAGAACTTCTCAGGTATGAAC	0.353000													4	17					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			71	66					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053892	97053892	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:97053892A>G	ENST00000326771.2	+	5	829	c.449A>G	c.(448-450)tAt>tGt	p.Y150C	FHL5_ENST00000541107.1_Missense_Mutation_p.Y150C	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	150	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGGCAATTATTGTGTGCCA	0.398000													11	24					0	0	1	0	0
ANKRD10	55608	broad.mit.edu	37	13	111532220	111532220	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:111532220C>G	ENST00000267339.2	-	6	1161	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	343										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CCGCACAACTCAGGGTTAGCT	0.547000													10	96					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041597	86041597	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:86041597C>A	ENST00000414626.2	+	9	2438	c.1549C>A	c.(1549-1551)Cag>Aag	p.Q517K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q537K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	537					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACAAAAAAGGCAGCAGCAGGC	0.343000													16	58					5.3912e-06	5.6256e-06	1	1	0
OR5V1	81696	broad.mit.edu	37	6	29323562	29323562	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:29323562G>C	ENST00000377154.1	-	4	710	c.411C>G	c.(409-411)agC>agG	p.S137R	OR5V1_ENST00000543825.1_Missense_Mutation_p.S137R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATAGAACCTTGCTCAGAATAA	0.443000													12	43					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529641	40529641	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:40529641C>T	ENST00000447116.2	+	6	2067	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	ZNF619_ENST00000314686.5_Missense_Mutation_p.S531L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S547L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S547L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.S503L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S538L|ZNF619_ENST00000521353.1_Missense_Mutation_p.S587L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	587					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCAACCCTTCACCTGTCCAA	0.522000													8	52					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35454887	35454887	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:35454887C>G	ENST00000353139.5	-	53	7079	c.6598G>C	c.(6598-6600)Gag>Cag	p.E2200Q	ACACA_ENST00000335166.5_Missense_Mutation_p.E2085Q|ACACA_ENST00000361253.5_Missense_Mutation_p.E289Q|ACACA_ENST00000360679.3_Missense_Mutation_p.E2105Q|ACACA_ENST00000394406.2_Missense_Mutation_p.E2163Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2163					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCAACTCCTTCCGCTCA	0.512000													28	77					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963371	88963371	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:88963371C>T	ENST00000333190.4	+	4	1684	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	359						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGTGTTAATCACCCATGCCA	0.378000										HNSCC(36;0.09)			4	25					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503375	102503375	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:102503375G>A	ENST00000369138.1	+	15	2972	c.2482G>A	c.(2482-2484)Gca>Aca	p.A828T	GRIK2_ENST00000413795.1_Missense_Mutation_p.A828T|GRIK2_ENST00000318991.6_Missense_Mutation_p.A828T|GRIK2_ENST00000369137.3_Missense_Mutation_p.A752T|GRIK2_ENST00000369134.4_Missense_Mutation_p.A779T|GRIK2_ENST00000421544.1_Missense_Mutation_p.A828T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	828					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CATTGTTCTGGCAGCCGGCTT	0.458000													16	59					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129933089	129933089	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:129933089G>A	ENST00000222482.4	+	1	96		c.e1+1		CPA4_ENST00000493259.1_Splice_Site|CPA4_ENST00000445470.2_Splice_Site	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4						histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AATTTTTTGGGTAAGTTCCTT	0.433000													16	51					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680203	47680203	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:47680203G>C	ENST00000283303.2	+	5	669	c.411G>C	c.(409-411)aaG>aaC	p.K137N	GPR115_ENST00000371220.1_Missense_Mutation_p.K194N|GPR115_ENST00000327753.3_Missense_Mutation_p.K137N	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	137					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAATCCGTAAGAACTGCCCCT	0.403000													15	75					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156813228	156813228	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:156813228C>T	ENST00000368195.3	-	16	3283	c.2887G>A	c.(2887-2889)Gcc>Acc	p.A963T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	963					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTATCAGAGGCGCTGAAGTAC	0.537000													93	42					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418666	44418666	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:44418666C>G	ENST00000269973.5	-	10	2012	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E308Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	308					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTCCCACACTCTTCACACTTA	0.463000													5	47					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047172	220047172	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:220047172G>C	ENST00000430297.2	+	9	1589	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	485	Poly-Glu.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGAAGAAGAGGCACTCAC	0.612000													10	31					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133995659	133995659	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:133995659T>A	ENST00000220616.4	+	35	6302		c.e35+2		TG_ENST00000522523.1_Splice_Site|TG_ENST00000377869.1_Splice_Site|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAGAAAGGTAAGTTCATTG	0.403000													22	93					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57638328	57638328	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:57638328C>G	ENST00000332782.2	-	9	999	c.798G>C	c.(796-798)ctG>ctC	p.L266L	STAC3_ENST00000546246.2_Silent_p.L80L|STAC3_ENST00000554578.1_Silent_p.L227L	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	266	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACGGGAAATCCAGATCGTCCT	0.577000													21	157					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982751	30982751	+	Silent	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:30982751A>T	ENST00000262519.8	+	13	3755	c.3069A>T	c.(3067-3069)tcA>tcT	p.S1023S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1023	Ser-rich.				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						ATGCTGACTCAGATGGCGAAA	0.547000													20	69					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186946901	186946901	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:186946901C>G	ENST00000367466.3	+	16	2093	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F587L	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	647	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ACATCAACTTCAGAAAGTACA	0.423000													55	5					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682209	69682209	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:69682209C>G	ENST00000265403.7	+	1	499	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	158					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTGTGGTGAGCTGCTGGCTGA	0.393000													22	73					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673913	4673913	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:4673913C>T	ENST00000396952.5	+	2	807	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACATTGTGCGGACTGAGCA	0.488000													3	24					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430342	36430342	+	Silent	SNP	G	G	T	rs143250868	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:36430342G>T	ENST00000588831.1	+	3	1069	c.15G>T	c.(13-15)ccG>ccT	p.P5P	LRFN3_ENST00000246529.3_Silent_p.P5P			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	5					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCATCCTCCCGTTGCTCCTGT	0.701000													22	18					4.06085e-26	4.55289e-26	1	1	0
RNF17	56163	broad.mit.edu	37	13	25448250	25448250	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:25448250A>G	ENST00000255324.5	+	33	4499		c.e33-1		RNF17_ENST00000339524.3_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTGTCTTTCCAGAAATGCCTT	0.328000													40	42					0	0	1	0	0
FAM219B	57184	broad.mit.edu	37	15	75197510	75197510	+	Missense_Mutation	SNP	G	G	T	rs138405677		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:75197510G>T	ENST00000357635.5	-	3	685	c.365C>A	c.(364-366)tCc>tAc	p.S122Y	FAM219B_ENST00000563119.1_Missense_Mutation_p.S122Y|FAM219B_ENST00000457294.2_Missense_Mutation_p.S122Y|FAM219B_ENST00000565772.1_Missense_Mutation_p.S36Y|FAM219B_ENST00000563706.1_5'UTR	NM_020447.3	NP_065180.1	Q5XKK7	CO017_HUMAN	family with sequence similarity 219, member B	122							cytochrome-c oxidase activity										AGAGTCGAGGGACACCAGGTT	0.527000													16	7					6.31663e-08	6.76593e-08	1	1	0
CHMP4A	29082	broad.mit.edu	37	14	24682657	24682657	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:24682657C>G	ENST00000347519.6	-	1	418	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R	TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000609024.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_5'UTR	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A											NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCGAGCTCGCCTCTCCCGCCT	0.667000													7	11					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239461	31239461	+	Silent	SNP	C	C	G	rs61759940		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:31239461C>G	ENST00000383329.3	-	2	272	c.258G>C	c.(256-258)cgG>cgC	p.R86R	HLA-C_ENST00000376228.5_Silent_p.R86R			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	86	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCTGTGTCTCCCGGTCCCAAT	0.682000													11	36					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	49					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615891	4615891	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:4615891C>G	ENST00000450052.2	+	2	695	c.695C>G	c.(694-696)tCt>tGt	p.S232C	OR52I1_ENST00000530443.2_Missense_Mutation_p.S208C			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGTTCCTCTCTTATGGTG	0.488000													13	38					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785421	37785421	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:37785421C>G	ENST00000314103.5	+	12	1452	c.1301C>G	c.(1300-1302)cCc>cGc	p.P434R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGCACGACTCCCCCTCAGGCC	0.647000													6	22					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44698968	44698968	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:44698968C>G	ENST00000290231.6	-	3	410	c.246G>C	c.(244-246)cgG>cgC	p.R82R		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	82	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCCTCACGTCCCGAACGTCGC	0.527000													18	58					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587753	36587753	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:36587753G>A	ENST00000332987.1	-	7	836	c.414C>T	c.(412-414)atC>atT	p.I138I	APOL4_ENST00000352371.1_Silent_p.I141I|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	142					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CCACATTGGCGATGACGCAGC	0.493000													7	51					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41657461	41657461	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:41657461C>G	ENST00000455915.2	-	5	2073	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.E202Q|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E202Q			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	202					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTAAAAGCTTCTGCCAAGGCA	0.567000													12	42					0	0	1	0	0
DEGS1	8560	broad.mit.edu	37	1	224377888	224377888	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:224377888C>T	ENST00000323699.4	+	2	858	c.692C>T	c.(691-693)gCt>gTt	p.A231V	DEGS1_ENST00000391877.3_Missense_Mutation_p.A231V	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	231					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CATTTTATAGCTGAGCATTAC	0.343000													21	99					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61537421	61537421	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:61537421C>G	ENST00000266070.4	-	6	1731	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	DIDO1_ENST00000395343.1_Missense_Mutation_p.R469T|DIDO1_ENST00000370368.1_Missense_Mutation_p.R469T|DIDO1_ENST00000370366.1_Missense_Mutation_p.R469T|DIDO1_ENST00000266071.5_Missense_Mutation_p.R469T|DIDO1_ENST00000395340.1_Missense_Mutation_p.R469T|DIDO1_ENST00000395335.2_Missense_Mutation_p.R469T|DIDO1_ENST00000370371.4_Missense_Mutation_p.R469T|DIDO1_ENST00000354665.4_Missense_Mutation_p.R469T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	469					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGAGCTGGTCTCTTGTGCAC	0.458000													70	5					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185125831	185125831	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:185125831G>C	ENST00000367506.5	-	1	282	c.14C>G	c.(13-15)gCg>gGg	p.A5G	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	5						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTCCTCCTCCGCCATATTCTC	0.711000													5	15					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94947686	94947686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:94947686G>A	ENST00000222381.3	-	2	325	c.94C>T	c.(94-96)Cga>Tga	p.R32*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	32					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TGTACCTCTCGGAGAGCATTA	0.383000													11	45					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990055	56990055	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:56990055G>A	ENST00000371250.3	-	3	1020	c.469C>T	c.(469-471)Cac>Tac	p.H157Y		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	157					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTCAAGAAGTGAGGACGCAGG	0.512000													15	78					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107780456	107780456	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:107780456G>C	ENST00000369037.4	-	1	311	c.34C>G	c.(34-36)Cgt>Ggt	p.R12G	PDSS2_ENST00000453874.2_Missense_Mutation_p.R12G|PDSS2_ENST00000369031.4_Missense_Mutation_p.R12G	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	12					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CCAAGATAACGTGGCAAGTGC	0.622000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	35					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56574880	56574880	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:56574880G>A	ENST00000394023.3	-	11	1067	c.962C>T	c.(961-963)tCa>tTa	p.S321L	SMARCC2_ENST00000347471.4_Missense_Mutation_p.S321L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S321L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S321L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	321					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTAAGGTGTTGAGGGACTGGG	0.502000													7	48					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36643017	36643017	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:36643017C>T	ENST00000543751.1	+	10	907	c.762C>T	c.(760-762)tgC>tgT	p.C254C	MELK_ENST00000545008.1_Silent_p.C215C|MELK_ENST00000538311.1_Silent_p.C92C|MELK_ENST00000298048.2_Silent_p.C286C|MELK_ENST00000536987.1_Silent_p.C155C|MELK_ENST00000536329.1_Silent_p.C215C|MELK_ENST00000541717.1_Silent_p.C286C|MELK_ENST00000536860.1_Silent_p.C238C	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	286	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.C286C(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			ATGATGATTGCGTAACAGAAC	0.333000													15	30					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34876554	34876554	+	Silent	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:34876554T>G	ENST00000381831.3	-	22	3173	c.2910A>C	c.(2908-2910)gcA>gcC	p.A970A	GART_ENST00000381815.4_Silent_p.A970A|GART_ENST00000543717.1_Silent_p.A522A|GART_ENST00000381839.3_Silent_p.A970A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	970	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGAAAGAGTTGCGACAGTAT	0.423000													10	70					0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225487	51225487	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:51225487C>T	ENST00000602930.1	-	9	1996	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	AGAP8_ENST00000425119.2_Missense_Mutation_p.D499N	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 8	499	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GGCCAGTCATCCAGCTCCAGA	0.542000													101	74					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49209657	49209657	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:49209657G>A	ENST00000327979.2	-	18	2688	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	FAM65C_ENST00000045083.2_Silent_p.I759I|FAM65C_ENST00000535356.1_Silent_p.I763I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	759										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCAGGTAATGATCTGTTCTT	0.597000													20	56					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791056	110791056	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:110791056C>T	ENST00000327908.3	+	4	1366	c.602C>T	c.(601-603)tCa>tTa	p.S201L	LRIT3_ENST00000409621.2_Missense_Mutation_p.S201L|LRIT3_ENST00000379920.3_Missense_Mutation_p.S339L|LRIT3_ENST00000594814.1_Missense_Mutation_p.S384L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	339	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGCGCATCATCATATCTTTGG	0.468000													31	68					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482441	20482441	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:20482441G>A	ENST00000573854.1	+	5	757	c.643G>A	c.(643-645)Gca>Aca	p.A215T	ACSM2A_ENST00000575690.1_Missense_Mutation_p.A215T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A215T|ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A136T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A215T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	215					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAGCCAGGAAGCATCTGCCAT	0.512000													8	28					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36221702	36221702	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:36221702G>C	ENST00000222270.7	+	26	5371	c.5371G>C	c.(5371-5373)Gag>Cag	p.E1791Q	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E1791Q	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GCCGAGGGAAGAGCCAGCTCA	0.612000													3	20					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413839	61413839	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:61413839G>A	ENST00000395348.3	-	5	1581	c.945C>T	c.(943-945)ctC>ctT	p.L315L	SLC16A9_ENST00000395347.1_Silent_p.L315L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	315					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CGATGTCAAAGAGTAAGATAG	0.358000													23	38					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021208	46021208	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:46021208C>G	ENST00000380102.2	+	1	712	c.687C>G	c.(685-687)tgC>tgG	p.C229W	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	229	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTCCCCCTGCCAGCAGGCCT	0.652000													39	139					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56172438	56172438	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:56172438C>T	ENST00000450554.2	+	5	1328	c.369C>T	c.(367-369)ccC>ccT	p.P123P	U2AF2_ENST00000308924.4_Silent_p.P123P	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	123					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTCTTCTCCCCACCATGACCC	0.612000													12	34					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108128143	108128143	+	Silent	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:108128143T>C	ENST00000228437.5	-	12	2709	c.2250A>G	c.(2248-2250)aaA>aaG	p.K750K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	750					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CTTTGCAGGTTTTCAGGTGGC	0.463000													39	175					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464500	247464500	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:247464500T>G	ENST00000294753.4	-	9	1549	c.1085A>C	c.(1084-1086)gAc>gCc	p.D362A	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.D398A	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	362					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGAGTCCTCGTCCCCAGAGCT	0.632000													5	28					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139224	58139224	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:58139224G>A	ENST00000295956.4	+	39	6655	c.6490G>A	c.(6490-6492)Gtg>Atg	p.V2164M	FLNB_ENST00000358537.3_Missense_Mutation_p.V2140M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2153M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1984M|FLNB_ENST00000490882.1_Missense_Mutation_p.V2195M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1971M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.V2123M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2164	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGATGGGCGTGCACACGGT	0.652000													3	28					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480424	140480424	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:140480424C>A	ENST00000231130.2	+	1	191	c.191C>A	c.(190-192)gCc>gAc	p.A64D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		64	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGGGGGGCCCAAGTTGTG	0.507000													22	22					5.35356e-11	5.8237e-11	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53595718	53595718	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:53595718C>T	ENST00000342160.3	-	48	7098	c.6641G>A	c.(6640-6642)cGg>cAg	p.R2214Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2214Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2214					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGAAAAGCCGAATGATGTT	0.517000													4	0					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47800672	47800672	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:47800672A>T	ENST00000591416.1	-	11	1461	c.1030T>A	c.(1030-1032)Tgc>Agc	p.C344S	MBD1_ENST00000588937.1_Missense_Mutation_p.C321S|MBD1_ENST00000590208.1_Missense_Mutation_p.C344S|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.C344S|MBD1_ENST00000585672.1_Missense_Mutation_p.C294S|MBD1_ENST00000269468.5_Missense_Mutation_p.C344S|MBD1_ENST00000591535.1_Missense_Mutation_p.C321S|MBD1_ENST00000457839.2_Missense_Mutation_p.C369S|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.C344S|MBD1_ENST00000353909.3_Missense_Mutation_p.C295S|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000269471.5_Missense_Mutation_p.C321S|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.C369S|MBD1_ENST00000424334.2_Missense_Mutation_p.C395S|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000436910.1_Missense_Mutation_p.C321S|MBD1_ENST00000398493.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	344					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CGCCGTAGGCAGGCTGCACAG	0.647000													18	18					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993509	28993509	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:28993509C>A	ENST00000359747.4	+	15	3160	c.3131C>A	c.(3130-3132)tCt>tAt	p.S1044Y	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S1025Y	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1025					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCCATGACATCTCGACACAGA	0.443000													14	51					7.93312e-07	8.40364e-07	1	1	0
PRICKLE3	4007	broad.mit.edu	37	X	49040353	49040353	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:49040353C>T	ENST00000376317.3	-	3	240	c.146G>A	c.(145-147)tGc>tAc	p.C49Y	PRICKLE3_ENST00000376310.3_Missense_Mutation_p.C49Y|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.C49Y|PRICKLE3_ENST00000536904.1_5'UTR|PRICKLE3_ENST00000540849.1_5'UTR	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	49							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CGGGCATTTGCAATGCTGGCA	0.622000													8	8					0	0	1	0	0
PCBD2	84105	broad.mit.edu	37	5	134296290	134296290	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:134296290C>T	ENST00000512783.1	+	4	332	c.312C>T	c.(310-312)ctC>ctT	p.L104L	PCBD2_ENST00000254908.6_Silent_p.L104L			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	104					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATAACTCTCACCTCACATG	0.368000													19	19					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706055	123706055	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:123706055C>G	ENST00000606320.1	-	5	942	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E94Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E216Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E94Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	94					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TAAAAATTCTCATTTTTCACA	0.398000													69	40					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079731	90079731	+	Silent	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:90079731A>C	ENST00000405460.2	+	67	13606	c.13510A>C	c.(13510-13512)Aga>Cga	p.R4504R	GPR98_ENST00000425867.2_Silent_p.R165R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4504					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTAGTGAGCAGAATCATAAT	0.428000													8	5					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569274	11569274	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:11569274T>A	ENST00000359227.3	-	4	910	c.486A>T	c.(484-486)acA>acT	p.T162T	ELAVL3_ENST00000438662.2_Splice_Site_p.T162T	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	162	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTGCCTGACCTGTGACCTGGT	0.632000													13	36					0	0	1	0	0
DEC1	50514	broad.mit.edu	37	9	118163570	118163570	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:118163570C>G	ENST00000374016.1	+	7	705	c.186C>G	c.(184-186)ccC>ccG	p.P62P		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	62					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						TTGCCAGGCCCAAGGCTGCAG	0.418000													5	29					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208437	53208437	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:53208437C>G	ENST00000543227.1	-	6	2145	c.1871G>C	c.(1870-1872)tGt>tCt	p.C624S	ZNF611_ENST00000540744.1_Missense_Mutation_p.C624S|ZNF611_ENST00000319783.1_Missense_Mutation_p.C624S|ZNF611_ENST00000595798.1_Missense_Mutation_p.C555S|ZNF611_ENST00000602162.1_Missense_Mutation_p.C555S|ZNF611_ENST00000453741.2_Missense_Mutation_p.C555S	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACACTCATTACACTTGTAAGG	0.423000													4	151					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080494	29080494	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:29080494T>A	ENST00000377169.1	+	1	827	c.827T>A	c.(826-828)tTc>tAc	p.F276Y		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGGCAAGTTCATTGCCCTC	0.443000													28	43					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663738	53663738	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:53663738G>A	ENST00000257934.4	+	3	1103	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E338K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	338					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCATTGTATGAGAGCTGCCA	0.542000													25	38					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170442	104170442	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:104170442G>C	ENST00000374861.3	+	3	634	c.350G>C	c.(349-351)aGa>aCa	p.R117T	ZNF189_ENST00000259395.4_Missense_Mutation_p.R89T|ZNF189_ENST00000339664.2_Missense_Mutation_p.R131T	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	131					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAATGTTCAGAGAAAACACT	0.388000													11	8					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55254622	55254622	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:55254622C>T	ENST00000337526.6	-	3	857		c.e3-1		RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Splice_Site|RTN4_ENST00000394611.2_Splice_Site|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Splice_Site|RTN4_ENST00000404909.1_Splice_Site|RTN4_ENST00000354474.6_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4						apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCCATATTTTCTGTGACCATG	0.418000													18	9					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748297	151748297	+	Splice_Site	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:151748297T>G	ENST00000368822.1	-	9	1914	c.1281A>C	c.(1279-1281)tcA>tcC	p.S427S	TDRKH_ENST00000368824.3_Splice_Site_p.S427S|TDRKH_ENST00000458431.2_Splice_Site_p.S427S|TDRKH_ENST00000440583.2_Splice_Site_p.S203S|TDRKH_ENST00000368823.1_Splice_Site_p.S423S|TDRKH_ENST00000368827.6_Splice_Site_p.S427S|TDRKH_ENST00000368825.3_Splice_Site_p.S382S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	427							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAATTTACCTGAGGGAGCAA	0.403000													40	234					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288236	74288236	+	Nonsense_Mutation	SNP	G	G	A	rs140261388	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:74288236G>A	ENST00000262765.5	-	4	2253	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	692	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						aaaccacgctgatctgcacca	0.552000													24	79					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123917099	123917099	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:123917099G>A	ENST00000373855.1	+	27	4533	c.4273G>A	c.(4273-4275)Gag>Aag	p.E1425K	CNTRL_ENST00000238341.5_Missense_Mutation_p.E1425K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373847.1_Missense_Mutation_p.E873K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E873K			Q7Z7A1	CNTRL_HUMAN	centriolin	1425					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAGTGCATTGAGAAGACTCT	0.408000													5	33					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115057172	115057172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:115057172G>T	ENST00000375299.3	+	7	807	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	UPF3A_ENST00000351487.5_Nonsense_Mutation_p.E218*|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	251					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)		acgtttgcgggaagaggaaaa	0.383000													84	47					4.8811e-34	5.51277e-34	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77759261	77759261	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:77759261C>T	ENST00000407578.2	-	32	4962	c.4696G>A	c.(4696-4698)Gat>Aat	p.D1566N	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1528N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1528N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCAGCAGATCACAAAGGCAA	0.363000													4	32					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90697844	90697844	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:90697844G>C	ENST00000458208.1	-	8	1438	c.964C>G	c.(964-966)Cta>Gta	p.L322V	STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.L322V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	322					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CTGGGTGCTAGGGCCGTGATC	0.517000													12	45					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36117011	36117011	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:36117011C>A	ENST00000377966.3	+	17	2656	c.2090C>A	c.(2089-2091)aCg>aAg	p.T697K		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	697						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTCTGCCTGACGACTTTTGAT	0.502000													13	59					2.23348e-06	2.34975e-06	1	1	0
MCHR1	2847	broad.mit.edu	37	22	41077836	41077836	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:41077836G>C	ENST00000249016.4	+	2	1869	c.1173G>C	c.(1171-1173)ttG>ttC	p.L391F	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.L265F	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	391					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCAAACGCTTGGTCCTGTCGG	0.562000													24	58					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11078795	11078795	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:11078795G>A	ENST00000240185.3	+	4	522	c.408G>A	c.(406-408)aaG>aaA	p.K136K	TARDBP_ENST00000439080.2_Silent_p.K20K|TARDBP_ENST00000315091.3_Silent_p.K136K	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	136	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TCTAGGTCAAGAAAGATCTTA	0.363000													61	29					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160668	157160668	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:157160668G>A	ENST00000295927.3	+	3	1191	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	349	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GAAGAGATAAGAGAGACCGGA	0.493000													43	12					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13393427	13393427	+	Silent	SNP	G	G	C	rs147811711		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:13393427G>C	ENST00000254508.5	-	20	2869	c.2787C>G	c.(2785-2787)acC>acG	p.T929T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	929					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAACATCTGCGGTGCTGGTGT	0.602000													27	4					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101020669	101020669	+	Silent	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:101020669A>G	ENST00000360863.6	-	15	2489	c.2295T>C	c.(2293-2295)taT>taC	p.Y765Y	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Silent_p.Y753Y|RGS22_ENST00000523287.1_Silent_p.Y584Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	765					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGAGAAGGATATATTCCTCTG	0.393000													59	71					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71707249	71707249	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:71707249G>A	ENST00000361756.3	+	9	1233	c.872G>A	c.(871-873)aGg>aAg	p.R291K	RNF121_ENST00000530137.1_Missense_Mutation_p.R259K|RNF121_ENST00000533380.1_Missense_Mutation_p.R131K|RNF121_ENST00000545854.1_Missense_Mutation_p.R210K|RNF121_ENST00000393713.3_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	291						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCTGGGAGAGGCCTCACGTC	0.542000													7	32					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179476	3179476	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:3179476T>C	ENST00000246115.3	+	1	741	c.686T>C	c.(685-687)cTg>cCg	p.L229P	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	229					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ATCTTCCGCCTGGTGCAGGCC	0.672000													39	43					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18061060	18061060	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:18061060G>C	ENST00000205890.5	+	51	9151	c.8813G>C	c.(8812-8814)gGg>gCg	p.G2938A	MYO15A_ENST00000418233.3_Missense_Mutation_p.G202A	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2938	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCATCCACGGGCGCGTGGGC	0.657000													9	10					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005562	20005562	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:20005562C>G	ENST00000289753.1	+	3	1491	c.1024C>G	c.(1024-1026)Cgg>Ggg	p.R342G		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	342					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	ACGCTGTCCCCGGGAGCGCCA	0.672000													4	16					0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51461711	51461711	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:51461711G>C	ENST00000228515.1	-	4	750	c.453C>G	c.(451-453)ggC>ggG	p.G151G		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	151					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CCAGCGTCAGGCCATCAGCCT	0.537000													14	41					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437391	138437391	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:138437391C>A	ENST00000310018.2	-	11	1290	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.K336N|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.K336N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	336					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGTGCCCTCTTGATACGTG	0.602000													3	17					0.150653	0.151442	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2202735	2202735	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:2202735G>T	ENST00000398665.3	+	9	780	c.744G>T	c.(742-744)gaG>gaT	p.E248D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	248						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TTGGTCCTGAGGTGGATCACC	0.537000													21	26					1.10923e-09	1.19647e-09	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49775950	49775950	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:49775950A>G	ENST00000492622.2	+	24	3307	c.3002A>G	c.(3001-3003)tAc>tGc	p.Y1001C	FNDC3A_ENST00000541916.1_Missense_Mutation_p.Y1001C|FNDC3A_ENST00000398316.3_Missense_Mutation_p.Y945C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1001	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTATCCCTATACAGAGGACCA	0.328000													56	1					0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104248819	104248819	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:104248819C>T	ENST00000369905.4	-	3	253		c.e3+1		ACTR1A_ENST00000446605.2_Splice_Site|ACTR1A_ENST00000487599.1_Splice_Site|ACTR1A_ENST00000545684.1_Intron	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)						G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CTGGGAATTACCTCAGCTTTG	0.502000													5	126					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105797526	105797526	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:105797526C>T	ENST00000393127.2	+	13	2353	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	GRIA4_ENST00000530497.1_Missense_Mutation_p.S636L|GRIA4_ENST00000282499.5_Missense_Mutation_p.S636L|GRIA4_ENST00000525187.1_Missense_Mutation_p.S636L	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	636					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S636L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATCATTATATCATCTTATACT	0.408000													30	61					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53213615	53213615	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:53213615G>A	ENST00000394729.2	+	3	466	c.138G>A	c.(136-138)caG>caA	p.Q46Q	PRKCD_ENST00000330452.3_Silent_p.Q46Q	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	46	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CACTGGTGCAGAAGAAGCCGA	0.597000													53	5					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90318018	90318018	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:90318018C>G	ENST00000469640.2	+	26	3396	c.3021C>G	c.(3019-3021)ccC>ccG	p.P1007P	DAPK1_ENST00000491893.1_Silent_p.P916P|DAPK1_ENST00000472284.1_Silent_p.P982P|DAPK1_ENST00000408954.3_Silent_p.P982P|DAPK1_ENST00000358077.5_Silent_p.P982P			P53355	DAPK1_HUMAN	death-associated protein kinase 1	982			D -> Y.		apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCAATGGACCCAACCAGCTGA	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of				11	26					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185644425	185644425	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:185644425C>T	ENST00000453386.2	-	2	409	c.134G>A	c.(133-135)cGt>cAt	p.R45H	TRA2B_ENST00000382191.4_Intron	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	45	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGATCTGGAACGCCTGGAATC	0.488000													9	50					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127110016	127110016	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:127110016G>T	ENST00000373600.3	+	10	1063	c.848G>T	c.(847-849)gGa>gTa	p.G283V	NEK6_ENST00000546191.1_Missense_Mutation_p.G249V|NEK6_ENST00000320246.5_Missense_Mutation_p.G249V|NEK6_ENST00000539416.1_Missense_Mutation_p.G274V|NEK6_ENST00000373603.1_Missense_Mutation_p.G249V|NEK6_ENST00000394199.2_Missense_Mutation_p.G283V|NEK6_ENST00000545174.1_Missense_Mutation_p.G249V|NEK6_ENST00000540326.1_Missense_Mutation_p.G267V	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	249	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCCTTCTATGGAGATAAGATG	0.562000													91	45					1.53058e-52	1.73631e-52	1	1	0
P2RX2	22953	broad.mit.edu	37	12	133196438	133196438	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:133196438G>C	ENST00000389110.3	+	4	427	c.390G>C	c.(388-390)agG>agC	p.R130S	P2RX2_ENST00000449132.2_Missense_Mutation_p.R106S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R130S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R130S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R38S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R106S|P2RX2_ENST00000352418.4_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	130					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGAGCATAAGGGTCCACAACG	0.716000													4	12					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132565492	132565492	+	Translation_Start_Site	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:132565492A>G	ENST00000259339.2	+	1	61	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	1					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GAGGAGCGGGATGTTGCGGGC	0.741000													11	4					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43828720	43828720	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:43828720G>C	ENST00000372462.1	+	10	1623	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	CDC20_ENST00000310955.6_Missense_Mutation_p.E474Q			Q12834	CDC20_HUMAN	cell division cycle 20	474					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGCTGTTTTGAGTTGGACCC	0.622000													15	46					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381034	62381034	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:62381034C>G	ENST00000278833.3	+	1	822	c.281C>G	c.(280-282)cCt>cGt	p.P94R	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	94					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCTCTATACCCTCCCTGGCGA	0.716000													10	1					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197339	132197339	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:132197339C>A	ENST00000378673.2	-	3	2173	c.1307G>T	c.(1306-1308)gGc>gTc	p.G436V	GDF9_ENST00000296875.2_Missense_Mutation_p.G436V			O60383	GDF9_HUMAN	growth differentiation factor 9	436					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCAATTGAGCCATCGGGCTC	0.443000													16	60					3.52763e-06	3.69607e-06	1	1	0
PARD3	56288	broad.mit.edu	37	10	34985320	34985320	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:34985320G>A	ENST00000374789.3	-	2	473	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	PARD3_ENST00000374776.1_Missense_Mutation_p.R50C|PARD3_ENST00000545693.1_Missense_Mutation_p.R50C|PARD3_ENST00000374773.1_Missense_Mutation_p.R50C|PARD3_ENST00000350537.4_Missense_Mutation_p.R50C|PARD3_ENST00000545260.1_Missense_Mutation_p.R50C|PARD3_ENST00000374790.3_Missense_Mutation_p.R50C|PARD3_ENST00000374788.3_Missense_Mutation_p.R50C|PARD3_ENST00000340077.5_Missense_Mutation_p.R50C|PARD3_ENST00000346874.4_Missense_Mutation_p.R50C|PARD3_ENST00000374794.3_Missense_Mutation_p.R50C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	50					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R50G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTTCCAAGCGATGCACCTGT	0.418000													60	58					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363772	72363772	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:72363772A>T	ENST00000335666.4	+	1	176	c.128A>T	c.(127-129)cAg>cTg	p.Q43L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	43						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCCCATGCACAGAAAAGCCAG	0.537000													13	27					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142259805	142259805	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:142259805C>A	ENST00000350721.4	-	18	3643	c.3522G>T	c.(3520-3522)atG>atT	p.M1174I	ATR_ENST00000383101.3_Missense_Mutation_p.M1110I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1174					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGTGGTCATCATCTTCACCC	0.383000								Other conserved DNA damage response genes					14	48					7.93312e-07	8.40364e-07	1	1	0
MRPS18B	28973	broad.mit.edu	37	6	30590659	30590659	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:30590659C>G	ENST00000259873.4	+	5	562	c.405C>G	c.(403-405)ttC>ttG	p.F135L	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Intron	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	135					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTATCATCTTCTATGCTCCAT	0.493000													22	30					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55812927	55812927	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:55812927G>C	ENST00000309383.1	+	8	1003	c.726G>C	c.(724-726)aaG>aaC	p.K242N	BRSK1_ENST00000585418.1_Missense_Mutation_p.K242N|BRSK1_ENST00000590333.1_Missense_Mutation_p.K258N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	242	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGCTGGAGAAGGTGAAACGGG	0.562000													11	3					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979070	979070	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:979070A>G	ENST00000379370.2	+	9	1806	c.1756A>G	c.(1756-1758)Aca>Gca	p.T586A		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	586	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCACGCCTGCACACACCAGAT	0.697000													15	38					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66191219	66191219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:66191219C>A	ENST00000409699.2	-	22	2993	c.2821G>T	c.(2821-2823)Gaa>Taa	p.E941*	MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.E941*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.E866*|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.E866*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	941						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAAGGGTTTTCACTGCTATTC	0.453000													19	23					8.34094e-07	8.82347e-07	1	1	0
HECW2	57520	broad.mit.edu	37	2	197171300	197171300	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:197171300G>A	ENST00000260983.3	-	13	2908	c.2726C>T	c.(2725-2727)tCc>tTc	p.S909F	HECW2_ENST00000409111.1_Missense_Mutation_p.S553F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTGGATCTGGAGGTAGAGTG	0.512000													11	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417760	179417760	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:179417760G>C	ENST00000589042.1	-	335	90091	c.89867C>G	c.(89866-89868)cCt>cGt	p.P29956R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21016R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27388R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P20891R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21083R|TTN_ENST00000591111.1_Missense_Mutation_p.P28315R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28315	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGAGAGGAGGATCCCAGAG	0.438000													24	3					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139302367	139302367	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:139302367C>T	ENST00000298537.7	-	3	455	c.244G>A	c.(244-246)Gag>Aag	p.E82K	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E32K|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.E105K	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	105						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GGATTTGCCTCTTCCAGATCT	0.428000													13	51					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32945230	32945230	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:32945230G>C	ENST00000395289.2	+	8	2813	c.1212G>C	c.(1210-1212)gaG>gaC	p.E404D	BRD2_ENST00000395287.1_Missense_Mutation_p.E404D|BRD2_ENST00000374831.4_Missense_Mutation_p.E404D|BRD2_ENST00000443797.2_Missense_Mutation_p.E284D|BRD2_ENST00000374825.4_Missense_Mutation_p.E404D|BRD2_ENST00000449085.2_Missense_Mutation_p.E357D			P25440	BRD2_HUMAN	bromodomain containing 2	404	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGAAGATGGAGAACCGTGATT	0.527000													33	82					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32943902	32943902	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:32943902T>G	ENST00000395289.2	+	5	2167	c.566T>G	c.(565-567)gTg>gGg	p.V189G	BRD2_ENST00000395287.1_Missense_Mutation_p.V189G|BRD2_ENST00000374831.4_Missense_Mutation_p.V189G|BRD2_ENST00000443797.2_Missense_Mutation_p.V69G|BRD2_ENST00000374825.4_Missense_Mutation_p.V189G|BRD2_ENST00000449085.2_Missense_Mutation_p.V142G			P25440	BRD2_HUMAN	bromodomain containing 2	189					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GAGCTGGTAGTGACCATCCCT	0.453000													17	24					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70316733	70316733	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:70316733G>A	ENST00000374259.3	+	1	687	c.355G>A	c.(355-357)Gag>Aag	p.E119K	FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Missense_Mutation_p.E64K	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	119					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AAGCGCCCCGGAGAAGCGACT	0.572000													6	0					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590653	86590653	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:86590653C>A	ENST00000370571.2	-	3	1732	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D456Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	456					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAAGTAGCATCAGGATAAAAT	0.348000													17	43					3.32936e-07	3.54148e-07	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871036	51871036	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:51871036C>G	ENST00000371497.5	+	2	1926	c.1039C>G	c.(1039-1041)Cag>Gag	p.Q347E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q344E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q344E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	347					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTTTTCTTCTCAGAAGAACGC	0.498000													19	71					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55980420	55980420	+	Missense_Mutation	SNP	T	T	A	rs78036574		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:55980420T>A	ENST00000263923.4	-	6	966	c.671A>T	c.(670-672)tAt>tTt	p.Y224F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	224	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AACCACATCATAAATCCTATA	0.348000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			18	43					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219487481	219487481	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:219487481G>A	ENST00000450993.2	+	6	991	c.652G>A	c.(652-654)Gat>Aat	p.D218N	PLCD4_ENST00000417849.1_Missense_Mutation_p.D218N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D218N	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	218	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTTTTCAGCTGATGGGCAGAA	0.483000													51	7					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160219	157160219	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:157160219G>A	ENST00000295927.3	+	3	742	c.597G>A	c.(595-597)gtG>gtA	p.V199V	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	199	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCATCCAGTGAGACCAATGA	0.388000													72	24					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167709717	167709717	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:167709717C>T	ENST00000230256.3	+	3	642	c.467C>T	c.(466-468)tCa>tTa	p.S156L	UNC93A_ENST00000366829.2_Missense_Mutation_p.S156L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	156						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACTTGATCTCATCGCTGGTA	0.517000													16	42					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93622010	93622010	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:93622010G>A	ENST00000370282.3	-	3	803	c.318C>T	c.(316-318)ttC>ttT	p.F106F	TMED5_ENST00000479918.1_Silent_p.F106F|TMED5_ENST00000370280.1_Silent_p.F106F|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	106	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TGTCAAAGCAGAACATGTAAT	0.333000													7	34					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174224026	174224026	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:174224026T>C	ENST00000306721.3	+	3	294	c.191T>C	c.(190-192)gTt>gCt	p.V64A	CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Intron|CDCA7_ENST00000347703.3_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	0					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTGGCAAATGTTTTTTATGAG	0.338000													44	2					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113759133	113759133	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:113759133C>G	ENST00000552014.1	-	4	692	c.177G>C	c.(175-177)ctG>ctC	p.L59L	SLC8B1_ENST00000546737.1_Silent_p.L59L|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Silent_p.L59L					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	59																	CAGAGACATTCAGGCCACACA	0.572000													42	77					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190535	38190535	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:38190535C>G	ENST00000355202.4	-	5	1092	c.497G>C	c.(496-498)cGt>cCt	p.R166P	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R165P	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGGTTTCTCACGAGCATTAAT	0.383000													13	44					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847127	79847127	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:79847127C>G	ENST00000331204.4	-	3	474	c.448G>C	c.(448-450)Gac>Cac	p.D150H	ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.D157H	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	150	Ala/Arg/Gly-rich.|RRM.			D -> N (in Ref. 5; AAD09608).	intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										AAGTGCACGTCTGCTGTTCCT	0.562000													19	66					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102403	66102403	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:66102403C>T	ENST00000311320.4	-	6	993	c.867G>A	c.(865-867)agG>agA	p.R289R	RIN1_ENST00000424433.2_Silent_p.R184R|RIN1_ENST00000530056.1_Silent_p.R184R|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	289					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CTGAGCTCTCCCTCCGTAGCA	0.711000													7	5					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27215722	27215722	+	Silent	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:27215722C>A	ENST00000230582.3	+	2	147	c.132C>A	c.(130-132)ggC>ggA	p.G44G	PRSS16_ENST00000421826.2_Silent_p.G44G	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	44					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTGCCCAGGGCCTGGGCCTGA	0.637000													20	28					2.4624e-09	2.64863e-09	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12853451	12853451	+	Silent	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:12853451C>A	ENST00000332296.7	+	2	178	c.75C>A	c.(73-75)atC>atA	p.I25I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	25										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGTCCATCTCTGCCATGG	0.577000													48	37					4.25531e-23	4.75703e-23	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930501	46930501	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:46930501G>A	ENST00000264318.3	-	9	2388	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L		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	469					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	p.S469L(1)		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)	AGATCCAACTGAAGCCTTTCG	0.468000													12	42					0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83411378	83411378	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:83411378T>C	ENST00000515780.2	-	7	581	c.377A>G	c.(376-378)gAa>gGa	p.E126G	TMEM150C_ENST00000449862.2_Missense_Mutation_p.E126G|TMEM150C_ENST00000508701.1_3'UTR			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						ATGGATTTCTTCATCATTTGT	0.438000													24	87					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34997059	34997059	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:34997059G>T	ENST00000541010.1	+	3	3862	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	DNAJB5_ENST00000454002.2_Missense_Mutation_p.D356Y|DNAJB5_ENST00000312316.5_Missense_Mutation_p.D284Y|DNAJB5_ENST00000453597.3_Missense_Mutation_p.D398Y|DNAJB5_ENST00000335998.3_Missense_Mutation_p.D318Y|DNAJB5_ENST00000545841.1_Missense_Mutation_p.D284Y			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	284					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCCCACTATCGACGGCCGAGT	0.552000													25	107					1.2476e-16	1.38262e-16	1	1	0
PIBF1	10464	broad.mit.edu	37	13	73482708	73482708	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:73482708G>C	ENST00000326291.6	+	12	1866	c.1528G>C	c.(1528-1530)Gaa>Caa	p.E510Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	510						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCCTCTTCTGAAAAACGCAT	0.348000													9	52					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372900	24372900	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:24372900G>T	ENST00000005284.3	+	4	1866	c.664G>T	c.(664-666)Gcc>Tcc	p.A222S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	222					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCTACTTTTGCCCGCCTCCC	0.532000													16	14					6.31663e-08	6.76593e-08	1	1	0
OR7C2	26658	broad.mit.edu	37	19	15053168	15053168	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:15053168A>C	ENST00000248072.3	+	1	868	c.868A>C	c.(868-870)Agc>Cgc	p.S290R		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTTCATCTACAGCCTGAGGAA	0.532000													19	37					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95719193	95719193	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:95719193C>T	ENST00000309988.4	+	4	564	c.455C>T	c.(454-456)tCt>tTt	p.S152F	MAL_ENST00000349807.3_Missense_Mutation_p.S54F|MAL_ENST00000353004.3_Missense_Mutation_p.S110F|MAL_ENST00000354078.3_Missense_Mutation_p.S96F	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	152					apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		AGATGGAAGTCTTCATAAAGC	0.463000													12	62					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27807432	27807432	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:27807432A>G	ENST00000261716.3	+	7	1015	c.496A>G	c.(496-498)Aaa>Gaa	p.K166E	TAOK1_ENST00000536202.1_Missense_Mutation_p.K166E	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	166	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGGCCAGGTGAAACTTGCTGA	0.413000													13	15					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27203430	27203430	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:27203430C>G	ENST00000343483.6	-	2	683	c.611G>C	c.(610-612)cGc>cCc	p.R204P	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R44P	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	204							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CCGAGTGGAGCGCGCATGAAG	0.552000			T	"""NUP98, MSI2"""	AML*								7	69					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192127869	192127869	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:192127869C>G	ENST00000367460.3	+	1	283	c.102C>G	c.(100-102)agC>agG	p.S34R	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	34					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAAACAAGCAAAGAAGCCA	0.284000													12	46					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123917005	123917005	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:123917005C>T	ENST00000373855.1	+	27	4439	c.4179C>T	c.(4177-4179)ttC>ttT	p.F1393F	CNTRL_ENST00000238341.5_Silent_p.F1393F|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373847.1_Silent_p.F841F|CNTRL_ENST00000373850.1_Silent_p.F841F			Q7Z7A1	CNTRL_HUMAN	centriolin	1393					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TTAGGGACTTCATTGATGGAA	0.289000													4	18					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23239812	23239812	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:23239812T>A	ENST00000258742.5	+	7	979	c.720T>A	c.(718-720)agT>agA	p.S240R		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	240	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGCAGCAGTGATAATGCTC	0.398000													4	40					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355736	118355736	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:118355736G>C	ENST00000528052.1	+	6	547	c.476G>C	c.(475-477)aGc>aCc	p.S159T	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S159T|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S159T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	159					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACAGAGTATAGCTACCCCCCT	0.493000													19	85					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	15994390	15994390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:15994390C>A	ENST00000352083.6	-	16	2529	c.2452G>T	c.(2452-2454)Gaa>Taa	p.E818*	SOX6_ENST00000528252.1_Nonsense_Mutation_p.E791*|SOX6_ENST00000528429.1_Nonsense_Mutation_p.E818*|SOX6_ENST00000316399.6_Nonsense_Mutation_p.E798*|SOX6_ENST00000396356.3_Nonsense_Mutation_p.E798*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.E794*			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	818					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCTTCATTTTCACTGCTATAG	0.433000													14	25					3.32936e-07	3.54148e-07	1	1	0
TMTC3	160418	broad.mit.edu	37	12	88568405	88568405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:88568405G>A	ENST00000266712.6	+	9	1441	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	407						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGCTATCCTGGATTTGTCTGT	0.333000													34	43					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131747191	131747191	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:131747191G>A	ENST00000372577.2	+	20	1995	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	658					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CGGAAGGGATGAATGCTGGAG	0.433000											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	40					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160104276	160104276	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:160104276G>A	ENST00000361216.3	+	14	1919	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	ATP1A2_ENST00000392233.3_Silent_p.V610V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	610					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCCACTAGGTGATCATGGTAA	0.507000													9	25					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791805	110791805	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:110791805C>T	ENST00000327908.3	+	4	2115	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	LRIT3_ENST00000409621.2_Missense_Mutation_p.P451S|LRIT3_ENST00000379920.3_Missense_Mutation_p.P589S|LRIT3_ENST00000594814.1_Missense_Mutation_p.P634S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	589	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GACCCTGTTTCCCAGGTCTCA	0.428000													13	30					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45815176	45815176	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:45815176G>C	ENST00000221476.3	-	5	658	c.484C>G	c.(484-486)Ctc>Gtc	p.L162V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	162	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	AGGCTGTTGAGAGCTATGGGG	0.597000													5	14					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71146132	71146132	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:71146132C>G	ENST00000448642.2	+	18	2387	c.1998C>G	c.(1996-1998)caC>caG	p.H666Q	HK1_ENST00000298649.3_Missense_Mutation_p.H630Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.H619Q|HK1_ENST00000359426.6_Missense_Mutation_p.H631Q|HK1_ENST00000404387.2_Missense_Mutation_p.H635Q			P19367	HXK1_HUMAN	hexokinase 1	631	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCGTGGGCCACGATGTAGTCA	0.393000													9	50					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56354382	56354382	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:56354382A>G	ENST00000370754.5	-	86	20689	c.20690T>C	c.(20689-20691)aTg>aCg	p.M6897T	DST_ENST00000421834.2_Missense_Mutation_p.M4631T|DST_ENST00000361203.3_Missense_Mutation_p.M6608T|DST_ENST00000370788.2_Missense_Mutation_p.M4522T|DST_ENST00000446842.2_Missense_Mutation_p.M6393T|DST_ENST00000244364.6_Missense_Mutation_p.M4305T|DST_ENST00000370769.4_Missense_Mutation_p.M6719T|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6717					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)			TAGCCACTCCATAAGTTTACT	0.358000													63	83					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590558	86590558	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:86590558C>G	ENST00000370571.2	-	3	1827	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	COL24A1_ENST00000436319.1_Silent_p.L487L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	487	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGGCCCTCTCAGATACTCCA	0.313000													9	45					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163992	47163992	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:47163992T>C	ENST00000409792.3	-	3	2176	c.2134A>G	c.(2134-2136)Aaa>Gaa	p.K712E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGCATGCTTTGACCAAAGGG	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								28	70					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66492458	66492458	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:66492458G>C	ENST00000256447.4	-	1	169	c.12C>G	c.(10-12)gaC>gaG	p.D4E		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	4					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGCAGCTGACGTCAAACGCCA	0.493000													52	57					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792399	87792399	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:87792399A>C	ENST00000398204.4	+	23	2303	c.1980A>C	c.(1978-1980)caA>caC	p.Q660H	ADAM22_ENST00000398201.4_Missense_Mutation_p.Q660H|ADAM22_ENST00000315984.7_Missense_Mutation_p.Q660H|ADAM22_ENST00000398209.3_Missense_Mutation_p.Q660H|ADAM22_ENST00000265727.7_Missense_Mutation_p.Q660H	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	660	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGTCCCCAAATGATGTGCT	0.413000													8	73					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305564	136305564	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:136305564G>C	ENST00000371929.3	+	16	2330	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R598T|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R629T|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R301T|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	629	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCGAGTACAGAGTGGCCCTC	0.642000													17	7					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74719908	74719908	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:74719908C>G	ENST00000445478.2	-	3	954	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	JMJD6_ENST00000585429.1_Missense_Mutation_p.E251Q|JMJD6_ENST00000397625.4_Missense_Mutation_p.E251Q	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	251	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GGTTTGAATTCAGGTGGCCAG	0.478000													16	126					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22262572	22262572	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:22262572G>C	ENST00000263026.5	+	6	1021	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	183	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGTGTACTTTGAGGACGTGCG	0.602000													15	29					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097531	123097531	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:123097531G>C	ENST00000466202.1	-	12	2673	c.2097C>G	c.(2095-2097)gtC>gtG	p.V699V	IQUB_ENST00000324698.6_Silent_p.V699V|RP11-332K15.1_ENST00000419832.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	699										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATTCCATCTGACCATGACCA	0.473000													40	22					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197442	44197442	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:44197442C>T	ENST00000393841.1	+	5	719	c.228C>T	c.(226-228)ctC>ctT	p.L76L	SLC29A1_ENST00000371708.1_Silent_p.L76L|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Silent_p.L76L|SLC29A1_ENST00000371724.1_Silent_p.L76L|SLC29A1_ENST00000371755.3_Silent_p.L76L|SLC29A1_ENST00000427851.2_Silent_p.L76L|SLC29A1_ENST00000371713.1_Silent_p.L76L|SLC29A1_ENST00000371731.1_Silent_p.L76L|SLC29A1_ENST00000313248.7_Silent_p.L155L|SLC29A1_ENST00000371740.5_Silent_p.L76L	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	76					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GGAACTCTCTCAGTGCCATCT	0.572000													21	43					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641266	156641266	+	Missense_Mutation	SNP	G	G	C	rs149421282		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:156641266G>C	ENST00000368223.3	-	4	2846	c.2714C>G	c.(2713-2715)tCt>tGt	p.S905C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	905	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCTCTGGAGATCTCAAATT	0.488000													13	55					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201105	8201105	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:8201105G>A	ENST00000600128.1	-	12	1848	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	FBN3_ENST00000601739.1_Silent_p.F478F|FBN3_ENST00000270509.2_Silent_p.F478F			Q75N90	FBN3_HUMAN	fibrillin 3	478	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCGTGGCCTGGAAGCCCGGGT	0.647000													13	31					0	0	1	0	0
CHCHD10	400916	broad.mit.edu	37	22	24108345	24108345	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:24108345C>G	ENST00000484558.2	-	3	947	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CHCHD10_ENST00000401675.3_Missense_Mutation_p.E134Q|CHCHD10_ENST00000520222.1_Silent_p.A53A			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	127	CHCH.					mitochondrion				large_intestine(2)|lung(1)	3						TTCAGGGCCTCGCTGAAGCCC	0.637000													3	17					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27602985	27602985	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:27602985G>A	ENST00000323703.6	-	2	384	c.186C>T	c.(184-186)ctC>ctT	p.L62L	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	62	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAAGCCCATGAGCTGGTCAC	0.577000													139	11					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85473828	85473828	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:85473828C>T	ENST00000369663.5	-	1	409	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	24					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CGCCGATCAGCGCCTCCACCG	0.716000													5	4					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35563067	35563067	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:35563067G>C	ENST00000373330.1	+	5	493	c.319G>C	c.(319-321)Gga>Cga	p.G107R	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G107R			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	107						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGAAAGGATCTGCTCA	0.408000													28	85					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176513	104176513	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:104176513C>T	ENST00000020673.5	-	2	809	c.283G>A	c.(283-285)Ggg>Agg	p.G95R	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.G95R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	95	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTCTGGGCCCCGGGTGGGGGC	0.657000													9	41					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107148121	107148121	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:107148121C>A	ENST00000245323.4	-	3	623	c.474G>T	c.(472-474)atG>atT	p.M158I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	158					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TGAGGATCTTCATGGCTCTTG	0.468000													28	119					1.80694e-10	1.95455e-10	1	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116059052	116059052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:116059052G>A	ENST00000369271.3	-	16	2380	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R694W|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R747W	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	694					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TTTAGCTCCCGTTTCTCTTTC	0.562000													10	47					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305505	136305505	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:136305505G>A	ENST00000371929.3	+	16	2271	c.1827G>A	c.(1825-1827)atG>atA	p.M609I	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M578I|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M609I|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.M281I|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	609	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGGGAAGATGAGCATCTCCC	0.642000													28	7					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50545856	50545856	+	Missense_Mutation	SNP	G	G	T	rs142761358		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:50545856G>T	ENST00000267845.3	-	7	1130	c.728C>A	c.(727-729)gCa>gAa	p.A243E	HDC_ENST00000543581.1_Missense_Mutation_p.A243E	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	243					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCCTAGTGTTGCACAGACCTA	0.507000													8	21					3.09899e-07	3.30558e-07	1	1	0
KCMF1	56888	broad.mit.edu	37	2	85276691	85276691	+	Silent	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:85276691A>G	ENST00000409785.4	+	6	1163	c.804A>G	c.(802-804)acA>acG	p.T268T		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(3)	3						CTACAATCACACAATCCACAG	0.478000													25	1					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642000													5	206					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8415171	8415171	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:8415171C>T	ENST00000337907.3	-	24	5311	c.4677G>A	c.(4675-4677)aaG>aaA	p.K1559K	RERE_ENST00000476556.1_Silent_p.K1005K|RERE_ENST00000400907.2_Silent_p.K577K|RERE_ENST00000400908.2_Silent_p.K1559K|RERE_ENST00000377464.1_Silent_p.K1291K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1559					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CACCTTCTTTCTTCAGTCGAC	0.468000													26	15					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924385	44924385	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:44924385T>C	ENST00000395699.2	-	1	575	c.563A>G	c.(562-564)aAg>aGg	p.K188R		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	188	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GTCTATGAGCTTCGCCAGCGC	0.761000													5	8					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35609271	35609271	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:35609271G>C	ENST00000336395.5	+	10	1663	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	471					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGTGCGAGGGCAGCAGCC	0.672000													7	19					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805697	20805697	+	RNA	SNP	C	C	G	rs112570501	by1000genomes	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:20805697C>G	ENST00000577537.1	+	0	881				RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							CCGGCTTCACCCTCGGCTTCA	0.552000													6	28					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073400	134073400	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:134073400C>T	ENST00000264360.5	+	1	2931	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCAGCGCCCCAGTCGCTCT	0.682000													4	43					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100471701	100471701	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:100471701A>C	ENST00000471714.1	-	65	5134	c.5025T>G	c.(5023-5025)taT>taG	p.Y1675*	ABI3BP_ENST00000383691.4_Nonsense_Mutation_p.Y927*|ABI3BP_ENST00000284322.5_Nonsense_Mutation_p.Y973*			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	973						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAATTTTTTATACCATGTCC	0.428000													11	47					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138679967	138679967	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:138679967C>T	ENST00000298480.5	+	30	3598	c.3524C>T	c.(3523-3525)gCc>gTc	p.A1175V	KCNT1_ENST00000487664.1_Missense_Mutation_p.A1130V|KCNT1_ENST00000371757.2_Intron|KCNT1_ENST00000263604.3_Missense_Mutation_p.A1149V|KCNT1_ENST00000488444.2_Missense_Mutation_p.A1154V|KCNT1_ENST00000486577.2_Missense_Mutation_p.A1132V|KCNT1_ENST00000491806.2_Missense_Mutation_p.A1140V|KCNT1_ENST00000490355.2_Missense_Mutation_p.A1153V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1167						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AATTTAACAGCCAGTGATGTC	0.547000													14	80					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118901	31118901	+	Splice_Site	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:31118901T>G	ENST00000396268.3	-	5	990		c.e5-2		CCHCR1_ENST00000451521.2_Splice_Site|CCHCR1_ENST00000376266.5_Splice_Site|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Splice_Site	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGAGGACAGCTGCGGAAAGAA	0.547000													33	91					0	0	1	0	0
UPK1A	11045	broad.mit.edu	37	19	36159435	36159435	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:36159435C>G	ENST00000222275.2	+	2	164	c.164C>G	c.(163-165)tCa>tGa	p.S55*	UPK1A_ENST00000379013.2_Nonsense_Mutation_p.S55*|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	55					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGGAGTCTCAGGCAAGGAT	0.577000													9	43					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115589981	115589981	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:115589981A>G	ENST00000371900.4	+	14	1877	c.1789A>G	c.(1789-1791)Ata>Gta	p.I597V	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	597					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCAGCGCCTTATAAGTTGCTG	0.368000													22	2					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698638	43698638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:43698638C>T	ENST00000405312.3	-	5	1334	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*	PSG4_ENST00000244295.9_Nonsense_Mutation_p.W273*|PSG4_ENST00000433626.2_Nonsense_Mutation_p.W273*	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	366	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATTAATTGTCCAAGAATATTG	0.458000													36	91					0	0	1	0	0
APIP	51074	broad.mit.edu	37	11	34904274	34904274	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:34904274C>G	ENST00000395787.3	-	7	933	c.719G>C	c.(718-720)gGa>gCa	p.G240A	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.G257A	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	240					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TTAGACAATTCCATTTTCTCC	0.289000													22	24					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618818	37618818	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:37618818G>A	ENST00000399151.3	+	19	4625	c.4540G>A	c.(4540-4542)Ggc>Agc	p.G1514S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1514					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTACGGTTACGGCATGCATCC	0.627000													15	65					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725997	123725997	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:123725997C>G	ENST00000223642.1	-	34	4269	c.4240G>C	c.(4240-4242)Gaa>Caa	p.E1414Q		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1414					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GATGATGATTCTTCCCTGCTG	0.373000													12	68					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020166	8020166	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:8020166C>T	ENST00000380149.1	-	2	778	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	ALOXE3_ENST00000318227.3_Missense_Mutation_p.G226S|ALOXE3_ENST00000448843.2_Missense_Mutation_p.G94S			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	94	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GATACACTACCATCCGGTTCG	0.567000													20	1					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50488355	50488355	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:50488355G>A	ENST00000394963.4	+	10	1667	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	SMARCD1_ENST00000381513.4_Splice_Site_p.K423K|SMARCD1_ENST00000548573.1_Splice_Site_p.K221K	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	423	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						TAGACAACAAGGTAGGGGTCT	0.473000													19	39					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56472448	56472448	+	Silent	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:56472448T>G	ENST00000370754.5	-	39	6878	c.6879A>C	c.(6877-6879)atA>atC	p.I2293I	DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Silent_p.I2115I|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.I1789I|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.I2115I|DST_ENST00000312431.6_Silent_p.I2115I			Q03001	DYST_HUMAN	dystonin	2115					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)			GATCAATTGATATTGTACTTG	0.338000													24	33					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86223808	86223808	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:86223808G>A	ENST00000314673.3	-	25	2713	c.2537C>T	c.(2536-2538)tCa>tTa	p.S846L	SNX14_ENST00000369627.2_Missense_Mutation_p.S837L|SNX14_ENST00000505648.1_Missense_Mutation_p.S794L|SNX14_ENST00000346348.3_Missense_Mutation_p.S793L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.S565L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	846					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TGTTATGAGTGAGACCAAACG	0.338000													27	63					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74988493	74988493	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:74988493C>T	ENST00000420843.2	-	9	716		c.e9-1		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GGTAATAGATCTGGGGGGCAT	0.552000													25	116					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35826128	35826128	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:35826128G>A	ENST00000423537.2	-	2	300	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	11										endometrium(2)|kidney(1)|lung(4)	7						ATGGTGATATGAGGCTCTTCT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	28					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144167249	144167249	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:144167249A>G	ENST00000367576.5	+	3	331	c.197A>G	c.(196-198)tAt>tGt	p.Y66C		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	66										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		GATGACGACTATGACTACCTG	0.433000													6	36					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28543194	28543194	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:28543194G>C	ENST00000401766.2	-	6	1390	c.878C>G	c.(877-879)tCt>tGt	p.S293C	SLC6A4_ENST00000261707.3_Missense_Mutation_p.S293C			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	293					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CAGCAGGACAGAAAGGATGAT	0.567000													9	35					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268359	43268359	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:43268359C>G	ENST00000404209.4	-	2	235	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	PSG8_ENST00000401467.2_Missense_Mutation_p.E47Q|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.E47Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	47	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCCTTCCCCTCAGAAACTTTG	0.478000													51	238					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239010607	239010607	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:239010607C>T	ENST00000343063.3	+	2	583	c.320C>T	c.(319-321)cCg>cTg	p.P107L	ESPNL_ENST00000409169.1_Missense_Mutation_p.P107L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	107										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCGTCTCCCCGCTGCACCTG	0.706000													7	0					0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35497299	35497299	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:35497299G>A	ENST00000556994.1	+	16	1730	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SRP54_ENST00000546080.1_Missense_Mutation_p.D396N|SRP54_ENST00000555557.1_Missense_Mutation_p.D381N|SRP54_ENST00000216774.6_Missense_Mutation_p.D445N			P61011	SRP54_HUMAN	signal recognition particle 54kDa	445	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CTCAGGTGGCGACATGTCTAA	0.378000													39	0					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702423	179702423	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:179702423C>G	ENST00000420890.2	-	23	3640	c.3523G>C	c.(3523-3525)Gag>Cag	p.E1175Q	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E600Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	600							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGTAGTCGCTCTTCCCCTGTT	0.488000													42	6					0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170110336	170110336	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:170110336T>C	ENST00000339209.4	-	9	1232	c.1109A>G	c.(1108-1110)tAc>tGc	p.Y370C	PHF10_ENST00000366780.4_Missense_Mutation_p.Y368C	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	370					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTCTACCTTGTACCCAGGAAC	0.458000													28	91					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955602	57955602	+	Translation_Start_Site	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:57955602T>C	ENST00000539018.1	-	0	290				TUBD1_ENST00000592426.1_Missense_Mutation_p.K211E|TUBD1_ENST00000376094.4_Missense_Mutation_p.K211E|TUBD1_ENST00000340993.6_Missense_Mutation_p.K211E|TUBD1_ENST00000394239.3_Missense_Mutation_p.K211E|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.K211E	NM_001193613.1	NP_001180542.1	Q9UJT1	TBD_HUMAN	tubulin, delta 1						cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GCACAGATCTTATGGATGGCA	0.418000													20	63					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47058594	47058594	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:47058594C>T	ENST00000409792.3	-	21	7726	c.7684G>A	c.(7684-7686)Gaa>Aaa	p.E2562K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2562	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACTCTAATTCAGTGTCCTCT	0.498000			"""N, F, S, Mis"""		clear cell renal carcinoma								14	32					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300391	88300391	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:88300391C>T	ENST00000418177.2	-	8	2827	c.2460G>A	c.(2458-2460)ccG>ccA	p.P820P	GRM5_ENST00000305447.4_Silent_p.P820P|GRM5_ENST00000305432.5_Silent_p.P820P|GRM5_ENST00000393297.1_Silent_p.P820P|GRM5_ENST00000455756.2_Silent_p.P820P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	820					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGTACACCTTCGGCACAAACA	0.527000													49	37					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4845213	4845213	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:4845213G>C	ENST00000399583.3	-	10	2461	c.2274C>G	c.(2272-2274)ccC>ccG	p.P758P	RADIL_ENST00000538469.1_Silent_p.P518P|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	758	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGAAGGCCTCGGGGCTGTCCT	0.687000													6	31					0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57026406	57026406	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:57026406A>C	ENST00000251047.5	-	1	788	c.71T>G	c.(70-72)cTc>cGc	p.L24R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	24					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GAAGCGACCGAGTGACAGCAG	0.662000													13	40					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111887764	111887764	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:111887764C>T	ENST00000368761.5	-	7	1838		c.e7-1		TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Splice_Site|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000340026.6_Splice_Site|TRAF3IP2_ENST00000368731.2_Splice_Site|TRAF3IP2_ENST00000359831.4_Intron|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Splice_Site|TRAF3IP2-AS1_ENST00000456352.2_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2						intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCACGGTCTTCTGTTAATGAG	0.512000													18	62					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29693775	29693775	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:29693775C>G	ENST00000261593.3	+	4	802	c.344C>G	c.(343-345)tCt>tGt	p.S115C	RNF138_ENST00000257190.5_Intron|RNF138_ENST00000585103.1_3'UTR	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	115					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TATGGTGTTTCTTCTATCATT	0.279000													11	22					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160660	56160660	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:56160660C>T	ENST00000586790.1	+	2	1025	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000308964.3_Missense_Mutation_p.R41W|CCDC106_ENST00000588740.1_Missense_Mutation_p.R41W|CCDC106_ENST00000591578.1_Missense_Mutation_p.R41W			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	41						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAGCCCCTCTCGGAGAAACTT	0.597000													20	49					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130188097	130188097	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:130188097G>A	ENST00000265379.6	+	38	7743	c.7249G>A	c.(7249-7251)Gaa>Aaa	p.E2417K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E2417K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2417	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATCTGCTGGCGAAACCAACTC	0.408000													31	16					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983917	223983917	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:223983917G>C	ENST00000391878.2	-	14	2705	c.1937C>G	c.(1936-1938)tCa>tGa	p.S646*	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.S775*|TP53BP2_ENST00000391879.2_Nonsense_Mutation_p.S8*	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	769					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGATGGGTATGATGGGACAGA	0.478000													76	6					0	0	1	0	0
SGPL1	8879	broad.mit.edu	37	10	72635217	72635217	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:72635217C>G	ENST00000373202.3	+	13	1557	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	453					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AGTCATTGCTCTGGGATCCCG	0.398000													17	49					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34883425	34883425	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:34883425G>A	ENST00000431794.3	-	5	779	c.257C>T	c.(256-258)tCg>tTg	p.S86L	MYO19_ENST00000586007.1_Missense_Mutation_p.S86L|MYO19_ENST00000268852.9_Missense_Mutation_p.S86L|MYO19_ENST00000544606.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	86	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGCTCGGGCGAGTAGAGCTG	0.602000													3	15					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68805035	68805035	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:68805035G>A	ENST00000303795.4	+	10	1588	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	473					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGATGATGAGGAAGAAGACTA	0.393000													44	13					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55625253	55625253	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:55625253A>G	ENST00000370830.3	-	5	1803		c.e5+1		BMP5_ENST00000446683.2_Splice_Site	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5						cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAAAATTCCTACCTGCCATCC	0.358000													14	27					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437206	142437206	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:142437206G>A	ENST00000378004.3	+	17	1787		c.e17-1		ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTTGCAGAACTGGAGAA	0.453000													45	34					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138289904	138289904	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:138289904C>T	ENST00000264982.3	-	5	522	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CEP70_ENST00000464035.1_Missense_Mutation_p.E86K|CEP70_ENST00000542237.1_Missense_Mutation_p.E66K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.E86K|CEP70_ENST00000484888.1_Missense_Mutation_p.E86K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	86					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCTATAAGCTCCTGTATCATG	0.323000													10	62					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890959	23890959	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:23890959T>A	ENST00000532292.1	-	1	216	c.122A>T	c.(121-123)cAg>cTg	p.Q41L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGCTCCAGCTGGACCAAGGG	0.697000													3	6					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173196	161173196	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:161173196G>A	ENST00000308192.9	+	18	2238	c.2175G>A	c.(2173-2175)gaG>gaA	p.E725E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	725	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGTGATTGAGAATAAAGTGT	0.473000													16	35					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28539850	28539850	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:28539850G>C	ENST00000401766.2	-	8	1624	c.1112C>G	c.(1111-1113)aCg>aGg	p.T371R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T371R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	371					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AACGAAGCTCGTCATGCAGTT	0.547000													3	31					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26405878	26405878	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:26405878T>A	ENST00000289361.6	+	2	453		c.e2+2		BTN3A1_ENST00000425234.2_Splice_Site|BTN3A1_ENST00000476549.2_Splice_Site|BTN3A1_ENST00000414912.2_Splice_Site	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1						lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTCACTCAGGTAGGGAACAAT	0.463000													9	61					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420808	38420808	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:38420808T>A	ENST00000323571.4	+	5	620	c.380T>A	c.(379-381)gTa>gAa	p.V127E	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.V127E|WIPF2_ENST00000585043.1_Missense_Mutation_p.V127E	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	127						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGGCCTCCAGTATCTGCCGCC	0.582000										HNSCC(43;0.11)			12	56					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10637059	10637059	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:10637059G>A	ENST00000254958.5	-	5	1257	c.742C>T	c.(742-744)Cca>Tca	p.P248S	JAG1_ENST00000423891.2_Missense_Mutation_p.P89S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	248	EGF-like 1.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCACCTGGGAGTTTGCAA	0.438000									Alagille Syndrome				13	20					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26499590	26499590	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:26499590G>C	ENST00000407008.3	+	7	1813	c.1095G>C	c.(1093-1095)atG>atC	p.M365I		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	365	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGAAGCAATGAGGACAGCTT	0.433000													3	11					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10784785	10784785	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:10784785G>A	ENST00000313243.2	-	11	1719	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L	MAK_ENST00000354489.2_Missense_Mutation_p.S446L|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.S446L			P20794	MAK_HUMAN	male germ cell-associated kinase	446					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GTTGGAGCCTGAGGGTACTGG	0.507000													30	37					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69229661	69229661	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:69229661C>T	ENST00000462284.1	+	9	1039	c.737C>T	c.(736-738)tCa>tTa	p.S246L	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S45L|MDM2_ENST00000348801.2_Missense_Mutation_p.S40L|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.S215L|MDM2_ENST00000356290.4_Missense_Mutation_p.S70L|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S70L|MDM2_ENST00000540827.1_Missense_Mutation_p.S45L|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.S45L|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S191L|MDM2_ENST00000258149.5_Missense_Mutation_p.S185L	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	240	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GATCAGGATTCAGTTTCAGAT	0.353000			A		"""sarcoma, glioma, colorectal, other"""								23	47					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267961	1267961	+	Missense_Mutation	SNP	C	C	G	rs151004472		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:1267961C>G	ENST00000339381.5	+	3	1082	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	350					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ACCCGGCCTTCTGCTCTGCCC	0.677000													5	25					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124303598	124303598	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:124303598G>T	ENST00000409039.3	+	21	3553	c.3528G>T	c.(3526-3528)aaG>aaT	p.K1176N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1176	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGACATAAAGAGAACTTTCA	0.373000													5	8					0.00116845	0.00119489	1	1	0
MVB12B	89853	broad.mit.edu	37	9	129157882	129157882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:129157882C>T	ENST00000361171.3	+	6	649	c.568C>T	c.(568-570)Cga>Tga	p.R190*	MVB12B_ENST00000436593.3_Nonsense_Mutation_p.R175*|MVB12B_ENST00000535766.1_Nonsense_Mutation_p.R183*|MVB12B_ENST00000545391.1_Nonsense_Mutation_p.R190*	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		GATCTGGTATCGAATGGGCAG	0.498000													50	23					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110830932	110830932	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:110830932G>C	ENST00000485303.1	+	2	491	c.216G>C	c.(214-216)aaG>aaC	p.K72N	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.K72N|PVRL3_ENST00000493615.1_Missense_Mutation_p.K49N	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	72	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATGGGGAAAGAATGTTTCAT	0.358000													20	27					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923446	78923446	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:78923446A>G	ENST00000261751.3	-	4	442	c.331T>C	c.(331-333)Tgg>Cgg	p.W111R	CHRNB4_ENST00000412074.2_Missense_Mutation_p.W111R|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	111					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCAGGCAACCAGATGCGCTTT	0.592000													12	41					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38759342	38759342	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:38759342G>C	ENST00000359357.3	+	19	2396	c.2142G>C	c.(2140-2142)ttG>ttC	p.L714F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L931F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L714F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTGACTTGTGTGAAATGC	0.353000													6	27					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59793312	59793312	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:59793312A>G	ENST00000395125.1	+	10	1282	c.1259A>G	c.(1258-1260)cAg>cGg	p.Q420R	DAAM1_ENST00000351081.1_Missense_Mutation_p.Q420R|DAAM1_ENST00000360909.3_Missense_Mutation_p.Q420R	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	420	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GACAAAGGACAGGACCCTGAC	0.378000													35	4					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074787	143074787	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:143074787C>T	ENST00000367603.2	-	10	7540	c.6798G>A	c.(6796-6798)gcG>gcA	p.A2266A	HIVEP2_ENST00000367604.1_Silent_p.A2266A|HIVEP2_ENST00000012134.2_Silent_p.A2266A|RP1-67K17.3_ENST00000437067.1_RNA	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTCCCCTGACGCGCCTTTCT	0.557000													22	9					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107592669	107592669	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:107592669C>G	ENST00000393561.1	-	21	3336		c.e21-1		LAMB1_ENST00000222399.6_Splice_Site			P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGACACACTCTGCAAAAGAA	0.463000													6	7					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998165	27998165	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:27998165C>T	ENST00000441525.1	-	1	1401	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	429								p.K429K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTTATATCTCTTAACATATT	0.453000													9	2					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41512242	41512242	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:41512242G>A	ENST00000402904.2	-	12	1673	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	SCMH1_ENST00000326197.7_Silent_p.L435L|SCMH1_ENST00000456518.2_Silent_p.L277L|SCMH1_ENST00000361705.3_Silent_p.L388L|SCMH1_ENST00000372597.1_Silent_p.L388L|SCMH1_ENST00000397171.2_Silent_p.L374L|SCMH1_ENST00000372596.1_Silent_p.L374L|SCMH1_ENST00000337495.5_Silent_p.L445L|SCMH1_ENST00000361191.5_Silent_p.L374L|SCMH1_ENST00000372595.1_Silent_p.L374L|SCMH1_ENST00000397174.2_Silent_p.L415L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	435					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGGGAGGTTGAGGGTATGCT	0.552000													31	11					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425520	143425520	+	Silent	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:143425520C>A	ENST00000524325.1	-	4	727	c.552G>T	c.(550-552)ctG>ctT	p.L184L	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Silent_p.L184L|TSNARE1_ENST00000520166.1_Silent_p.L184L			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	184					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTTGTGCTTCAGGTCCACAA	0.701000													8	38					5.18039e-06	5.41298e-06	1	1	0
DENND1C	79958	broad.mit.edu	37	19	6467649	6467649	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:6467649C>G	ENST00000381480.2	-	23	2384	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.E714Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	758						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGAGCGCGCTCTGCCAGCAGG	0.632000													5	4					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768563	45768563	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:45768563T>C	ENST00000405872.1	-	2	543	c.140A>G	c.(139-141)cAa>cGa	p.Q47R	KCTD4_ENST00000379108.1_Missense_Mutation_p.Q47R|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	47	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TGTTTGTTTTTGAGTAATGTA	0.398000													112	12					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022370	62022370	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:62022370C>G	ENST00000435607.1	-	20	3847	c.3771G>C	c.(3769-3771)cgG>cgC	p.R1257R	SCN4A_ENST00000578147.1_Silent_p.R1257R	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1257					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GACTCACCTCCCGGGAGTCCA	0.612000													7	14					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892452	22892452	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:22892452C>G	ENST00000543184.1	-	4	1511	c.649G>C	c.(649-651)Gca>Cca	p.A217P	PRAME_ENST00000398743.2_Missense_Mutation_p.A217P|PRAME_ENST00000402697.1_Missense_Mutation_p.A217P|PRAME_ENST00000539862.1_Missense_Mutation_p.A201P|PRAME_ENST00000398741.1_Missense_Mutation_p.A217P|PRAME_ENST00000405655.3_Missense_Mutation_p.A217P|PRAME_ENST00000424204.2_Missense_Mutation_p.A201P	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	217					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATGGGCATTGCAAAAATCTTC	0.443000													15	78					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351282	131351282	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:131351282C>G	ENST00000342983.2	-	2	761	c.15G>C	c.(13-15)aaG>aaC	p.K5N	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.K5N	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	5					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ACACCACTACCTTGTATTCCC	0.537000													38	4					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84209560	84209560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:84209560G>T	ENST00000378553.5	+	11	1844	c.1720G>T	c.(1720-1722)Gag>Tag	p.E574*	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	574					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TCCGAAGATTGAGGTCATCTC	0.443000											OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	48					2.68985e-26	3.02018e-26	1	1	0
RAD50	10111	broad.mit.edu	37	5	131915076	131915076	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:131915076G>C	ENST00000378823.3	+	4	834	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	RAD50_ENST00000265335.6_Missense_Mutation_p.G145R	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	145					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTTCTCTTGGGGTTTCCAA	0.368000								Homologous recombination					18	36					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14497097	14497097	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:14497097G>C	ENST00000344204.4	+	50	8014	c.7990G>C	c.(7990-7992)Gaa>Caa	p.E2664Q	TRIO_ENST00000344135.5_Missense_Mutation_p.E163Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E2488Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2664					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGTCACGGGAAGGACTCAG	0.488000													12	17					0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173019880	173019880	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:173019880C>A	ENST00000404377.3	-	1	223		c.e1+1		TNFSF18_ENST00000239468.2_Splice_Site|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18						anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TGCCTCCTTACCTCTAATTGG	0.343000													5	1					0.014758	0.014933	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814921	242814921	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:242814921T>A	ENST00000343216.3	+	2	1242	c.1214T>A	c.(1213-1215)cTg>cAg	p.L405Q		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	405						integral to membrane											CACGACGCCCTGCCAGAGACC	0.602000													11	6					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219555186	219555186	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:219555186C>G	ENST00000295709.3	+	14	1951	c.1672C>G	c.(1672-1674)Cag>Gag	p.Q558E	STK36_ENST00000392105.3_Missense_Mutation_p.Q558E|STK36_ENST00000392106.2_Missense_Mutation_p.Q558E|STK36_ENST00000440309.1_Missense_Mutation_p.Q558E	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	558					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCAGGTGTTTCAGGAGGCTGC	0.527000													38	0					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186522426	186522426	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:186522426G>A	ENST00000392481.2	-	2	358	c.77C>T	c.(76-78)gCg>gTg	p.A26V	RFC4_ENST00000296273.2_Missense_Mutation_p.A26V|RFC4_ENST00000433496.1_Missense_Mutation_p.A26V	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	26					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCTACTTCCCGCACTGGCAGC	0.448000													4	153					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42843904	42843904	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:42843904G>A	ENST00000398585.3	-	10	1075	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.L302F|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.L302F	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	302	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GGATTGTTAAGAGGTCTGGGA	0.468000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								5	49					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151876	158151876	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:158151876C>T	ENST00000368171.3	+	4	882	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	128					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGAACGCCTCAAATAACTTC	0.488000													24	135					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63971086	63971086	+	Silent	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:63971086A>T	ENST00000358794.5	+	13	2245	c.1692A>T	c.(1690-1692)gcA>gcT	p.A564A	STIP1_ENST00000305218.4_Silent_p.A517A|STIP1_ENST00000538945.1_Silent_p.A493A	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	517					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						ACCCCCAGGCACTCAGCGAGT	0.587000													5	17					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874708	26874708	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:26874708G>A	ENST00000484980.1	-	3	3473	c.312C>T	c.(310-312)ctC>ctT	p.L104L	UNC119_ENST00000470125.1_Silent_p.L104L|UNC119_ENST00000335765.4_Silent_p.L199L|UNC119_ENST00000301032.4_Silent_p.L199L			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	199					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCTCCTCGGAGAGAGGGGGGA	0.592000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	31					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25928944	25928944	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:25928944A>C	ENST00000398988.3	+	13	1570	c.1125A>C	c.(1123-1125)aaA>aaC	p.K375N	KSR1_ENST00000319524.6_Missense_Mutation_p.K512N|KSR1_ENST00000509603.2_Intron|KSR1_ENST00000581975.1_Intron|KSR1_ENST00000268763.6_Missense_Mutation_p.K375N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	510					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATTGCTGGAAATGCCTCCTTA	0.443000											OREG0024261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199914	26199914	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:26199914A>G	ENST00000359985.1	+	1	167	c.128A>G	c.(127-129)tAc>tGc	p.Y43C		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	43					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GTGTACGTGTACAAGGTGCTA	0.552000													95	122					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90669563	90669563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:90669563G>A	ENST00000265138.3	-	7	1392	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	376					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		AGTGGTCCTTGAAGGGCTCTC	0.458000													33	42					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980729	23980729	+	RNA	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:23980729G>A	ENST00000455485.1	-	0	3760				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA																							GAGAAGGGCTGAATGGCTTGG	0.522000													5	13					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019457	245019457	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:245019457T>A	ENST00000444376.2	-	11	2093	c.1859A>T	c.(1858-1860)aAc>aTc	p.N620I	HNRNPU_ENST00000283179.9_Missense_Mutation_p.N639I	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	639					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GAGGGTAAAGTTTCCTGCAGG	0.378000													16	42					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637488	46637488	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:46637488C>T	ENST00000326737.3	-	2	547	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	100						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CACAACGACTCATAGACGCCT	0.502000													21	27					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73029818	73029818	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:73029818G>T	ENST00000268057.4	+	16	1491		c.e16-1		BBS4_ENST00000539603.1_Splice_Site|BBS4_ENST00000542334.1_Splice_Site|BBS4_ENST00000395205.2_Splice_Site	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4						adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TTTGTTACTAGGTGCTGGAGG	0.418000									Bardet-Biedl syndrome				5	6					2.0095e-06	2.117e-06	1	1	0
PCNT	5116	broad.mit.edu	37	21	47836173	47836173	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:47836173C>T	ENST00000359568.5	+	30	6448	c.6341C>T	c.(6340-6342)tCc>tTc	p.S2114F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2114					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTGATGATTCCTGTGACGGA	0.507000													37	11					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41158836	41158836	+	Silent	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:41158836A>T	ENST00000263413.3	-	13	2172	c.1908T>A	c.(1906-1908)ccT>ccA	p.P636P	C6_ENST00000337836.5_Silent_p.P636P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	636					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTCTATCTCAGGAAGATCGA	0.393000													21	25					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42860361	42860361	+	Silent	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:42860361G>T	ENST00000398585.3	-	5	576	c.516C>A	c.(514-516)ggC>ggA	p.G172G	TMPRSS2_ENST00000458356.1_Silent_p.G135G|TMPRSS2_ENST00000332149.5_Silent_p.G135G|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	135	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGTGTGACACGCCATCACACC	0.587000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								4	30					0.150653	0.151442	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40840568	40840568	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:40840568G>C	ENST00000264638.4	+	9	1612	c.1395G>C	c.(1393-1395)ggG>ggC	p.G465G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	465	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATGTGGAAGGGGCAGAGGTCA	0.522000													27	35					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86998750	86998750	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:86998750C>G	ENST00000331536.3	+	7	791	c.606C>G	c.(604-606)gtC>gtG	p.V202V	CROT_ENST00000419147.2_Silent_p.V230V|CROT_ENST00000442291.1_Silent_p.V202V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	202					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAGCTTTTGTCTTTGATGTAA	0.438000													27	118					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103270424	103270424	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:103270424C>G	ENST00000375735.2	+	84	12334	c.12190C>G	c.(12190-12192)Cct>Gct	p.P4064A	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P4071A|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4064					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTGCCTCCTCCTAACGATCG	0.348000													17	9					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32709248	32709248	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:32709248C>G	ENST00000380250.3	+	10	1501	c.1005C>G	c.(1003-1005)ccC>ccG	p.P335P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAAATGTTCCCTGCCTTAGAA	0.323000													15	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:7578253C>A	ENST00000420246.2	-	6	728	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCAAATTTCCTTCCACTCG	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	1					5.35356e-11	5.8237e-11	1	1	0
ASAP1	50807	broad.mit.edu	37	8	131127885	131127885	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:131127885G>C	ENST00000357668.1	-	22	2188	c.2161C>G	c.(2161-2163)Ctg>Gtg	p.L721V	ASAP1_ENST00000518721.1_Missense_Mutation_p.L721V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	721					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGTCATCCAGATCATCATCG	0.418000													19	182					0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120241954	120241954	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:120241954C>A	ENST00000274024.3	-	2	398	c.111G>T	c.(109-111)ttG>ttT	p.L37F		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	37							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTGTCAGCTTCAAATTGTCAT	0.328000													9	55					0.00448238	0.00455956	1	1	0
TMOD3	29766	broad.mit.edu	37	15	52181290	52181290	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:52181290G>C	ENST00000308580.7	+	5	725	c.444G>C	c.(442-444)aaG>aaC	p.K148N	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.K148N	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	148						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CGAATACAAAGTTCTGTAATA	0.259000													8	40					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178352918	178352918	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:178352918T>C	ENST00000264595.2	-	9	1112	c.985A>G	c.(985-987)Atg>Gtg	p.M329V		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	329					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTATAAACCATGAAACTAAAC	0.338000													27	32					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103565822	103565822	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:103565822C>G	ENST00000361464.3	-	6	1126	c.731G>C	c.(730-732)gGa>gCa	p.G244A	MGEA5_ENST00000370094.3_Missense_Mutation_p.G244A|MGEA5_ENST00000439817.1_Missense_Mutation_p.G244A|MGEA5_ENST00000357797.5_Missense_Mutation_p.G244A|MGEA5_ENST00000419011.2_3'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	244					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CACTTCAATTCCAGGTAGAAG	0.353000													6	39					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	17					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174777934	174777934	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:174777934G>C	ENST00000310015.6	-	6	2423	c.1893C>G	c.(1891-1893)gtC>gtG	p.V631V	SP3_ENST00000418194.2_Silent_p.V563V|SP3_ENST00000455789.2_Silent_p.V578V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	631					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTTCCCATAGACTTTACCAC	0.373000													39	4					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046048	213046048	+	Silent	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:213046048A>G	ENST00000366971.4	+	3	1110	c.912A>G	c.(910-912)ccA>ccG	p.P304P		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	304					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GGTATCCACCAAGTCAGGCTC	0.333000													5	44					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664758	22664758	+	RNA	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:22664758C>T	ENST00000426066.1	+	0	939					NR_027293.1																						CAAGGACTCTCTGTATAAGGT	0.488000													4	20					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135099129	135099129	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:135099129C>G	ENST00000428680.2	-	5	791	c.512G>C	c.(511-513)aGa>aCa	p.R171T	CNOT4_ENST00000451834.1_Missense_Mutation_p.R171T|CNOT4_ENST00000541284.1_Missense_Mutation_p.R171T|CNOT4_ENST00000356162.4_Missense_Mutation_p.R171T|CNOT4_ENST00000361528.4_Missense_Mutation_p.R171T|CNOT4_ENST00000315544.5_Missense_Mutation_p.R171T|CNOT4_ENST00000414802.1_Missense_Mutation_p.R171T|CNOT4_ENST00000423368.2_Missense_Mutation_p.R171T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	171	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTGTATGGCTCTGAGAGCGTC	0.368000													37	111					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704513	52704513	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:52704513C>G	ENST00000287727.3	+	4	1596	c.1424C>G	c.(1423-1425)tCt>tGt	p.S475C	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S475C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S475C			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	475					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AATTATCTATCTAATGGTTGT	0.368000													73	34					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995614	1995614	+	Silent	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:1995614G>C	ENST00000268661.7	-	9	1147	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	351					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GATGCACCAGGAGGGACTGGG	0.552000													15	36					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574576	57574576	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:57574576A>C	ENST00000243077.3	+	33	5979	c.5513A>C	c.(5512-5514)gAg>gCg	p.E1838A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1838					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCTATGACGAGAGCATCCAG	0.657000													6	45					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744590	25744590	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:25744590C>T	ENST00000357816.2	-	3	1286	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	AMER2_ENST00000515384.1_Missense_Mutation_p.E390K|AMER2_ENST00000381853.3_Missense_Mutation_p.E271K					APC membrane recruitment protein 2									p.E271K(1)|p.E390K(1)									CCTGCCTCTTCCTCTTGGTCT	0.542000													12	42					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158743	26158743	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:26158743A>T	ENST00000289316.2	+	1	370	c.346A>T	c.(346-348)Acc>Tcc	p.T116S	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.T116S	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	116					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GTCGGAGGGCACCAAGGCCGT	0.557000													7	60					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063824	71063824	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:71063824G>A	ENST00000396094.2	+	4	373	c.325G>A	c.(325-327)Gat>Aat	p.D109N		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	109	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						AGGCCAAGTTGATCCCTTACA	0.507000													31	67					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5226980	5226980	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:5226980C>G	ENST00000334314.3	-	1	164	c.88G>C	c.(88-90)Gat>Cat	p.D30H	AKR1CL1_ENST00000445191.1_Missense_Mutation_p.D26H					aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTTACATGATCAGGAGCATAA	0.522000													21	22					0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416628	144416628	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:144416628C>T	ENST00000367569.2	-	1	126	c.7G>A	c.(7-9)Gac>Aac	p.D3N		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	3					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTGTAGCGGTCAGTCATCTCG	0.602000													17	11					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30925102	30925102	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:30925102C>T	ENST00000597505.1	-	30	4436	c.4437G>A	c.(4435-4437)caG>caA	p.Q1479Q	DCDC1_ENST00000339794.5_Silent_p.Q558Q|DCDC1_ENST00000406071.2_Silent_p.Q214Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGAGTCTCTCTGGAGAAAGG	0.423000													3	6					0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53232563	53232563	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:53232563G>A	ENST00000310528.8	+	4	272	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SUGT1_ENST00000343788.6_Missense_Mutation_p.E73K|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_Missense_Mutation_p.E17K			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGTCTCTAGAACTCAATCC	0.358000													11	47					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89744742	89744742	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:89744742G>C	ENST00000279488.7	-	2	1692	c.461C>G	c.(460-462)tCg>tGg	p.S154W	DUSP6_ENST00000547291.1_Missense_Mutation_p.S29W|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	154					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GCTGCTACACGAGCCGTCTAG	0.582000													6	6					0	0	1	0	0
NIFK	84365	broad.mit.edu	37	2	122485320	122485320	+	Silent	SNP	G	G	T	rs147757149	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:122485320G>T	ENST00000285814.4	-	7	934	c.862C>A	c.(862-864)Cga>Aga	p.R288R	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		288					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTGCTTCTTCGTCTTTTTTTC	0.303000													54	5					3.40343e-31	3.83823e-31	1	1	0
ADAT1	23536	broad.mit.edu	37	16	75654569	75654569	+	Silent	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:75654569T>A	ENST00000307921.3	-	3	274	c.129A>T	c.(127-129)ccA>ccT	p.P43P		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	43					tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CCTTGTCAGCTGGAGATTGTA	0.498000													8	29					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122288121	122288121	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:122288121G>C	ENST00000296161.4	+	3	1374	c.1185G>C	c.(1183-1185)gaG>gaC	p.E395D	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	395					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TACTACAGGAGATATCAGAGA	0.378000													38	64					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125993	12125993	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:12125993C>T	ENST00000379388.2	+	4	6297	c.5965C>T	c.(5965-5967)Ctt>Ttt	p.L1989F	HIVEP1_ENST00000541134.1_5'UTR	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1989					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTTGCTCTCCTTAATTCAAA	0.423000													38	29					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278565	94278565	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:94278565C>T	ENST00000358752.2	+	1	1549	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	422					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGATTATATCACCGAGAAGC	0.662000													8	13					0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77003661	77003661	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:77003661A>G	ENST00000355810.4	+	3	873	c.754A>G	c.(754-756)Agc>Ggc	p.S252G	ART3_ENST00000349321.3_Missense_Mutation_p.S252G|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.S252G	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	252					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAAGACCTGCAGCCATTATGA	0.453000													15	68					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42743140	42743140	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:42743140C>G	ENST00000263805.4	-	2	1587	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		GCAGCGGAATCAGAAGAGGCC	0.438000													9	182					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43315963	43315963	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:43315963G>A	ENST00000331495.3	+	10	1263	c.927G>A	c.(925-927)ctG>ctA	p.L309L	FMNL1_ENST00000328118.3_Silent_p.L309L|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	309	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TTGAAAAGCTGATGGAATATT	0.587000													9	29					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21118559	21118559	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:21118559C>T	ENST00000269228.5	-	20	3542	c.2988G>A	c.(2986-2988)atG>atA	p.M996I	NPC1_ENST00000412552.2_Missense_Mutation_p.M678I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	996			M -> R (in NPC1).		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)					GCAGGAATCTCATGAAGTCTC	0.552000													57	90					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873849	36873849	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:36873849G>T	ENST00000429976.2	-	21	7340	c.7093C>A	c.(7093-7095)Ctt>Att	p.L2365I	TRANK1_ENST00000428977.2_Missense_Mutation_p.L1815I|TRANK1_ENST00000301807.6_Missense_Mutation_p.L1815I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2365					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCCAGAAGCCGGATGAAG	0.458000													8	55					3.09899e-07	3.30558e-07	1	1	0
PMPCB	9512	broad.mit.edu	37	7	102939145	102939145	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:102939145C>T	ENST00000249269.4	+	2	268	c.230C>T	c.(229-231)tCa>tTa	p.S77L	PMPCB_ENST00000428154.1_Missense_Mutation_p.S77L|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	77					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGGCTCTCAACATGCACA	0.428000													28	13					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43795964	43795964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:43795964C>T	ENST00000282059.6	+	2	492	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	C18orf25_ENST00000321319.6_Nonsense_Mutation_p.Q40*	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	40										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ACTGGAATCTCAAGTTCAGAA	0.448000													44	13					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28214876	28214876	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:28214876A>G	ENST00000284984.3	-	2	1313	c.859T>C	c.(859-861)Tcg>Ccg	p.S287P		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCTGCCACCGAAAACAACGTG	0.512000													17	66					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16932423	16932423	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:16932423A>T	ENST00000377833.4	-	55	8767	c.8702T>A	c.(8701-8703)gTc>gAc	p.V2901D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2901	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACTGGAAGACGGCAGTGAA	0.577000													8	26					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914984	119914984	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:119914984C>T	ENST00000331113.4	+	1	1263	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R100C(1)|p.R100S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAATTTCTACCGCACTGGGAA	0.522000													67	39					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59854864	59854864	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:59854864C>G	ENST00000256858.6	+	1	374	c.126C>G	c.(124-126)ggC>ggG	p.G42G	KIAA1468_ENST00000398130.2_Silent_p.G42G			Q9P260	K1468_HUMAN	KIAA1468	42							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCGGCTGGGCGCCGGAAGTG	0.647000													12	76					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160163587	160163587	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:160163587G>A	ENST00000368079.3	+	3	672	c.397G>A	c.(397-399)Gag>Aag	p.E133K	CASQ1_ENST00000368078.3_Missense_Mutation_p.E139K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	139						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAAGTCATTGAGTACGATGG	0.542000													13	61					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20020351	20020351	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:20020351T>A	ENST00000377340.2	-	12	1961	c.1930A>T	c.(1930-1932)Att>Ttt	p.I644F	CRNKL1_ENST00000536226.1_Missense_Mutation_p.I483F|CRNKL1_ENST00000377327.4_Missense_Mutation_p.I632F	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	644					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCGAATTTAATCCATGAGGTA	0.413000													46	53					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188090	81188090	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:81188090G>T	ENST00000456523.3	+	1	298	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	FGF5_ENST00000312465.7_Missense_Mutation_p.D38Y	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	38					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGCTGCCACTGATAGGAACCC	0.632000													9	31					0.00448238	0.00455956	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48274387	48274387	+	Missense_Mutation	SNP	C	C	G	rs72645324		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:48274387C>G	ENST00000225964.5	-	11	906	c.788G>C	c.(787-789)gGa>gCa	p.G263A		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	263	Triple-helical region.		G -> R (in OI1; mild form).|G -> V (in OI1; mild form).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCCCTTCATTCCAGGGAGGCC	0.532000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						17	23					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177574631	177574631	+	Silent	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:177574631T>C	ENST00000515098.1	+	10	1309	c.958T>C	c.(958-960)Tta>Cta	p.L320L	RMND5B_ENST00000542098.1_Silent_p.L307L|RMND5B_ENST00000313386.4_Silent_p.L320L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	320										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGGACGAGTTACCGGTGAG	0.587000													14	14					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115261316	115261316	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:115261316C>G	ENST00000438362.2	-	19	2783	c.2405G>C	c.(2404-2406)cGc>cCc	p.R802P	CSDE1_ENST00000358528.4_Missense_Mutation_p.R756P|CSDE1_ENST00000261443.5_Missense_Mutation_p.R725P|CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000339438.6_Missense_Mutation_p.R725P|CSDE1_ENST00000534699.1_Missense_Mutation_p.R756P|CSDE1_ENST00000530886.1_Missense_Mutation_p.R626P|CSDE1_ENST00000369530.1_Missense_Mutation_p.R771P	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	756					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.R756H(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCTTCAAGCGATTGACCAA	0.502000													5	40					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373395	62373395	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:62373395C>G	ENST00000266077.2	+	4	617	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	SLC2A4RG_ENST00000493772.1_Intron	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	189						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGAGCCCACCCTGAGAAAAAG	0.697000													5	26					0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39108315	39108315	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:39108315T>C	ENST00000302313.5	+	5	458	c.430T>C	c.(430-432)Tgg>Cgg	p.W144R	WDR48_ENST00000396258.3_Missense_Mutation_p.W62R|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	144					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AATATTCCTTTGGGATGTGAA	0.368000													24	100					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259769	16259769	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:16259769A>G	ENST00000205557.7	-	23	3046	c.3017T>C	c.(3016-3018)aTg>aCg	p.M1006T		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1006	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACCGCAGCCATGGAGGCAAA	0.647000													13	10					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419516	80419516	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:80419516G>A	ENST00000265080.4	+	16	2593	c.2526G>A	c.(2524-2526)gcG>gcA	p.A842A		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	842					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCCTGCAGCGGACACCACAG	0.527000													5	28					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379117	77379117	+	Silent	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:77379117G>T	ENST00000334955.8	+	3	1107	c.1080G>T	c.(1078-1080)tcG>tcT	p.S360S	RSBN1L_ENST00000445288.1_Silent_p.S90S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like							nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGGTGCATCGGTTATCCATG	0.433000													3	51					0.150653	0.151442	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520317	72520317	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:72520317C>T	ENST00000373208.1	+	22	3389	c.3389C>T	c.(3388-3390)cCt>cTt	p.P1130L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1127L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1127	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCCAGGACCCTGCAGATGCT	0.637000													8	34					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900856	86900856	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:86900856A>G	ENST00000376238.4	-	13	1499		c.e13+1		SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGTGATTATACCTCAAAACT	0.438000													9	6					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11097069	11097069	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr16:11097069A>G	ENST00000409790.1	+	11	1440	c.1210A>G	c.(1210-1212)Aaa>Gaa	p.K404E	CLEC16A_ENST00000409552.3_Missense_Mutation_p.K402E	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	404										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGATGAGGAGAAAGGGCCCAC	0.537000													6	13					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100976414	100976414	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:100976414G>C	ENST00000193391.7	-	10	1299	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	371					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						ATTCAAGGAAGAGTTCCCCAG	0.398000													11	53					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943201	98943201	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:98943201C>G	ENST00000254898.5	+	3	394	c.163C>G	c.(163-165)Cgg>Ggg	p.R55G	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R55G|MATN2_ENST00000521689.1_Missense_Mutation_p.R55G|MATN2_ENST00000524308.1_Missense_Mutation_p.R55G	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	55						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGAACAAGCGGGCAGACCT	0.493000													3	20					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697955	17697955	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:17697955T>C	ENST00000353383.1	+	3	2162	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	RAI1_ENST00000261641.6_Missense_Mutation_p.S565P	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	565						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGACGACATGTCCACCAAATC	0.627000													15	20					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727012	73727012	+	Silent	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:73727012C>G	ENST00000200181.3	+	9	1246	c.1059C>G	c.(1057-1059)tcC>tcG	p.S353S	ITGB4_ENST00000339591.3_Silent_p.S353S|ITGB4_ENST00000450894.3_Silent_p.S353S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.S353S|ITGB4_ENST00000449880.2_Silent_p.S353S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	353					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGACTCGTCCAACATCGTGG	0.607000													13	80					0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17488844	17488844	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr4:17488844C>G	ENST00000281243.5	-	7	824	c.645G>C	c.(643-645)tgG>tgC	p.W215C	QDPR_ENST00000508623.1_Missense_Mutation_p.G151A|QDPR_ENST00000428702.2_Missense_Mutation_p.W184C|QDPR_ENST00000513615.1_3'UTR	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	215					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TCCCTGTGATCCAGTCATGGA	0.458000													29	7					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484226	36484226	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:36484226C>G	ENST00000342292.4	-	11	5246	c.5226G>C	c.(5224-5226)gaG>gaC	p.E1742D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1742						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAACAGCTCTCTCCCTGGGTC	0.577000													10	19					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9994481	9994481	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:9994481G>C	ENST00000279544.3	+	4	472	c.408G>C	c.(406-408)tgG>tgC	p.W136C	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.W86C|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	136	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						TGAAAAGCTGGAGTGACAGTT	0.358000													16	24					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40024967	40024967	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:40024967A>C	ENST00000352035.2	-	28	3336	c.3206T>G	c.(3205-3207)tTc>tGc	p.F1069C	ACLY_ENST00000537919.1_Missense_Mutation_p.F798C|ACLY_ENST00000590151.1_Missense_Mutation_p.F1069C|ACLY_ENST00000393896.2_Missense_Mutation_p.F1059C|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Missense_Mutation_p.F1059C	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1069					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCACCAATGAACCCCATACT	0.408000													5	30					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2266191	2266191	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:2266191C>G	ENST00000268989.3	+	5	695	c.518C>G	c.(517-519)tCt>tGt	p.S173C	SGSM2_ENST00000574563.1_Missense_Mutation_p.S173C|SGSM2_ENST00000426855.2_Missense_Mutation_p.S173C	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	173	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ATCCTGGCCTCTCTTCTAGGT	0.632000													26	3					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33331199	33331199	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:33331199C>T	ENST00000270112.2	+	5	1151	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	264	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	p.T264M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGCCTTTCACGGTGGAGCCT	0.537000													21	146					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183105535	183105535	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:183105535G>C	ENST00000258341.4	+	25	4386	c.4129G>C	c.(4129-4131)Gtg>Ctg	p.V1377L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1377	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.V1377M(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATAGGCGTGTGAACGATAA	0.463000													15	19					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25785013	25785013	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:25785013G>T	ENST00000374343.4	+	6	963	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	262						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGACAAGGATGCCAAAAA	0.363000													30	61					3.65163e-15	4.0236e-15	1	1	0
MDN1	23195	broad.mit.edu	37	6	90354787	90354787	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr6:90354787G>C	ENST00000369393.3	-	101	16664	c.16549C>G	c.(16549-16551)Cgg>Ggg	p.R5517G	MDN1_ENST00000428876.1_Missense_Mutation_p.R5517G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5517	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R5517W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGCATTCCGGGCAGCCTGA	0.483000													5	43					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1293864	1293864	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr1:1293864G>C	ENST00000309212.6	-	1	51	c.21C>G	c.(19-21)atC>atG	p.I7M	MXRA8_ENST00000342753.4_Missense_Mutation_p.I7M|MXRA8_ENST00000477278.2_Intron|MXRA8_ENST00000445648.2_Missense_Mutation_p.I7M	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	7						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCAAAGCAGGATTCGGGATG	0.642000													3	13					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31856458	31856458	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:31856458C>G	ENST00000543095.2	-	8	1241	c.1057G>C	c.(1057-1059)Gat>Cat	p.D353H	HEATR5A_ENST00000439727.1_Missense_Mutation_p.D60H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D347H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.D347H|HEATR5A_ENST00000404677.3_Missense_Mutation_p.D353H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	347							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAGACGGCATCGATCTGAGTT	0.453000													9	51					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743657	148743657	+	Silent	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:148743657C>T	ENST00000514349.1	+	2	663	c.84C>T	c.(82-84)ttC>ttT	p.F28F	PCYOX1L_ENST00000274569.4_Silent_p.F118F			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	118					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCACTTCATGCTGGAGG	0.627000													8	14					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861968	57861968	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:57861968C>G	ENST00000228682.2	+	10	1360	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	GLI1_ENST00000546141.1_Missense_Mutation_p.I382M|GLI1_ENST00000543426.1_Missense_Mutation_p.I295M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	423					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGGTCCCATCAGGGAGGAAA	0.617000													8	29					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77631124	77631124	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:77631124G>C	ENST00000407578.2	-	79	13700	c.13434C>G	c.(13432-13434)tgC>tgG	p.C4478W	MYCBP2_ENST00000544440.2_Missense_Mutation_p.C4440W|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4440W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCCATACCTTGCAAATGGGAC	0.353000													11	58					0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37630287	37630287	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:37630287T>G	ENST00000328195.3	+	5	401	c.334T>G	c.(334-336)Ttc>Gtc	p.F112V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	112							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCCCAATCTCTTCATGCTGGA	0.423000													39	20					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3742045	3742045	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:3742045G>A	ENST00000324932.7	-	17	2577	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	NUP98_ENST00000397007.4_Silent_p.L736L|NUP98_ENST00000397004.4_Silent_p.L719L|NUP98_ENST00000359171.4_Silent_p.L719L|NUP98_ENST00000355260.3_Silent_p.L719L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	736					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAACCTTAGTGAGAATAATAC	0.294000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								4	8					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068432	27068432	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:27068432G>A	ENST00000268766.6	+	14	1927	c.1893G>A	c.(1891-1893)gaG>gaA	p.E631E	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	631						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TCCTGGCAGAGAGCGAAGTGT	0.627000													6	13					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123667	135123667	+	Splice_Site	SNP	G	G	T	rs139953339	by1000genomes	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:135123667G>T	ENST00000359035.3	+	4	432		c.e4-1		ZNF511_ENST00000463816.2_Splice_Site|ZNF511_ENST00000361518.5_Splice_Site|ZNF511_ENST00000368554.4_Splice_Site			Q8NB15	ZN511_HUMAN	zinc finger protein 511						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CTCCATTTCAGTATCAGTGCT	0.612000													63	20					1.08321e-29	1.2198e-29	1	1	0
PRKCH	5583	broad.mit.edu	37	14	61857985	61857985	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:61857985C>A	ENST00000332981.5	+	2	791	c.406C>A	c.(406-408)Ctt>Att	p.L136I	PRKCH_ENST00000555082.1_5'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	136					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGTAATAACCCTTACCGGGAG	0.353000													13	26					9.31168e-06	9.66401e-06	1	1	0
CLDN2	9075	broad.mit.edu	37	X	106171908	106171908	+	Silent	SNP	A	A	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:106171908A>G	ENST00000541806.1	+	2	969	c.450A>G	c.(448-450)ccA>ccG	p.P150P	CLDN2_ENST00000336803.1_Silent_p.P150P|CLDN2_ENST00000540876.1_Silent_p.P150P	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	150					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTACTCACCACTGGTGCCTG	0.488000													21	1					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711357	42711357	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:42711357G>C	ENST00000230882.4	+	7	857	c.667G>C	c.(667-669)Gat>Cat	p.D223H	GHR_ENST00000537449.1_Missense_Mutation_p.D36H|GHR_ENST00000357703.3_Missense_Mutation_p.D201H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	223	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTGAAAGTGGATAAGGAATA	0.403000													20	80					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124692599	124692599	+	Silent	SNP	G	G	A			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:124692599G>A	ENST00000311127.4	-	16	4039	c.3972C>T	c.(3970-3972)ctC>ctT	p.L1324L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1324						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CCGTCATCTGGAGGAGGTTTT	0.478000													5	42					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172332	64172332	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr18:64172332C>T	ENST00000262150.2	-	12	2328	c.2036G>A	c.(2035-2037)aGg>aAg	p.R679K	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	679					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTATAGGCTCCTGATCTCAGC	0.488000													97	66					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607623	27607636	+	Frame_Shift_Del	DEL	GCTTGTCAGAGGCT	GCTTGTCAGAGGCT	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:27607623_27607636delGCTTGTCAGAGGCT	ENST00000344034.4	-	5	993_1006	c.729_742delAGCCTCTGACAAGC	c.(727-744)tcagcctctgacaagctgfs	p.ASDKL244fs	PPM1G_ENST00000350803.4_Frame_Shift_Del_p.ASDKL244fs	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	244					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACTCGAGGCAGCTTGTCAGAGGCTGAAGAGCAGG	0.565													41	23	---	---	---	---					
ST6GAL2	84620	broad.mit.edu	37	2	107459765	107459779	+	In_Frame_Del	DEL	CTTCTGCAGGCGCGG	CTTCTGCAGGCGCGG	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:107459765_107459779delCTTCTGCAGGCGCGG	ENST00000409382.3	-	2	1265_1279	c.655_669delCCGCGCCTGCAGAAG	c.(655-669)ccgcgcctgcagaagdel	p.PRLQK219del	ST6GAL2_ENST00000409087.3_In_Frame_Del_p.PRLQK219del|ST6GAL2_ENST00000361686.4_In_Frame_Del_p.PRLQK219del	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	219					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R220C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTTCATCGCCTTCTGCAGGCGCGGGTTCAGCATT	0.647													12	3	---	---	---	---					
TMEM169	92691	broad.mit.edu	37	2	216964790	216964790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr2:216964790delG	ENST00000454545.1	+	4	745	c.419delG	c.(418-420)aggfs	p.R140fs	TMEM169_ENST00000406027.2_Frame_Shift_Del_p.R140fs|TMEM169_ENST00000437356.2_Frame_Shift_Del_p.R140fs|TMEM169_ENST00000295658.4_Frame_Shift_Del_p.R140fs	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	140						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTCATCAAGGGAAACGACG	0.532													34	5	---	---	---	---					
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398													7	50	---	---	---	---					
UBA7	7318	broad.mit.edu	37	3	49847283	49847300	+	In_Frame_Del	DEL	GAAGAGTTCTTCAAACTC	GAAGAGTTCTTCAAACTC	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:49847283_49847300delGAAGAGTTCTTCAAACTC	ENST00000333486.3	-	15	2010_2027	c.1852_1869delGAGTTTGAAGAACTCTTC	c.(1852-1869)gagtttgaagaactcttcdel	p.EFEELF618del		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	618					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGACAGTCGGAAGAGTTCTTCAAACTCATGCCGGGCC	0.583													10	72	---	---	---	---					
IL12A-AS1	101928376	broad.mit.edu	37	3	159820697	159820698	+	RNA	INS	-	-	A	rs145340132	by1000genomes	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr3:159820697_159820698insA	ENST00000497452.1	-	0	517																											TTGGAacagtgaaaaaaaaaag	0.277													3	5	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14363968	14363972	+	Frame_Shift_Del	DEL	ACTTG	ACTTG	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:14363968_14363972delACTTG	ENST00000344204.4	+	14	2543_2547	c.2519_2523delACTTG	c.(2518-2523)aacttgfs	p.NL840fs	TRIO_ENST00000537187.1_Frame_Shift_Del_p.NL840fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.NL791fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	840					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCATGAACAACTTGACTTTTGACG	0.493													10	37	---	---	---	---					
TNPO1	3842	broad.mit.edu	37	5	72189008	72189019	+	In_Frame_Del	DEL	CCGTACTGTGAA	CCGTACTGTGAA	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr5:72189008_72189019delCCGTACTGTGAA	ENST00000337273.5	+	16	2257_2268	c.1831_1842delCCGTACTGTGAA	c.(1831-1842)ccgtactgtgaadel	p.PYCE611del	TNPO1_ENST00000454282.1_In_Frame_Del_p.PYCE561del|TNPO1_ENST00000506351.2_In_Frame_Del_p.PYCE603del|TNPO1_ENST00000523768.1_In_Frame_Del_p.PYCE561del	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	611					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.P603Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TGGATTCCTTCCGTACTGTGAACCTGTGTATC	0.401													28	98	---	---	---	---					
PMS2P4	5382	broad.mit.edu	37	7	66762353	66762354	+	RNA	INS	-	-	G			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr7:66762353_66762354insG	ENST00000414507.1	-	0	184																											ggcatgaacccggggggcggag	0.421													3	4	---	---	---	---					
NEFM	4741	broad.mit.edu	37	8	24772250	24772264	+	In_Frame_Del	DEL	AAGAGATCGCCGAGT	AAGAGATCGCCGAGT	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:24772250_24772264delAAGAGATCGCCGAGT	ENST00000221166.5	+	1	1726_1740	c.944_958delAAGAGATCGCCGAGT	c.(943-960)gaagagatcgccgagtac>gac	p.315_320EEIAEY>D	NEFM_ENST00000437366.2_In_Frame_Del_p.315_320EEIAEY>D|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_In_Frame_Del_p.315_320EEIAEY>D			P07197	NFM_HUMAN	neurofilament, medium polypeptide	315	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCGCCAAGGAAGAGATCGCCGAGTACCGGCGCCA	0.633													7	3	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTCCTTGAATTTTTTTTTAT	0.453													8	177	---	---	---	---					
UNC13B	10497	broad.mit.edu	37	9	35403841	35403858	+	In_Frame_Del	DEL	TGTGATGCCTCTGAGGGA	TGTGATGCCTCTGAGGGA	-	rs78483173		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr9:35403841_35403858delTGTGATGCCTCTGAGGGA	ENST00000378495.3	+	39	4809_4826	c.4587_4604delTGTGATGCCTCTGAGGGA	c.(4585-4605)gctgtgatgcctctgagggat>gct	p.VMPLRD1530del	UNC13B_ENST00000378496.4_In_Frame_Del_p.VMPLRD1549del|UNC13B_ENST00000396787.1_In_Frame_Del_p.VMPLRD1561del	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1530	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGCTGGCTGTGATGCCTCTGAGGGATGTCACAGCC	0.573													15	18	---	---	---	---					
UNC5B	219699	broad.mit.edu	37	10	72972745	72972745	+	Translation_Start_Site	DEL	G	G	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:72972745delG	ENST00000335350.6	+	0	419				UNC5B_ENST00000373192.4_Start_Codon_Del	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)						apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCGGGAGCATGGGGGCCCGGA	0.761													2	4	---	---	---	---					
FAM160B1	57700	broad.mit.edu	37	10	116621095	116621095	+	Splice_Site	DEL	T	T	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr10:116621095delT	ENST00000369248.4	+	16	2527		c.e16+2		FAM160B1_ENST00000369250.3_Splice_Site	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1											NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AGGCCCTATGTAAGTTAGTGT	0.368													19	51	---	---	---	---					
CCKBR	887	broad.mit.edu	37	11	6292266	6292266	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:6292266delC	ENST00000525462.1	+	4	1047	c.1044delC	c.(1042-1044)tgcfs	p.C348fs	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Frame_Shift_Del_p.C279fs|CCKBR_ENST00000532715.1_Frame_Shift_Del_p.C195fs			P32239	GASR_HUMAN	cholecystokinin B receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACGGGCGTTGCCGGCCTGAGA	0.662													16	20	---	---	---	---					
ZNF408	79797	broad.mit.edu	37	11	46726111	46726119	+	In_Frame_Del	DEL	CAGTGGAGC	CAGTGGAGC	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:46726111_46726119delCAGTGGAGC	ENST00000311764.2	+	5	1091_1099	c.861_869delCAGTGGAGC	c.(859-870)ggcagtggagcc>ggc	p.SGA288del		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCCAGATGGCAGTGGAGCCAGTTTCTCA	0.593													7	14	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268417	65268431	+	RNA	DEL	GTCTGAAGCTTTTGA	GTCTGAAGCTTTTGA	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:65268417_65268431delGTCTGAAGCTTTTGA	ENST00000534336.1	+	0	3185_3199					NR_002819.2																						CATGAATCTTGTCTGAAGCTTTTGAGGGCAGACTG	0.409													34	17	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65271182	65271191	+	RNA	DEL	TCTTCTCTAA	TCTTCTCTAA	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:65271182_65271191delTCTTCTCTAA	ENST00000534336.1	+	0	5950_5959					NR_002819.2																						TGGGGGGGATTCTTCTCTAATCTTTCAGAA	0.348													7	34	---	---	---	---					
ROBO4	54538	broad.mit.edu	37	11	124757040	124757040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr11:124757040delG	ENST00000306534.3	-	15	2753	c.2268delC	c.(2266-2268)cccfs	p.P756fs	ROBO4_ENST00000533054.1_Frame_Shift_Del_p.P611fs|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	756	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGGACTGCAGGGGCTAAGGA	0.657													15	19	---	---	---	---					
SLCO1C1	53919	broad.mit.edu	37	12	20852615	20852615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:20852615delG	ENST00000381552.1	+	2	473	c.105delG	c.(103-105)aagfs	p.K35fs	SLCO1C1_ENST00000266509.2_Frame_Shift_Del_p.K35fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.K35fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.K35fs|SLCO1C1_ENST00000545102.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	35					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CAGAAGAAAAGCAACCATGCT	0.373													13	32	---	---	---	---					
SLCO1C1	53919	broad.mit.edu	37	12	20864418	20864418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:20864418delA	ENST00000381552.1	+	5	871	c.503delA	c.(502-504)gaafs	p.E168fs	SLCO1C1_ENST00000266509.2_Frame_Shift_Del_p.E168fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.E168fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.E168fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Del_p.E50fs			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	168					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCAGTTATGGAAAAATCAAAA	0.343													27	42	---	---	---	---					
SLC38A2	54407	broad.mit.edu	37	12	46764395	46764395	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:46764395delA	ENST00000256689.5	-	4	658	c.214delT	c.(214-216)tccfs	p.S72fs	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	72	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATTCCAAAGGAAGTAGTACCT	0.373													31	53	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101777390	101777405	+	Frame_Shift_Del	DEL	CTCCCAATGATCATAG	CTCCCAATGATCATAG	-	rs139767850	byFrequency	TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr12:101777390_101777405delCTCCCAATGATCATAG	ENST00000261637.4	+	60	8173_8188	c.7999_8014delCTCCCAATGATCATAG	c.(7999-8016)ctcccaatgatcatagctfs	p.LPMIIA2667fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2667					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAAGCCGTATCTCCCAATGATCATAGCTCCTTTGTT	0.440													22	70	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48881488	48881489	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr13:48881488_48881489insAG	ENST00000267163.4	+	2	348_349	c.210_211insAG	c.(211-213)agafs	p.R71fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	71					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)|p.V70fs*39(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATCATGTCAGAGAGAGAGC	0.312		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			50	11	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20876465	20876466	+	Frame_Shift_Ins	INS	-	-	GGATATTC			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:20876465_20876466insGGATATTC	ENST00000262715.5	-	2	173_174	c.133_134insGAATATCC	c.(133-135)ctcfs	p.L45fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.L45fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	45					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTTCAAGGAGAGGATATCTGAG	0.520													21	22	---	---	---	---					
XRCC3	7517	broad.mit.edu	37	14	104165908	104165909	+	In_Frame_Ins	INS	-	-	GTGTCC			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr14:104165908_104165909insGTGTCC	ENST00000553264.1	-	6	1362_1363	c.566_567insGGACAC	c.(565-567)acc>acGGACACc	p.189_189T>TDT	KLC1_ENST00000557450.1_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000555836.1_Intron|XRCC3_ENST00000352127.7_In_Frame_Ins_p.189_189T>TDT|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000445556.1_In_Frame_Ins_p.189_189T>TDT|XRCC3_ENST00000555055.1_In_Frame_Ins_p.189_189T>TDT|XRCC3_ENST00000554913.1_In_Frame_Ins_p.189_189T>TDT|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000554974.1_5'UTR|KLC1_ENST00000452929.2_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	189					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		ACTCCAACAAGGTGTCCTGTGG	0.584								Direct reversal of damage;Homologous recombination					13	10	---	---	---	---					
MYO9A	4649	broad.mit.edu	37	15	72338831	72338843	+	Frame_Shift_Del	DEL	ATAGCCCCAGGAT	ATAGCCCCAGGAT	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr15:72338831_72338843delATAGCCCCAGGAT	ENST00000356056.5	-	2	534_546	c.62_74delATCCTGGGGCTAT	c.(61-75)tatcctggggctattfs	p.YPGAI21fs	MYO9A_ENST00000564571.1_Frame_Shift_Del_p.YPGAI21fs|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.YPGAI21fs|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.YPGAI21fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	21	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCTTCTGAAATAGCCCCAGGATATATCCGTAA	0.394													14	87	---	---	---	---					
H3F3B	3021	broad.mit.edu	37	17	73774771	73774771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:73774771delC	ENST00000254810.4	-	4	448	c.316delG	c.(316-318)gaafs	p.E106fs	H3F3B_ENST00000587560.1_Frame_Shift_Del_p.E106fs|H3F3B_ENST00000592643.1_Frame_Shift_Del_p.S81fs|H3F3B_ENST00000586607.1_Frame_Shift_Del_p.E106fs|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000589599.1_Frame_Shift_Del_p.E106fs|H3F3B_ENST00000591890.1_3'UTR	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	106					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGTATCTTCGAACAGACCC	0.582													52	54	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808240	77808241	+	In_Frame_Ins	INS	-	-	GTG	rs3833850		TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr17:77808240_77808241insGTG	ENST00000269397.4	-	5	1377_1378	c.1200_1201insCAC	c.(1198-1203)cacgcc>cacCACgcc	p.400_401insH		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGCCGACGGCgtggtggtggt	0.703													5	10	---	---	---	---					
SPO11	23626	broad.mit.edu	37	20	55906993	55906993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr20:55906993delA	ENST00000371263.3	+	2	345	c.236delA	c.(235-237)gaafs	p.E79fs	SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	79					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAGCTGGGAAAACATAAAG	0.303								Editing and processing nucleases					20	89	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736					NR_027270.1																						CTCTGTGCTTTCTGATGTGCTGCT	0.407													3	3	---	---	---	---					
RCAN1	1827	broad.mit.edu	37	21	35987116	35987116	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:35987116delG	ENST00000313806.4	-	1	325	c.195delC	c.(193-195)cccfs	p.P65fs		NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	65					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGTGGCGCTGGGCAGGTCCT	0.746													2	4	---	---	---	---					
RUNX1	861	broad.mit.edu	37	21	36171742	36171755	+	Frame_Shift_Del	DEL	GTTGGATCTGCCTT	GTTGGATCTGCCTT	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr21:36171742_36171755delGTTGGATCTGCCTT	ENST00000344691.4	-	5	2306_2319	c.729_742delAAGGCAGATCCAAC	c.(727-744)acaaggcagatccaaccafs	p.RQIQP244fs	RUNX1_ENST00000399240.1_Frame_Shift_Del_p.RQIQP180fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.RQIQP259fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.RQIQP271fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.RQIQP271fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	244	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGTGGGGATGGTTGGATCTGCCTTGTATCTGAAG	0.458			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								50	16	---	---	---	---					
SMC1B	27127	broad.mit.edu	37	22	45809417	45809418	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chr22:45809417_45809418delTT	ENST00000357450.4	-	1	30_31	c.31_32delAA	c.(31-33)aatfs	p.N11fs	SMC1B_ENST00000404354.3_Frame_Shift_Del_p.N11fs	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	11					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGACTTGAAATTTTCCACAAGC	0.649													5	5	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123197803	123197813	+	Frame_Shift_Del	DEL	GAGTTCACAAT	GAGTTCACAAT	-			TCGA-XF-A9ST-01A-11D-A42E-08	TCGA-XF-A9ST-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562ad5d-3390-4a69-b6b8-9de89a45a8f4	e11d1434-d7df-46a5-9da5-9dc08e5a9c4c	g.chrX:123197803_123197813delGAGTTCACAAT	ENST00000371160.1	+	20	2217_2227	c.1927_1937delGAGTTCACAAT	c.(1927-1938)gagttcacaatcfs	p.EFTI643fs	STAG2_ENST00000354548.5_Frame_Shift_Del_p.EFTI574fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.EFTI643fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.EFTI643fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.EFTI643fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.EFTI643fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	643					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTGTAATGAAGAGTTCACAATCTTCAACAGA	0.360													17	2	---	---	---	---					
