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
AHNAK2	113146	broad.mit.edu	37	14	105411692	105411692	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr14:105411692C>T	ENST00000333244.5	-	7	10215	c.10096G>A	c.(10096-10098)Gag>Aag	p.E3366K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3366						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGACCTCCAGGTCCACA	0.657000													48	196					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722562	53722562	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:53722562G>A	ENST00000536324.2	-	3	947	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	SP7_ENST00000537210.2_Missense_Mutation_p.H204Y|SP7_ENST00000303846.3_Missense_Mutation_p.H222Y	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGCAAGACATGCTGGGGCCCT	0.602000													31	34					0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69140440	69140440	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:69140440C>T	ENST00000398004.2	+	1	555	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	95						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TAACCTTTCTCTGCAGAACAA	0.557000													45	48					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47127263	47127263	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:47127263C>T	ENST00000291294.2	-	2	353	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	PTGIR_ENST00000596260.1_Missense_Mutation_p.A74T|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	74					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	CGCGCATAGGCCACGAACACG	0.726000													6	2					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30969544	30969544	+	Silent	SNP	G	G	A	rs116856132	byFrequency	TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr18:30969544G>A	ENST00000383096.3	-	5	350	c.168C>T	c.(166-168)aaC>aaT	p.N56N	CCDC178_ENST00000402325.1_Silent_p.N56N|CCDC178_ENST00000583930.1_Silent_p.N56N|CCDC178_ENST00000406524.2_Silent_p.N56N|CCDC178_ENST00000579947.1_Silent_p.N56N|CCDC178_ENST00000579916.1_Silent_p.N56N|CCDC178_ENST00000300227.8_Silent_p.N56N|CCDC178_ENST00000403303.1_Silent_p.N56N					coiled-coil domain containing 178																		AACCTTCACTGTTCTCCTTAG	0.274000													3	52					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10702931	10702931	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:10702931C>T	ENST00000377022.3	-	20	4464	c.4147G>A	c.(4147-4149)Gag>Aag	p.E1383K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCGGTGCTCTCGTTACCCACG	0.667000													7	26					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74695020	74695020	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr16:74695020G>A	ENST00000361070.4	-	2	425	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	RFWD3_ENST00000571750.1_Missense_Mutation_p.H110Y	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	110					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGGATGGTGTGATTACCATCA	0.468000													19	68					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157027	4157027	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:4157027C>T	ENST00000078445.2	+	3	339	c.192C>T	c.(190-192)ctC>ctT	p.L64L	CREB3L3_ENST00000252587.3_Silent_p.L54L|CREB3L3_ENST00000602257.1_Silent_p.L64L|CREB3L3_ENST00000595923.1_Silent_p.L63L|CREB3L3_ENST00000602147.1_Silent_p.L64L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	64					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGACTTCCTCAGCTCCATCC	0.592000													8	43					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926911	43926911	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:43926911G>C	ENST00000282406.4	+	8	924	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	272						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTGCCACAGATGGTGGCAT	0.488000													14	47					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874331	74874331	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr14:74874331G>C	ENST00000331628.3	-	4	871	c.624C>G	c.(622-624)ttC>ttG	p.F208L	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.F208L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	208					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTGTGGCTAGGAAGAGGGCCC	0.627000													21	32					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283455	238283455	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:238283455G>A	ENST00000295550.4	-	8	3731	c.3279C>T	c.(3277-3279)aaC>aaT	p.N1093N	COL6A3_ENST00000346358.4_Silent_p.N893N|COL6A3_ENST00000392003.2_Silent_p.N686N|COL6A3_ENST00000392004.3_Silent_p.N887N|COL6A3_ENST00000347401.3_Silent_p.N892N|COL6A3_ENST00000409809.1_Silent_p.N887N|COL6A3_ENST00000353578.4_Silent_p.N887N|COL6A3_ENST00000472056.1_Silent_p.N486N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1093	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCGGACAGCGTTGACGACGT	0.647000													12	23					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867645	45867645	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr20:45867645G>C	ENST00000311275.7	-	15	2715	c.2462C>G	c.(2461-2463)tCa>tGa	p.S821*	ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.S841*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.S841*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.S758*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.S841*|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.S816*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.S821*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.S821*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.S769*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.S848*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.S821*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.S816*|ZMYND8_ENST00000458360.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	821							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTTACTTGATGAGTTCCACAC	0.607000													24	77					0	0	1	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956324	48956324	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:48956324C>T	ENST00000408959.2	-	1	494	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_5'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		GCTTGACCGGCGTCGGCCCGC	0.721000													6	7					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47178647	47178647	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:47178647G>A	ENST00000395460.2	+	6	563	c.525G>A	c.(523-525)ccG>ccA	p.P175P	C11orf49_ENST00000536126.1_Silent_p.P78P|C11orf49_ENST00000378615.3_Silent_p.P175P|C11orf49_ENST00000543718.1_Silent_p.P91P|C11orf49_ENST00000378618.2_Silent_p.P175P|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000278460.7_Silent_p.P175P	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	175								p.P175P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TGATTGTGCCGACGTCGTCCA	0.637000													7	43					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26370290	26370290	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:26370290C>T	ENST00000407008.3	+	1	1109	c.391C>T	c.(391-393)Cat>Tat	p.H131Y	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Missense_Mutation_p.H131Y	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	131					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)		GCACTCGCATCATCCACAGCA	0.557000													51	98					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46111887	46111887	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:46111887G>C	ENST00000374366.3	-	11	2424	c.1959C>G	c.(1957-1959)atC>atG	p.I653M	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.I727M|ZFAND4_ENST00000374371.2_3'UTR	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	727							zinc ion binding										GGAAGAGTTAGATTTTTGGAA	0.388000													12	89					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309471	37309471	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:37309471G>A	ENST00000356725.4	-	5	1895	c.1775C>T	c.(1774-1776)aCa>aTa	p.T592I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCCATAGTCTGTCCATTCACA	0.338000													22	108					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387129	70387129	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chrX:70387129C>T	ENST00000374051.3	+	6	1444	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G	NLGN3_ENST00000536169.1_Silent_p.G354G|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.G394G	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	394					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGGAGCAGGGCGAGTTCCTCA	0.562000													6	16					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135377133	135377133	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:135377133C>T	ENST00000354042.4	-	11	1847	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	386						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACAGTACGGTCATCAGGATGA	0.428000													5	48					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7320373	7320373	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:7320373G>C	ENST00000317900.5	-	2	240	c.70C>G	c.(70-72)Caa>Gaa	p.Q24E	SPAG11B_ENST00000359758.5_Missense_Mutation_p.Q24E|SPAG11B_ENST00000361111.2_Missense_Mutation_p.Q24E|SPAG11B_ENST00000297498.2_Missense_Mutation_p.Q24E|SPAG11B_ENST00000398462.2_Missense_Mutation_p.Q24E	NM_058203.2	NP_478110.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	24					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGTCTGGCTTGAGACGATCCT	0.587000													11	154					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229643975	229643975	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:229643975G>A	ENST00000261396.3	-	1	113	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	NUP133_ENST00000537506.1_Intron|NUP133_ENST00000366678.3_Missense_Mutation_p.P8S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	8					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGGTCCGCGGAGAAGGGGCG	0.706000													3	4					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170722896	170722896	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:170722896C>T	ENST00000523189.1	+	27	3212	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1016					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCAGTATTTCAGTGAACTGA	0.532000			T	TRD@	ALL								34	9					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192042	66192042	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:66192042T>C	ENST00000311034.2	+	7	1857	c.1681T>C	c.(1681-1683)Tac>Cac	p.Y561H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	561					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TACCAAGACTTACTTTGCCCA	0.572000													33	118					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146202864	146202864	+	RNA	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:146202864C>G	ENST00000426361.2	-	0	1320					NR_023392.1															endometrium(1)	1						TATGAATTCTCTGATGCTGAA	0.398000													4	2					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183551543	183551543	+	Missense_Mutation	SNP	A	A	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:183551543A>C	ENST00000317096.4	-	8	959	c.899T>G	c.(898-900)tTc>tGc	p.F300C	PARL_ENST00000311101.5_Missense_Mutation_p.F250C|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	300					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGGAAGGAAAATAATGGC	0.478000													11	37					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762632	15762632	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:15762632C>T	ENST00000399451.2	-	8	1063	c.696G>A	c.(694-696)atG>atA	p.M232I	ANKRD28_ENST00000383777.1_Missense_Mutation_p.M265I|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	232						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTGGTTCATTCATCTATTAGA	0.343000													61	129					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107726182	107726182	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:107726182C>T	ENST00000445937.1	+	11	2186	c.1925C>T	c.(1924-1926)tCt>tTt	p.S642F	OXR1_ENST00000452423.2_Missense_Mutation_p.S132F|OXR1_ENST00000517566.2_Missense_Mutation_p.S642F|OXR1_ENST00000442977.2_Missense_Mutation_p.S643F|OXR1_ENST00000312046.6_Missense_Mutation_p.S635F|OXR1_ENST00000531443.1_Missense_Mutation_p.S642F	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	643					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATTGAGGATTCTAGTAATCAA	0.343000													16	101					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177570949	177570949	+	Silent	SNP	C	C	T	rs140368602		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:177570949C>T	ENST00000515098.1	+	8	885	c.534C>T	c.(532-534)gcC>gcT	p.A178A	RMND5B_ENST00000542098.1_Silent_p.A165A|RMND5B_ENST00000313386.4_Silent_p.A178A			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	178	CTLH.									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)			CCAGATGGGCCGTCTCCCACA	0.627000													5	61					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440966	99440966	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:99440966C>T	ENST00000287042.4	+	2	1109	c.759C>T	c.(757-759)ctC>ctT	p.L253L	KCNS2_ENST00000521839.1_Silent_p.L253L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	253						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTGACTTCCTCAAGTTCTTCA	0.522000													165	46					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32573844	32573844	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:32573844G>A	ENST00000319778.6	-	10	1828	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	EPC1_ENST00000375110.2_Missense_Mutation_p.S459F|EPC1_ENST00000263062.8_Missense_Mutation_p.S509F	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	509					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTAGAGAAAGATTTGTCCGA	0.418000													84	84					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677005	219677005	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:219677005G>A	ENST00000258415.4	+	3	934	c.507G>A	c.(505-507)gcG>gcA	p.A169A		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	169			A -> V (in dbSNP:rs59443548).		bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGAAGCCAGCGGAAGCAGCGC	0.562000													40	40					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389311	129389311	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:129389311C>T	ENST00000393238.3	-	4	1713	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	TMCC1_ENST00000432054.2_Missense_Mutation_p.G134E|TMCC1_ENST00000329333.5_Missense_Mutation_p.G279E|TMCC1_ENST00000426664.2_Missense_Mutation_p.G344E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	458						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGCATCAAATCCTGAGCTCTG	0.522000													26	35					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31360934	31360934	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:31360934G>C	ENST00000349752.5	-	1	658	c.19C>G	c.(19-21)Cgg>Ggg	p.R7G	GALNT14_ENST00000356174.3_Missense_Mutation_p.R7G|GALNT14_ENST00000324589.5_Missense_Mutation_p.R7G	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	7						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGAACCAGCCGACGAGTCAGG	0.667000													14	40					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1808982	1808982	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr16:1808982G>A	ENST00000250894.4	+	10	1386	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	MAPK8IP3_ENST00000356010.5_Intron	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	410					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCCTAGTGCGCGATGATTTC	0.607000													3	42					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585879	41585879	+	Silent	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:41585879C>A	ENST00000262415.3	+	16	2565	c.2493C>A	c.(2491-2493)ggC>ggA	p.G831G	DHX8_ENST00000540306.1_Silent_p.G831G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	831	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTCCACCAGGCAGCAGAAAGG	0.498000													3	34					0.004672	0.00473827	1	1	0
SLC9A6	10479	broad.mit.edu	37	X	135095108	135095108	+	Splice_Site	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chrX:135095108G>A	ENST00000370695.4	+	8	1077	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	SLC9A6_ENST00000370698.3_Splice_Site_p.V316M|SLC9A6_ENST00000370701.1_Splice_Site_p.V296M	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	316					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACAGTCTTACGTGACAAAGTT	0.423000													15	101					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676764	150676764	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:150676764G>A	ENST00000368993.2	-	11	965	c.860C>T	c.(859-861)tCt>tTt	p.S287F	HORMAD1_ENST00000361824.2_Missense_Mutation_p.S287F|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S207F|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S280F			Q86X24	HORM1_HUMAN	HORMA domain containing 1	287					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCAAGTTCAGAAGATGCAGG	0.299000													6	41					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183904001	183904001	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:183904001G>A	ENST00000429586.2	+	1	191	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ABCF3_ENST00000292808.5_Silent_p.A2A|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	2							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAACATGGCGACTTGCGCCG	0.642000													34	21					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065223	49065223	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:49065223C>G	ENST00000326739.4	-	5	490	c.451G>C	c.(451-453)Ggg>Cgg	p.G151R		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	151	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AAGCGGCTCCCCATCCGGCCT	0.572000													15	34					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679589	73679589	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:73679589G>T	ENST00000264448.6	+	8	6043	c.5932G>T	c.(5932-5934)Ggg>Tgg	p.G1978W	ALMS1_ENST00000377715.1_Missense_Mutation_p.G1978W|ALMS1_ENST00000409009.1_Missense_Mutation_p.G1936W	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1978	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCAGAAGACTGGGATACCAAT	0.433000													30	47					8.4185e-14	8.95053e-14	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27816732	27816732	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:27816732C>T	ENST00000261716.3	+	9	1225	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	TAOK1_ENST00000536202.1_Missense_Mutation_p.H236Y	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	236	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)			TGCCTTATATCACATAGCCCA	0.343000													8	66					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144783877	144783877	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:144783877G>C	ENST00000367545.3	+	22	2941	c.2941G>C	c.(2941-2943)Gat>Cat	p.D981H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	981					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTTCATCCTGATGTAGAAAA	0.353000													29	12					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171695	51171695	+	Silent	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:51171695G>T	ENST00000293441.1	-	22	3540	c.3522C>A	c.(3520-3522)ggC>ggA	p.G1174G	SHANK1_ENST00000359082.3_Silent_p.G1165G|SHANK1_ENST00000391813.1_Silent_p.G561G|SHANK1_ENST00000391814.1_Silent_p.G1182G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1174					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTGCTGCTGCCCTGGCTGC	0.761000													8	57					0.00307968	0.00313448	1	1	0
KIAA0907	22889	broad.mit.edu	37	1	155903469	155903469	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:155903469G>A	ENST00000368320.3	-	2	235	c.210C>T	c.(208-210)ctC>ctT	p.L70L	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Silent_p.L70L|KIAA0907_ENST00000368319.3_Silent_p.L70L			Q7Z7F0	K0907_HUMAN	KIAA0907	70										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTTTGCCATGAGCATGGCAT	0.507000													19	22					0	0	1	0	0
SGPL1	8879	broad.mit.edu	37	10	72636365	72636365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:72636365C>T	ENST00000373202.3	+	14	1713	c.1513C>T	c.(1513-1515)Cga>Tga	p.R505*		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	505					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)	AAAGGACATTCGAGAATCTGT	0.398000													14	92					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100333356	100333356	+	RNA	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:100333356C>G	ENST00000542585.1	+	0	215				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAGAAGCCTCCGGACCAGAA	0.478000													3	9					0	0	1	0	0
NME2	4831	broad.mit.edu	37	17	49231798	49231798	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:49231798G>A	ENST00000555572.1	+	2	240	c.64G>A	c.(64-66)Gat>Aat	p.D22N	NME1_ENST00000511355.1_Intron|NME2_ENST00000376392.6_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.D22N|NME1_ENST00000393196.3_Intron|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.D22N|NME1_ENST00000480143.1_Missense_Mutation_p.D22N|NME1-NME2_ENST00000393198.3_Intron|NME2_ENST00000393193.2_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.D22N					NME/NM23 nucleoside diphosphate kinase 2											endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTCAAGCTGTGATACAGGGTA	0.478000													42	27					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950817	198950817	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:198950817G>A	ENST00000428675.1	+	2	2974	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R761H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	859					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCACAGAAGCGCAGTCTTTCA	0.438000													9	40					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3208285	3208285	+	Silent	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:3208285G>C	ENST00000355072.5	+	43	5926	c.5781G>C	c.(5779-5781)ctG>ctC	p.L1927L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1927					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCAAGATCTGATCAGCCTTT	0.468000													35	36					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48685349	48685349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:48685349G>A	ENST00000544264.1	-	21	7349	c.7069C>T	c.(7069-7071)Cga>Tga	p.R2357*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.R2352*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2352					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCTGGCCTCGAAAGAGGTTG	0.632000													32	81					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203684592	203684592	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:203684592C>T	ENST00000418208.1	-	3	458	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	ICA1L_ENST00000425178.1_Silent_p.L130L|ICA1L_ENST00000392237.2_Silent_p.L130L|ICA1L_ENST00000358299.2_Silent_p.L130L			Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	0	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCTTGCTTCAGACGAGACA	0.428000													20	16					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328733	23328733	+	Missense_Mutation	SNP	C	C	G	rs112801464	by1000genomes	TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:23328733C>G	ENST00000597761.2	+	4	1086	c.887C>G	c.(886-888)tCc>tGc	p.S296C		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TTTAACCAGTCCTCAAACCTT	0.343000													3	54					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60878805	60878805	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr20:60878805T>C	ENST00000253003.2	+	2	227	c.181T>C	c.(181-183)Tgg>Cgg	p.W61R	ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	61	Interaction with PSMD1.|PH.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TCACTTCTGCTGGAAGGACAG	0.607000													14	56					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680487	128680487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:128680487G>A	ENST00000527786.2	+	9	1452	c.963G>A	c.(961-963)tgG>tgA	p.W321*	FLI1_ENST00000344954.6_Nonsense_Mutation_p.W288*|FLI1_ENST00000525560.1_Nonsense_Mutation_p.W128*|FLI1_ENST00000281428.8_Nonsense_Mutation_p.W255*|FLI1_ENST00000534087.2_Nonsense_Mutation_p.W288*	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCAGGCGCTGGGGCGAGCGGA	0.557000			T	EWSR1	Ewing sarcoma								5	17					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593683	125593683	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:125593683C>T	ENST00000504087.1	-	4	1786	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R71Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	250										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTATTTTTCGAAAACCTAA	0.318000													4	12					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981267	42981267	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr22:42981267C>T	ENST00000339677.6	-	3	505	c.506G>A	c.(505-507)gGg>gAg	p.G169E	POLDIP3_ENST00000252115.5_3'UTR|POLDIP3_ENST00000348657.2_3'UTR			Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	0					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						AGACCTGCTCCCCACCCAGGC	0.627000													14	3					0	0	1	0	0
PRRG4	79056	broad.mit.edu	37	11	32874936	32874936	+	Missense_Mutation	SNP	G	G	C	rs147146504		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:32874936G>C	ENST00000257836.3	+	6	797	c.544G>C	c.(544-546)Gag>Cag	p.E182Q		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	182						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GCCTTCTGTGGAGGATGCAGG	0.517000													15	32					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2186096	2186096	+	Splice_Site	SNP	A	A	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr9:2186096A>T	ENST00000382203.1	+	32	4671	c.4462A>T	c.(4462-4464)Atc>Ttc	p.I1488F	SMARCA2_ENST00000382186.1_Splice_Site_p.I152F|SMARCA2_ENST00000324954.5_Splice_Site_p.I134F|SMARCA2_ENST00000382185.1_Splice_Site_p.I134F|SMARCA2_ENST00000382194.1_Splice_Site_p.I1470F|SMARCA2_ENST00000349721.2_Splice_Site_p.I1488F|SMARCA2_ENST00000357248.2_Splice_Site_p.I1470F|SMARCA2_ENST00000302401.3_Splice_Site_p.I176F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1488	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GACCATTTAGATCTATGAAGA	0.418000													30	92					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112666519	112666519	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:112666519T>C	ENST00000550722.1	-	42	6573	c.6178A>G	c.(6178-6180)Aga>Gga	p.R2060G	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2034G|HECTD4_ENST00000430131.2_Missense_Mutation_p.R1784G	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GAAGTCTTTCTACAGTCTATG	0.403000													28	70					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028913	59028913	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:59028913G>A	ENST00000594051.1	-	2	608	c.128C>T	c.(127-129)tCg>tTg	p.S43L	ZBTB45_ENST00000354590.3_Missense_Mutation_p.S43L|ZBTB45_ENST00000600990.1_Missense_Mutation_p.S43L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGCACGCAGCGAAGCTTCACG	0.617000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	37					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10187792	10187792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:10187792C>T	ENST00000535335.1	+	3	493	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	KLF11_ENST00000305883.1_Nonsense_Mutation_p.Q110*|KLF11_ENST00000540845.1_Nonsense_Mutation_p.Q93*	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	110					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AACTCCTCCTCAGAGCCCTGA	0.423000													26	32					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48146585	48146585	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:48146585G>A	ENST00000418331.2	+	6	1292	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	PTPRJ_ENST00000440289.2_Missense_Mutation_p.V314M	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	314	Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGAGTCCCTCGTGGGACCTGT	0.582000													44	147					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539431	27539431	+	RNA	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:27539431G>C	ENST00000574842.1	+	0	700				LRRC37A6P_ENST00000284414.4_RNA																							TGCCGAGTCTGAGAAGATTCA	0.572000													4	76					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29972903	29972903	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr18:29972903G>A	ENST00000399218.4	-	2	272	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	GAREM_ENST00000269209.6_Missense_Mutation_p.H73Y	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		ATGACATAGTGACCCTCCTCC	0.527000													12	35					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832595	79832595	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:79832595G>C	ENST00000335016.5	+	16	3060	c.2894G>C	c.(2893-2895)aGc>aCc	p.S965T	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	965						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATAACGGGGAGCCAGCAGCAA	0.473000													9	47					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137796463	137796463	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:137796463A>G	ENST00000327532.2	-	11	1662	c.1300T>C	c.(1300-1302)Tcc>Ccc	p.S434P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.S434P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	434						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCATCCTGGGAGTCCTCCATC	0.567000													16	53					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121757577	121757577	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:121757577C>G	ENST00000261819.3	-	13	1681	c.1560G>C	c.(1558-1560)atG>atC	p.M520I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.M507I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.M408I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.M408I|ANAPC5_ENST00000535482.1_Missense_Mutation_p.M186I|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	520					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCCATCATTCATTGCTCTGT	0.328000													11	87					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15726928	15726928	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:15726928C>T	ENST00000399451.2	-	21	2471	c.2104G>A	c.(2104-2106)Gta>Ata	p.V702I	ANKRD28_ENST00000383777.1_Missense_Mutation_p.V735I|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	702						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AATGCATCTACACATTCTTCA	0.408000													22	121					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155094506	155094506	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:155094506T>A	ENST00000342407.5	+	3	560	c.462T>A	c.(460-462)taT>taA	p.Y154*	INSIG1_ENST00000344756.4_Missense_Mutation_p.F100I|INSIG1_ENST00000340368.4_Missense_Mutation_p.F252I	NM_198337.2	NP_938151.1	O15503	INSI1_HUMAN	insulin induced gene 1	0					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTTGTATATTTTTCTCAGG	0.423000													93	124					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24572371	24572371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:24572371G>A	ENST00000336812.4	-	3	763	c.607C>T	c.(607-609)Cag>Tag	p.Q203*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	203	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GCAACTCTCTGAGCCACACTC	0.483000													22	21					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17130175	17130175	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:17130175T>A	ENST00000377833.4	-	15	2000	c.1935A>T	c.(1933-1935)aaA>aaT	p.K645N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	645	CUB 2.				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)	CAAGGTAATCTTTGTTGCAGT	0.418000													14	56					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197195	39197195	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:39197195G>T	ENST00000306271.4	-	1	518	c.455C>A	c.(454-456)tCc>tAc	p.S152Y		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	152						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGGCAGCAGGAGGCCTCGGC	0.652000													7	44					0.00198382	0.00202633	1	1	0
HIST3H2A	92815	broad.mit.edu	37	1	228645514	228645514	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:228645514G>C	ENST00000366695.2	-	1	46	c.5C>G	c.(4-6)tCc>tGc	p.S2C		NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	2					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				ACCACGACCGGACATTTCCGA	0.607000													12	21					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49962219	49962219	+	Silent	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chrX:49962219C>G	ENST00000376056.2	-	3	273	c.123G>C	c.(121-123)ctG>ctC	p.L41L	AKAP4_ENST00000376058.2_Silent_p.L41L|AKAP4_ENST00000358526.2_Silent_p.L50L|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.L41L			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	50					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCTACATTCAGGGTGGACA	0.403000													6	26					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454626	114454626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr9:114454626G>A	ENST00000394779.3	-	23	3566	c.3322C>T	c.(3322-3324)Cag>Tag	p.Q1108*	C9orf84_ENST00000394777.4_Nonsense_Mutation_p.Q1073*|C9orf84_ENST00000374287.3_Nonsense_Mutation_p.Q1147*|C9orf84_ENST00000318737.4_Nonsense_Mutation_p.Q1147*	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1147										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						CCTAAATACTGATAATATTCA	0.348000													22	20					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898620	160898620	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:160898620C>T	ENST00000283243.7	-	3	789	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E195K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	195	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCCCGACCTTCACGGGTACAT	0.453000													18	61					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32126208	32126208	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:32126208C>T	ENST00000373672.3	-	62	4373	c.3857G>A	c.(3856-3858)aGa>aAa	p.R1286K	COL16A1_ENST00000271069.6_Missense_Mutation_p.R1286K	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1286	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGACCGGGTCTTCCCTGGGG	0.537000													24	41					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24651054	24651054	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:24651054G>A	ENST00000341060.3	-	6	1272	c.877C>T	c.(877-879)Cac>Tac	p.H293Y	TDP2_ENST00000545995.1_Missense_Mutation_p.H381Y|TDP2_ENST00000378198.4_Missense_Mutation_p.H351Y			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	351					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AGACCCCAGTGATCACTAGGA	0.393000								Direct reversal of damage					23	39					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945295	4945295	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:4945295C>G	ENST00000321961.2	-	1	342	c.275G>C	c.(274-276)aGa>aCa	p.R92T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAATCTCTCTGGTATCAAA	0.488000													23	14					0	0	1	0	0
AMN1	196394	broad.mit.edu	37	12	31854859	31854859	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:31854859C>G	ENST00000281471.6	-	3	419	c.254G>C	c.(253-255)aGa>aCa	p.R85T	AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000537562.1_Missense_Mutation_p.R67T|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.R67T	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	85										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CTTCAGTTTTCTACAGTTAGA	0.353000													13	29					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40326640	40326640	+	Missense_Mutation	SNP	A	A	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:40326640A>C	ENST00000263791.5	+	38	4930	c.4887A>C	c.(4885-4887)gaA>gaC	p.E1629D	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E1601D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1629					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCAAAGTAGAAAAAAAGTAAG	0.398000													8	24					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51086796	51086796	+	Splice_Site	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:51086796G>A	ENST00000301180.5	+	14	1753	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	573						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCATGTTTGCGGTAAGCTACT	0.388000													3	60					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50395961	50395961	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:50395961G>A	ENST00000266025.3	-	1	1080	c.534C>T	c.(532-534)ctC>ctT	p.L178L	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	178					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		gccgcagcaggagcagcagcg	0.637000													3	15					0	0	1	0	0
SAPCD1	401251	broad.mit.edu	37	6	31730897	31730897	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:31730897G>A	ENST00000415669.2	+	1	125	c.66G>A	c.(64-66)ccG>ccA	p.P22P	SAPCD1_ENST00000425424.1_Silent_p.P22P|MSH5_ENST00000534153.4_3'UTR|MSH5-SAPCD1_ENST00000493662.2_3'UTR|MSH5-SAPCD1_ENST00000491552.1_3'UTR	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN	suppressor APC domain containing 1	22																	TGCTGCTGCCGCTGGGGACAA	0.632000													5	9					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508132	14508132	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:14508132G>C	ENST00000454876.2	+	7	1170	c.841G>C	c.(841-843)Gac>Cac	p.D281H	SLC6A6_ENST00000360861.3_Missense_Mutation_p.D281H			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	281					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCTGTATCCTGACATCACCCG	0.632000													9	76					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175124	112175124	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:112175124C>T	ENST00000457016.1	+	16	4213	c.3833C>T	c.(3832-3834)tCa>tTa	p.S1278L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1278L|APC_ENST00000508376.2_Missense_Mutation_p.S1278L			P25054	APC_HUMAN	adenomatous polyposis coli	1278	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1278*(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTTCATTATCATCTTTGTCA	0.343000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	5					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48757826	48757826	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:48757826C>T	ENST00000316623.5	-	40	5336	c.4881G>A	c.(4879-4881)ggG>ggA	p.G1627G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1627	EGF-like 27; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTGGAAACTCCCAAAGGTGT	0.448000													48	43					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275433	58275433	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:58275433G>A	ENST00000360374.2	-	1	145	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGGAGTCTGAGTGGATGAT	0.493000													10	39					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32613998	32613998	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:32613998C>G	ENST00000421745.2	+	4	960	c.826C>G	c.(826-828)Cgt>Ggt	p.R276G		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	276					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R276C(1)|p.R248C(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGGGCCAGGCCGTTCTGTAGA	0.433000													5	13					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65113661	65113661	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:65113661G>A	ENST00000268043.4	-	5	970	c.876C>T	c.(874-876)ggC>ggT	p.G292G	PIF1_ENST00000559239.1_Silent_p.G292G|PIF1_ENST00000333425.6_Silent_p.G292G			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	292	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCTGCCGCACGCCTGGCCTTT	0.607000													17	69					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43658794	43658794	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr22:43658794G>A	ENST00000360835.4	-	5	668	c.542C>T	c.(541-543)cCc>cTc	p.P181L	SCUBE1_ENST00000290460.7_Missense_Mutation_p.P181L	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 4 (Potential).				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)				CCCACCTTTGGGCGTCTCCCG	0.572000													31	34					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175015	112175015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:112175015C>T	ENST00000457016.1	+	16	4104	c.3724C>T	c.(3724-3726)Cag>Tag	p.Q1242*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1242*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1242*			P25054	APC_HUMAN	adenomatous polyposis coli	1242	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGAAGTGGTCAGCCTCAAAA	0.408000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			20	4					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650066	93650066	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr9:93650066C>T	ENST00000375754.4	+	12	1765	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	SYK_ENST00000375751.4_Silent_p.Y516Y|SYK_ENST00000375747.1_Silent_p.Y516Y|SYK_ENST00000375746.1_Silent_p.Y539Y	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	539	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCAAGTGGTACGCTCCGGAAT	0.483000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								23	100					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73649902	73649902	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr13:73649902G>T	ENST00000377687.4	+	4	1788	c.1252G>T	c.(1252-1254)Gat>Tat	p.D418Y	KLF5_ENST00000539231.1_Missense_Mutation_p.D327Y	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	418					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CGCGCGATCGGATGAGCTGAC	0.602000													6	67					0.27861	0.27861	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	88					0.184627	0.185275	1	1	0
BEND3	57673	broad.mit.edu	37	6	107390671	107390671	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:107390671G>A	ENST00000429433.2	-	5	2373	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	BEND3_ENST00000369042.1_Missense_Mutation_p.S575L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	575	BEN 3.							p.S575L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGCAGGCGCGAGGCGAAGTT	0.647000													17	37					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135285814	135285814	+	Silent	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr9:135285814C>A	ENST00000343036.2	+	1	204	c.156C>A	c.(154-156)gtC>gtA	p.V52V	C9orf171_ENST00000393215.3_Silent_p.V52V|C9orf171_ENST00000393216.2_Silent_p.V52V	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	52										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGCTGGGGGTCGTGCGGGACT	0.721000													10	7					6.40141e-05	6.6094e-05	1	1	0
KIRREL2	84063	broad.mit.edu	37	19	36357115	36357115	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:36357115C>T	ENST00000360202.5	+	15	2046	c.1848C>T	c.(1846-1848)ggC>ggT	p.G616G	KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.G581G	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	616					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAGCCTTGGCGAAGCCCCTG	0.607000													17	85					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105025846	105025846	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:105025846C>G	ENST00000507740.1	+	16	2899	c.2663C>G	c.(2662-2664)tCg>tGg	p.S888W	RIMS2_ENST00000406091.3_Missense_Mutation_p.S1074W|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.S913W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1136	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGCCTTATCGAGGTGAAAG	0.463000										HNSCC(12;0.0054)			12	92					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155903600	155903600	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:155903600G>C	ENST00000368320.3	-	2	104	c.79C>G	c.(79-81)Ctc>Gtc	p.L27V	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.L27V|KIAA0907_ENST00000368319.3_Missense_Mutation_p.L27V			Q7Z7F0	K0907_HUMAN	KIAA0907	27										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGAGGAAGAGAAGTGGGGCT	0.587000													3	8					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17826044	17826044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:17826044C>A	ENST00000378814.5	-	16	1740	c.1741G>T	c.(1741-1743)Gaa>Taa	p.E581*	KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E581*|KIF13A_ENST00000259711.6_Nonsense_Mutation_p.E581*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E581*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E581*	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	581					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.E581Q(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGTGCAAATTCATAGTTATAG	0.473000													40	59					1.59361e-14	1.70064e-14	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102987401	102987401	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:102987401C>A	ENST00000375735.2	+	5	868	c.724C>A	c.(724-726)Cat>Aat	p.H242N	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.H242N|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H242N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	242	Stem (By similarity).				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)		AGAACATGATCATTATCCTGA	0.348000													8	71					3.09899e-07	3.21127e-07	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41419897	41419897	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr20:41419897C>T	ENST00000373198.4	-	3	659	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	PTPRT_ENST00000373184.1_Missense_Mutation_p.V142I|PTPRT_ENST00000373190.1_Missense_Mutation_p.V142I|PTPRT_ENST00000356100.2_Missense_Mutation_p.V142I|PTPRT_ENST00000373187.1_Missense_Mutation_p.V142I|PTPRT_ENST00000373201.1_Missense_Mutation_p.V142I|PTPRT_ENST00000373193.3_Missense_Mutation_p.V142I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCTCAGTGACGACCCCGGAC	0.532000													36	58					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17587722	17587722	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr20:17587722C>T	ENST00000246069.7	+	4	775	c.429C>T	c.(427-429)ctC>ctT	p.L143L	DSTN_ENST00000474024.1_Silent_p.L126L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CAGAAGATCTCAATCGGGCTT	0.383000													47	31					0	0	1	0	0
PEX11G	92960	broad.mit.edu	37	19	7542273	7542273	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:7542273C>T	ENST00000593942.1	-	7	833	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PEX11G_ENST00000221480.1_Missense_Mutation_p.E181K|PEX11G_ENST00000599519.1_5'UTR			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	181						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GACAGCGCCTCCGACTGCATC	0.716000													5	2					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25030481	25030481	+	Missense_Mutation	SNP	C	C	T	rs113934879		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr13:25030481C>T	ENST00000381989.3	-	21	2665	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	854					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGTATACCTCGCTTTCTTTT	0.383000													13	33					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42576581	42576581	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:42576581C>T	ENST00000433647.1	+	12	1626	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	VIPR1_ENST00000543411.1_Silent_p.V327V|VIPR1_ENST00000438259.2_Silent_p.V165V|VIPR1_ENST00000325123.4_Silent_p.V375V	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	375					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTGAGCTCGTCGTGGGGTCTT	0.502000													79	88					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42695006	42695006	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:42695006G>C	ENST00000397163.3	+	13	1770	c.1551G>C	c.(1549-1551)aaG>aaC	p.K517N	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.K430N|CAPN3_ENST00000397200.4_Missense_Mutation_p.K5N|CAPN3_ENST00000349748.3_Missense_Mutation_p.K469N|CAPN3_ENST00000318023.7_Missense_Mutation_p.K517N|CAPN3_ENST00000357568.3_Missense_Mutation_p.K517N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	517	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACGGGAACAAGCAGCACCTGC	0.612000													14	26					0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010904	62010904	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:62010904G>A	ENST00000244926.3	+	2	297	c.199G>A	c.(199-201)Gat>Aat	p.D67N	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	67						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						GAGATGCACGGATCAGATGTC	0.453000													20	93					0	0	1	0	0
MRPL34	64981	broad.mit.edu	37	19	17417117	17417117	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:17417117C>G	ENST00000252602.1	+	2	433	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	MRPL34_ENST00000600434.1_Missense_Mutation_p.L70V|MRPL34_ENST00000595444.1_Missense_Mutation_p.L162V|MRPL34_ENST00000602206.1_Silent_p.A36A|MRPL34_ENST00000594999.1_Missense_Mutation_p.L70V	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	70					translation		structural constituent of ribosome			endometrium(1)|lung(1)	2						GGTCCGGCGCCTGAGCACGCC	0.677000													8	14					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595886	32595886	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr21:32595886G>A	ENST00000286827.3	-	9	2302	c.1831C>T	c.(1831-1833)Ctc>Ttc	p.L611F	TIAM1_ENST00000541036.1_Missense_Mutation_p.L611F|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	611					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AACTGCTCGAGATTTTGCTCC	0.433000													5	62					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843356	4843356	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:4843356G>C	ENST00000322110.5	+	1	806	c.741G>C	c.(739-741)gaG>gaC	p.E247D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCAGAAGAGAGGCGGAAAG	0.493000													24	30					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47025942	47025942	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:47025942G>A	ENST00000371946.4	-	13	1299	c.1136C>T	c.(1135-1137)cCa>cTa	p.P379L	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.P243L|MKNK1_ENST00000428112.2_Intron|MKNK1_ENST00000371945.4_Missense_Mutation_p.P338L|MKNK1_ENST00000341183.5_Intron	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	379					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCCTTTTCTGGAGCTTGCTA	0.567000													4	27					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907716	53907716	+	Missense_Mutation	SNP	C	C	T	rs146417353		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:53907716C>T	ENST00000396328.1	-	15	2926	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	WDR72_ENST00000360509.5_Missense_Mutation_p.R896Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R906Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R893Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCTGACTCTCGCAAAGAATC	0.348000													13	32					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38539189	38539189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr22:38539189G>A	ENST00000332509.3	-	4	715	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	PLA2G6_ENST00000335539.3_Nonsense_Mutation_p.Q178*|PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Nonsense_Mutation_p.Q178*	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	178					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ACATCCATCTGAGTGTGGCAG	0.607000													58	136					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8155062	8155062	+	Silent	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:8155062G>C	ENST00000600128.1	-	49	6519	c.6105C>G	c.(6103-6105)acC>acG	p.T2035T	FBN3_ENST00000270509.2_Silent_p.T2035T|FBN3_ENST00000601739.1_Silent_p.T2035T			Q75N90	FBN3_HUMAN	fibrillin 3	2035	TB 8.					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						AGCGGGTCTTGGTGGTGTTGA	0.632000													17	23					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126715604	126715604	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:126715604G>A	ENST00000309035.6	-	1	855	c.725C>T	c.(724-726)cCc>cTc	p.P242L	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	388					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTGCCTTCGGGGGCAGCAGC	0.637000													32	45					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68107760	68107760	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:68107760G>A	ENST00000262210.5	+	29	3629	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.E855K	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1235						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCTGAACCAGGAGCAGCAGCA	0.527000													116	37					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133732599	133732599	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:133732599C>G	ENST00000248211.6	+	5	989	c.767C>G	c.(766-768)tCa>tGa	p.S256*	ZNF10_ENST00000426665.2_Nonsense_Mutation_p.S256*|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	256				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTTGGTATATCAAAGGGCATA	0.388000													33	31					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43482298	43482298	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:43482298G>C	ENST00000532038.1	-	3	775	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.Q73E|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.Q414E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.Q414E|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.Q414E|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.Q73E|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.Q73E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	414					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCTGCTCCTGAGTGAAGTGG	0.602000													14	50					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292500	33292500	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr14:33292500C>T	ENST00000280979.4	+	13	5651	c.5481C>T	c.(5479-5481)ggC>ggT	p.G1827G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1827					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGATGAAGGGCAGTAAAGATA	0.383000													16	19					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006388	151006388	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:151006388C>T	ENST00000271620.3	+	8	1196	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	PRUNE_ENST00000368935.1_Missense_Mutation_p.S62F|PRUNE_ENST00000368936.1_Missense_Mutation_p.S165F|PRUNE_ENST00000368937.1_Missense_Mutation_p.S112F|PRUNE_ENST00000271619.8_Missense_Mutation_p.S135F|PRUNE_ENST00000368934.1_Missense_Mutation_p.S112F	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	347						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCCAGGTCTCTCGAAAGAAA	0.552000													37	67					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32943231	32943231	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:32943231A>G	ENST00000395289.2	+	4	2005	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	BRD2_ENST00000374831.4_Missense_Mutation_p.Y135C|BRD2_ENST00000443797.2_Missense_Mutation_p.Y15C|BRD2_ENST00000449085.2_Missense_Mutation_p.Y88C|BRD2_ENST00000374825.4_Missense_Mutation_p.Y135C|BRD2_ENST00000395287.1_Missense_Mutation_p.Y135C			P25440	BRD2_HUMAN	bromodomain containing 2	135	Bromo 1.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AACAATTATTATTGGGCTGCT	0.338000													29	33					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132402368	132402368	+	Splice_Site	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:132402368C>T	ENST00000337331.5	-	25	3657	c.3571G>A	c.(3571-3573)Ggg>Agg	p.G1191R	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1191					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAAGTTTCCCCTAAAAAACA	0.328000													6	34					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6502620	6502620	+	Silent	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:6502620T>C	ENST00000361413.3	-	14	2467	c.2109A>G	c.(2107-2109)gaA>gaG	p.E703E	KIAA0753_ENST00000542606.1_Silent_p.E404E|KIAA0753_ENST00000589033.1_Silent_p.E159E|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.E404E	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	703						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GAATATTTGCTTCTGTAGTAG	0.363000													7	25					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80467371	80467371	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:80467371T>C	ENST00000539156.1	+	9	2879	c.641T>C	c.(640-642)cTg>cCg	p.L214P	FAH_ENST00000407106.1_Missense_Mutation_p.L284P|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.L284P|FAH_ENST00000261755.5_Missense_Mutation_p.L284P			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	284					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAGGCCCCTGCCGTATCTG	0.602000									Tyrosinemia, type 1				9	35					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986596	15986596	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:15986596C>G	ENST00000345034.1	+	1	233	c.233C>G	c.(232-234)tCt>tGt	p.S78C	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	78					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATCTTTCTGATCATGCT	0.428000													46	57					0	0	1	0	0
CCT4	10575	broad.mit.edu	37	2	62104160	62104160	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:62104160C>T	ENST00000394440.3	-	7	968	c.672G>A	c.(670-672)gtG>gtA	p.V224V	CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Silent_p.V194V|CCT4_ENST00000538252.1_Silent_p.V168V|CCT4_ENST00000544185.1_Silent_p.V74V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	224					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CCAGCCCTTCCACCAACTCAC	0.413000													20	80					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55687142	55687142	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:55687142G>A	ENST00000354308.3	-	5	844	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	SYT5_ENST00000590851.1_Missense_Mutation_p.R156W|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.R159W	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	159	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTCTCGTACCGCCTCCGTTTG	0.607000													14	63					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74114614	74114614	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:74114614G>A	ENST00000338820.3	-	1	293	c.144C>T	c.(142-144)atC>atT	p.I48I	DNAJB12_ENST00000444643.2_Silent_p.I14I|DNAJB12_ENST00000394903.2_Silent_p.I48I	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	14					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	p.I14I(1)		endometrium(1)|large_intestine(2)|skin(1)	4						CCTTGAGGGCGATGCTGATAC	0.657000													32	28					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061819	29061819	+	RNA	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:29061819G>A	ENST00000582557.1	+	0	739																											TTCCATAGCAGATGACAAGTT	0.313000													26	33					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106123	27106123	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:27106123G>A	ENST00000324856.7	+	20	6105	c.5734G>A	c.(5734-5736)Gat>Aat	p.D1912N	ARID1A_ENST00000457599.2_Missense_Mutation_p.D1695N|ARID1A_ENST00000540690.1_Missense_Mutation_p.D240N|ARID1A_ENST00000374152.2_Missense_Mutation_p.D1529N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1912					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCCACTATGGATGACATGTT	0.537000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								36	32					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395132	10395132	+	Missense_Mutation	SNP	G	G	A	rs143008699		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:10395132G>A	ENST00000264832.3	+	5	1304	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ICAM1_ENST00000423829.2_Missense_Mutation_p.E105K|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	327	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.E327K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGAAGGGACCGAGGTGACAGT	0.642000													9	69					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209344	3209344	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr20:3209344G>A	ENST00000380059.3	-	18	2432	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	SLC4A11_ENST00000380056.3_Silent_p.N750N|SLC4A11_ENST00000539553.2_Silent_p.N734N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	750	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCCTTCACGTTCACAATCC	0.682000													4	11					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42695007	42695007	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:42695007C>A	ENST00000397163.3	+	13	1771	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.Q431K|CAPN3_ENST00000397200.4_Missense_Mutation_p.Q6K|CAPN3_ENST00000349748.3_Missense_Mutation_p.Q470K|CAPN3_ENST00000318023.7_Missense_Mutation_p.Q518K|CAPN3_ENST00000357568.3_Missense_Mutation_p.Q518K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	518	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CGGGAACAAGCAGCACCTGCA	0.612000													13	26					0.000308642	0.000317524	1	1	0
BCCIP	56647	broad.mit.edu	37	10	127529824	127529824	+	Splice_Site	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:127529824G>A	ENST00000299130.3	+	7	787	c.775G>A	c.(775-777)Gag>Aag	p.E259K	BCCIP_ENST00000368759.5_Splice_Site_p.E259K|DHX32_ENST00000368721.1_Intron|DHX32_ENST00000284688.6_Intron|DHX32_ENST00000284690.3_Intron|BCCIP_ENST00000429863.2_Splice_Site_p.E229K	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	259	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTCCGGCAGGAGCAGGGAAA	0.458000													12	18					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33239342	33239342	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:33239342G>A	ENST00000482399.1	-	1	311	c.111C>T	c.(109-111)ttC>ttT	p.F37F	VPS52_ENST00000436044.2_Intron|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000445902.2_Intron			Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	0					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTACGGAGGAGAAACAGCTCC	0.607000													8	3					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65438995	65438995	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:65438995G>C	ENST00000330909.8	-	6	979	c.980C>G	c.(979-981)tCt>tGt	p.S327C	MAGI1_ENST00000402939.2_Missense_Mutation_p.S327C|MAGI1_ENST00000483466.1_Missense_Mutation_p.S327C|MAGI1_ENST00000497477.2_Missense_Mutation_p.S327C|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	327	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCTAACCAAGATGTTGTTTT	0.418000													25	43					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519918	113519918	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:113519918G>C	ENST00000284601.3	-	4	1297	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	410					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCCCATATTTGAAGTAGTTTC	0.388000													82	84					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29496108	29496108	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:29496108G>A	ENST00000360150.4	-	12	1008	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	311					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	AAAACTGCCAGAATGGCATGT	0.393000													23	40					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231065644	231065644	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:231065644C>T	ENST00000258381.6	-	10	1163	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	SP110_ENST00000358662.4_Silent_p.K362K|SP110_ENST00000392048.3_Silent_p.K360K|SP110_ENST00000258382.5_Silent_p.K362K|SP110_ENST00000338556.3_Silent_p.K64K|SP110_ENST00000540870.1_Silent_p.K368K	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	362					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTGGGACCTCTTTCCTTCAT	0.448000													35	88					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029819	201029819	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:201029819G>A	ENST00000362061.3	-	26	3607	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L	CACNA1S_ENST00000367338.3_Silent_p.L1127L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1127					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGCATGATGAGGGCAAACA	0.537000													67	85					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384043	25384043	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:25384043G>A	ENST00000405623.1	-	3	1166	c.711C>T	c.(709-711)taC>taT	p.Y237Y	POMC_ENST00000264708.3_Silent_p.Y237Y|POMC_ENST00000395826.2_Silent_p.Y237Y|POMC_ENST00000380794.1_Silent_p.Y237Y			P01189	COLI_HUMAN	proopiomelanocortin	237					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)	TGAAACCGCCGTAGCGCTTGT	0.622000													12	38					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377432	68377432	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:68377432C>T	ENST00000393799.2	+	24	2796	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	PPP6R3_ENST00000265636.5_Silent_p.P757P|PPP6R3_ENST00000534534.1_Silent_p.P605P|PPP6R3_ENST00000265637.4_Silent_p.P791P|PPP6R3_ENST00000393800.2_Silent_p.P837P|PPP6R3_ENST00000524904.1_Silent_p.P831P|PPP6R3_ENST00000393801.3_Silent_p.P843P|PPP6R3_ENST00000527403.2_Silent_p.P802P|PPP6R3_ENST00000524845.1_Silent_p.P808P|PPP6R3_ENST00000529710.1_Silent_p.P757P			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	837					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAGTGTCCCGAGACTGCAG	0.602000													17	77					0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108017068	108017068	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:108017068C>T	ENST00000265838.4	+	11	1236	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	382					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GGAGCTGTTTCTCTGGGACAT	0.363000													20	57					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43418281	43418281	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:43418281A>G	ENST00000039989.4	+	6	700	c.686A>G	c.(685-687)tAt>tGt	p.Y229C	TTC17_ENST00000299240.6_Missense_Mutation_p.Y229C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	229							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGGGTACTGTATAACATGGCT	0.378000													9	37					0	0	1	0	0
C3orf62	375341	broad.mit.edu	37	3	49311573	49311573	+	Splice_Site	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:49311573C>T	ENST00000343010.3	-	2	1483	c.447G>A	c.(445-447)agG>agA	p.R149R	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	149										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCATATCTTTCCTGCAGCCCC	0.418000													9	22					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023070	18023070	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:18023070C>T	ENST00000205890.5	+	2	1294	c.956C>T	c.(955-957)cCg>cTg	p.P319L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	319	Myosin head-like.				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)					TATGCGCCCCCGTCGGGGTAC	0.612000													21	43					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896121	56896121	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:56896121G>A	ENST00000301310.4	-	5	823	c.665C>T	c.(664-666)tCt>tTt	p.S222F	ZNF582_ENST00000586929.1_Missense_Mutation_p.S222F	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTTCTTACCAGAATGAATATT	0.348000													26	40					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2381073	2381073	+	Silent	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr20:2381073G>C	ENST00000202625.2	+	7	1033	c.972G>C	c.(970-972)ctG>ctC	p.L324L	TGM6_ENST00000381423.1_Silent_p.L324L|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	324					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGAGGACCTGACAGAAGACA	0.607000													11	25					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436742	56436742	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:56436742G>A	ENST00000327381.6	+	3	2009	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTACAAAGATGATGCCCTTAT	0.493000													12	47					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173901370	173901370	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:173901370C>T	ENST00000264111.6	+	29	2987	c.2800C>T	c.(2800-2802)Cat>Tat	p.H934Y	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H782Y|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H715Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H935Y|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H764Y|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H791Y|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H782Y			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	935	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GACATTTACTCATGAGGGGAA	0.303000													3	33					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512767	99512767	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:99512767G>A	ENST00000535714.1	-	4	901	c.96C>T	c.(94-96)ggC>ggT	p.G32G	PGPEP1L_ENST00000378919.6_Silent_p.G86G|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	86					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GTAGGCACACGCCGCCCTCGG	0.632000													45	89					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49225906	49225906	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:49225906C>G	ENST00000308025.3	-	15	2098	c.2019G>C	c.(2017-2019)caG>caC	p.Q673H		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	673	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						AGCCCTTCTTCTGGTTGACAA	0.493000													29	53					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140750	55140750	+	Silent	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:55140750T>C	ENST00000257290.5	+	11	1942	c.1611T>C	c.(1609-1611)atT>atC	p.I537I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	537					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGTTGGTGATTGTGATCATCT	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			22	80					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837320	7837320	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:7837320C>T	ENST00000054666.6	+	3	288	c.173C>T	c.(172-174)tCt>tTt	p.S58F	VAMP3_ENST00000470357.1_Missense_Mutation_p.S30F	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	58	v-SNARE coiled-coil homology.				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGGCGCTTCTCAATTTGAA	0.463000													40	39					0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12583256	12583256	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:12583256C>T	ENST00000398246.3	-	11	2212	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	LONRF1_ENST00000525024.1_Missense_Mutation_p.E141K|LONRF1_ENST00000533751.1_Missense_Mutation_p.E358K	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	715	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCCTCCCTCTCGGGCATTGAT	0.393000													21	73					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111773470	111773470	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:111773470C>T	ENST00000445067.2	+	5	948	c.177C>T	c.(175-177)ctC>ctT	p.L59L	CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369744.2_Silent_p.L49L|CHI3L2_ENST00000369748.4_Silent_p.L59L|CHI3L2_ENST00000524472.1_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2	59					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GCTCTCATCTCATCTATTCAT	0.458000													23	26					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112173884	112173884	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:112173884C>T	ENST00000457016.1	+	16	2973	c.2593C>T	c.(2593-2595)Cca>Tca	p.P865S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P865S|APC_ENST00000508376.2_Missense_Mutation_p.P865S			P25054	APC_HUMAN	adenomatous polyposis coli	865	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)|p.P865S(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAACTACCATCCAGCAACAGA	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			20	5					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223402	25223402	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:25223402G>T	ENST00000444203.2	+	7	1673	c.634G>T	c.(634-636)Gct>Tct	p.A212S	SNRPN_ENST00000400097.1_Missense_Mutation_p.A208S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A208S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A208S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A208S|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400100.1_Missense_Mutation_p.A208S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A208S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A212S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	208	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCTTCCCCCTGCTCGAGGGAC	0.552000									Prader-Willi syndrome				72	64					1.15062e-32	1.23713e-32	1	1	0
KLC3	147700	broad.mit.edu	37	19	45851299	45851299	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:45851299G>A	ENST00000470402.1	+	4	802	c.702G>A	c.(700-702)caG>caA	p.Q234Q	KLC3_ENST00000585434.1_Silent_p.Q219Q|KLC3_ENST00000391946.2_Silent_p.Q220Q			Q6P597	KLC3_HUMAN	kinesin light chain 3	220						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACGCGGGGCAGGGCCGCTATG	0.672000													14	5					0	0	1	0	0
C2orf73	129852	broad.mit.edu	37	2	54570910	54570910	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:54570910C>T	ENST00000398634.2	+	3	330	c.288C>T	c.(286-288)taC>taT	p.Y96Y	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Silent_p.Y38Y	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	96										breast(2)	2						TACCACCTTACGACTCTAAGA	0.443000													13	46					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101185461	101185461	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:101185461G>A	ENST00000264254.6	+	3	580	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	68					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGAGGAGGATGAACGTGCTAT	0.378000													24	18					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655996	62655996	+	Missense_Mutation	SNP	C	C	T	rs138529750		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:62655996C>T	ENST00000377892.1	+	13	2041	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	SLC3A2_ENST00000535296.1_Missense_Mutation_p.S544L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.S575L|SLC3A2_ENST00000377889.2_Missense_Mutation_p.S513L|SLC3A2_ENST00000338663.7_Missense_Mutation_p.S474L|SLC3A2_ENST00000536981.1_Missense_Mutation_p.S120L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.S576L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	575					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTGGGCCTCTCGGCTGGACTG	0.642000													6	164					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612877	85612877	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:85612877C>T	ENST00000322366.6	-	59	9467	c.9060G>A	c.(9058-9060)caG>caA	p.Q3020Q	WDFY3_ENST00000295888.4_Silent_p.Q3037Q			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3037						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACCTTATTCTGTTCCACCG	0.418000													13	71					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49224476	49224476	+	Splice_Site	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:49224476C>G	ENST00000308025.3	-	17	2319		c.e17-1			NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGGATGTAATCTGGGGAATGG	0.572000													14	30					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40055022	40055022	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:40055022G>A	ENST00000352035.2	-	12	1330	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	ACLY_ENST00000393896.2_Silent_p.I400I|ACLY_ENST00000537919.1_Silent_p.I139I|ACLY_ENST00000353196.1_Silent_p.I400I|ACLY_ENST00000590151.1_Silent_p.I400I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	400					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)				CATGGATGGGGATCCCAGTGG	0.562000													7	19					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423404	27423404	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr21:27423404C>G	ENST00000358918.3	-	5	773	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	APP_ENST00000439274.2_Missense_Mutation_p.E136Q|APP_ENST00000440126.3_Missense_Mutation_p.E187Q|APP_ENST00000348990.5_Missense_Mutation_p.E192Q|APP_ENST00000354192.3_Missense_Mutation_p.E136Q|APP_ENST00000359726.3_Missense_Mutation_p.E192Q|APP_ENST00000448388.2_Missense_Mutation_p.E157Q|APP_ENST00000346798.3_Missense_Mutation_p.E192Q|APP_ENST00000357903.3_Missense_Mutation_p.E192Q|APP_ENST00000474136.1_5'UTR	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	192					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTGTCACTTTCTTCAGCCAGT	0.537000													32	32					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165667616	165667616	+	Splice_Site	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:165667616G>T	ENST00000354775.4	-	1	484	c.180C>A	c.(178-180)acC>acA	p.T60T	ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	36					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TGCAGTTACCGGTTGCTGGCT	0.687000													6	25					1.26484e-09	1.32508e-09	1	1	0
ATAD2	29028	broad.mit.edu	37	8	124359379	124359379	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:124359379C>G	ENST00000287394.5	-	16	2272	c.2165G>C	c.(2164-2166)aGa>aCa	p.R722T	ATAD2_ENST00000521903.1_Missense_Mutation_p.R40T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGAAATACTCTCTGCAGGGC	0.398000													20	114					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37343705	37343705	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:37343705G>C	ENST00000361924.2	+	10	1490	c.1116G>C	c.(1114-1116)caG>caC	p.Q372H	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q394H	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	372	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAAACGTCAGATGCATGAAA	0.403000													26	22					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495282	6495282	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:6495282C>T	ENST00000264071.2	-	4	1599	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E410K			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	410					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CTCTCGGCCTCGGTGAACTCC	0.617000													6	158					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380515	100380515	+	Splice_Site	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr14:100380515G>C	ENST00000262233.6	+	14	1633		c.e14-1		EML1_ENST00000334192.4_Splice_Site|EML1_ENST00000327921.9_Splice_Site	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTCAATGCAGATTCCAGAAC	0.408000													14	49					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097557	69097557	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:69097557A>T	ENST00000543976.1	-	2	545	c.299T>A	c.(298-300)tTt>tAt	p.F100Y	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.F100Y|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	100					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGGCGAGAGAAAGGCACTGAA	0.453000													55	123					0	0	1	0	0
KREMEN2	79412	broad.mit.edu	37	16	3016434	3016434	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr16:3016434G>A	ENST00000572045.1	+	4	775	c.470G>A	c.(469-471)cGc>cAc	p.R157H	KREMEN2_ENST00000575769.1_Missense_Mutation_p.R157H|KREMEN2_ENST00000319500.6_Missense_Mutation_p.R157H|KREMEN2_ENST00000303746.5_Missense_Mutation_p.R157H|KREMEN2_ENST00000575885.1_Missense_Mutation_p.R157H|KREMEN2_ENST00000571007.1_Missense_Mutation_p.R157H	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	157	WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CGCTTCTGCCGCATGAAGGGG	0.627000													15	35					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128426255	128426255	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:128426255G>A	ENST00000392668.4	-	3	229	c.145C>T	c.(145-147)Cct>Tct	p.P49S	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGGTAGCAAGGTCTTTGCTGG	0.438000													9	48					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799154	20799154	+	Missense_Mutation	SNP	G	G	C	rs149602220		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:20799154G>C	ENST00000327925.5	-	1	299	c.180C>G	c.(178-180)agC>agG	p.S60R	RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	60										large_intestine(3)|lung(3)|skin(1)	7						GCTTGCTCTCGCTGCCGACGC	0.637000													5	177					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69103805	69103805	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:69103805G>C	ENST00000229179.4	+	10	1154	c.822G>C	c.(820-822)gaG>gaC	p.E274D	NUP107_ENST00000378905.2_Missense_Mutation_p.E123D|NUP107_ENST00000539906.1_Missense_Mutation_p.E245D	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	274					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTGGTTAGAGAGTATTGCCA	0.294000													28	77					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108614971	108614971	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr4:108614971C>G	ENST00000265174.4	-	3	639	c.367G>C	c.(367-369)Gct>Cct	p.A123P	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	123					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ACTAAGCCAGCATCTGCAAAC	0.398000													11	44					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124818393	124818393	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:124818393C>T	ENST00000334705.7	+	20	2202	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	FAM91A1_ENST00000521166.1_Silent_p.L652L	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	652										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TACAGCATCTCTGTGGATATG	0.413000													22	195					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290508	23290508	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:23290508C>T	ENST00000358689.4	-	13	2017	c.1782G>A	c.(1780-1782)cgG>cgA	p.R594R	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Silent_p.R586R|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	594					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGAGCTGCTCCGGGGAGTGC	0.647000													28	15					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65163705	65163705	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:65163705C>G	ENST00000358691.5	-	14	1804	c.1638G>C	c.(1636-1638)caG>caC	p.Q546H	HELZ_ENST00000580168.1_Missense_Mutation_p.Q546H	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTCCCTGGGTCTGTACTAACT	0.363000													31	75					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73466659	73466659	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:73466659G>T	ENST00000224721.6	+	25	2979	c.2974G>T	c.(2974-2976)Gat>Tat	p.D992Y	CDH23_ENST00000299366.7_Missense_Mutation_p.D1032Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	987	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGCAGTGCTGGATGTGAACGA	0.642000													6	14					2.7689e-08	2.89016e-08	1	1	0
GEMIN2	8487	broad.mit.edu	37	14	39587279	39587279	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr14:39587279C>T	ENST00000308317.6	+	3	415	c.332C>T	c.(331-333)tCa>tTa	p.S111L	GEMIN2_ENST00000250379.8_Missense_Mutation_p.S111L|GEMIN2_ENST00000396249.2_Missense_Mutation_p.S111L	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	111					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GCACAGTTTTCAACTGTTCGA	0.388000													5	12					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061768	29061768	+	RNA	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:29061768G>C	ENST00000582557.1	+	0	688																											TAACTTTCTTGATGTAAATAT	0.303000													8	11					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75587667	75587667	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:75587667C>T	ENST00000502798.2	+	8	1765	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	SV2C_ENST00000322285.7_Silent_p.F441F|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	441					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTGTTTGGTTCACCCTGTCCT	0.353000													31	11					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175093	112175093	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:112175093C>G	ENST00000457016.1	+	16	4182	c.3802C>G	c.(3802-3804)Cca>Gca	p.P1268A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P1268A|APC_ENST00000508376.2_Missense_Mutation_p.P1268A			P25054	APC_HUMAN	adenomatous polyposis coli	1268	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAGATACTCCAATATGTTT	0.373000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			19	5					0	0	1	0	0
C15orf40	123207	broad.mit.edu	37	15	83680308	83680308	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:83680308G>A	ENST00000513601.2	-	1	59	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	C15orf40_ENST00000538348.2_Missense_Mutation_p.R18W|C15orf40_ENST00000565712.1_Missense_Mutation_p.R18W|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_5'UTR|C15orf40_ENST00000451195.3_Missense_Mutation_p.R18W			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	0										large_intestine(3)|lung(2)|skin(1)	6						GCGGAGCCCCGAGTATTGGGT	0.687000											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160836387	160836387	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:160836387C>G	ENST00000283243.7	-	14	2428	c.2222G>C	c.(2221-2223)aGa>aCa	p.R741T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R741T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	741	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R741T(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTGGGTTTCTTTTATTAAA	0.418000													16	43					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174188319	174188319	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:174188319G>A	ENST00000251507.4	+	2	198	c.24G>A	c.(22-24)caG>caA	p.Q8Q	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Silent_p.Q8Q	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	8					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTTCATTACAGAAGGTTAGTG	0.358000													30	27					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763678	44763678	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:44763678C>T	ENST00000296091.4	+	4	1625	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	ZNF502_ENST00000449836.1_Missense_Mutation_p.H457Y|ZNF502_ENST00000436624.2_Missense_Mutation_p.H457Y	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TATGAGAATTCATACTGGAGA	0.423000													42	71					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122206565	122206565	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:122206565G>C	ENST00000263710.4	-	17	2044	c.1655C>G	c.(1654-1656)tCa>tGa	p.S552*	CLASP1_ENST00000455322.2_Nonsense_Mutation_p.S552*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.S320*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.S552*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.S552*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.S321*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.S552*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	552	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGAGCGGTCTGACTGAGGCAG	0.443000													16	9					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583255	82583255	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:82583255G>A	ENST00000333891.9	-	5	7351	c.7014C>T	c.(7012-7014)acC>acT	p.T2338T	PCLO_ENST00000423517.2_Silent_p.T2338T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T2338T(2)|p.T2269T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATCAAACACGGTTTCGGATA	0.418000													15	118					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80012512	80012512	+	Silent	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:80012512G>T	ENST00000392358.2	+	4	904	c.555G>T	c.(553-555)ctG>ctT	p.L185L	GPS1_ENST00000355130.2_Silent_p.L185L|GPS1_ENST00000306823.6_Silent_p.L149L|GPS1_ENST00000320548.4_Silent_p.L129L|GPS1_ENST00000578552.1_Silent_p.L145L	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	149					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACACAGACCTGAAGAACTACA	0.647000													3	26					0.115264	0.116076	1	1	0
TMPRSS4	56649	broad.mit.edu	37	11	117973950	117973950	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:117973950G>A	ENST00000534111.1	+	4	551	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.E58K|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.E98K|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.E98K	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	98	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GAGCTTCCCCGAAGGGCCTGC	0.632000													21	85					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5213865	5213865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:5213865C>T	ENST00000256496.3	+	3	481	c.235C>T	c.(235-237)Cga>Tga	p.R79*	ARL8B_ENST00000419534.2_Nonsense_Mutation_p.R79*|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_Intron	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	79					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	p.R79*(1)		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)		ACCCCGATTTCGAAGCATGTG	0.348000													53	231					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42848993	42848993	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:42848993G>A	ENST00000200557.6	+	5	592	c.423G>A	c.(421-423)ggG>ggA	p.G141G	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	141					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCTCCGGGGGAACCCGCACT	0.687000													34	33					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193531	128193531	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:128193531G>A	ENST00000284694.7	-	3	358	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	C10orf90_ENST00000454341.1_Missense_Mutation_p.R80C|C10orf90_ENST00000392694.1_Missense_Mutation_p.R33C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R177C|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R33C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	80										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGATGTGCACGAGACTGAGCA	0.498000													21	121					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006210	72006210	+	Silent	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:72006210G>C	ENST00000370435.4	+	5	626	c.492G>C	c.(490-492)ctG>ctC	p.L164L	RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	164						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTTCCCCCTGAGAGAACAAG	0.303000													25	7					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6035259	6035259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:6035259G>T	ENST00000265849.7	-	8	914	c.809C>A	c.(808-810)tCa>tAa	p.S270*	PMS2_ENST00000406569.3_Nonsense_Mutation_p.S270*|PMS2_ENST00000441476.2_Nonsense_Mutation_p.S164*|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	270					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AATGAAACCTGAGATGCTATT	0.403000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	56					4.36969e-10	4.61156e-10	1	1	0
SH2D4A	63898	broad.mit.edu	37	8	19192363	19192363	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:19192363A>G	ENST00000265807.3	+	4	919	c.508A>G	c.(508-510)Atc>Gtc	p.I170V	SH2D4A_ENST00000518040.1_Missense_Mutation_p.I125V|SH2D4A_ENST00000519207.1_Missense_Mutation_p.I170V	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	170						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGAAGAGAAAATCCGAGTGAG	0.498000													5	32					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179608975	179608975	+	Splice_Site	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:179608975C>T	ENST00000444136.1	+	10	1772	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	TDRD5_ENST00000367614.1_Splice_Site_p.R508C|TDRD5_ENST00000294848.8_Splice_Site_p.R508C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	508					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATTCCACAGGCGCTGTTATTC	0.368000													4	107					0	0	1	0	0
CCDC140	151278	broad.mit.edu	37	2	223168696	223168696	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:223168696G>C	ENST00000295226.1	+	2	459	c.75G>C	c.(73-75)caG>caC	p.Q25H		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	25										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGGAACCAGAGGCAAGAGG	0.547000													6	12					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84228047	84228047	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:84228047G>C	ENST00000324537.5	+	5	604	c.112G>C	c.(112-114)Gac>Cac	p.D38H	SH3GL3_ENST00000427482.2_Missense_Mutation_p.D30H|SH3GL3_ENST00000535412.1_Missense_Mutation_p.D30H|SH3GL3_ENST00000434347.1_Missense_Mutation_p.D38H			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	30	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AACTAAACTAGACGATGAATT	0.289000											OREG0023396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	8					0	0	1	0	0
IZUMO4	113177	broad.mit.edu	37	19	2097131	2097131	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:2097131G>A	ENST00000395307.2	+	1	752	c.187G>A	c.(187-189)Gag>Aag	p.E63K	IZUMO4_ENST00000395301.3_Missense_Mutation_p.E63K|IZUMO4_ENST00000588003.1_3'UTR|IZUMO4_ENST00000395296.1_Missense_Mutation_p.E63K	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	63						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						CACGATGAAGGAGCTGCACCT	0.672000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	22					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30349767	30349767	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr18:30349767C>T	ENST00000359358.4	-	2	1226	c.788G>A	c.(787-789)cGc>cAc	p.R263H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R263H|AC012123.1_ENST00000426194.1_5'UTR	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	263	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAAGCGGAGGCGCTTCATGAG	0.667000													19	37					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2278990	2278990	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:2278990G>A	ENST00000268989.3	+	18	2482	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	SGSM2_ENST00000574563.1_Missense_Mutation_p.D724N|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.D724N	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	724	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTCAAGCCTAGATGAGGGGCA	0.642000													11	35					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	159992710	159992710	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:159992710G>A	ENST00000263635.6	+	5	502	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	TANC1_ENST00000454300.1_Missense_Mutation_p.V89I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	89						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TACAGGTCCCGTCAGGAAGCC	0.483000													29	66					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18098336	18098336	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:18098336A>G	ENST00000399138.4	+	2	843	c.838A>G	c.(838-840)Atc>Gtc	p.I280V	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	280						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCGAGCAGTCATCATCCTCAG	0.502000													11	29					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124360435	124360435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr8:124360435C>A	ENST00000287394.5	-	15	1992	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACACAGTTTTCTGCTAGCTCT	0.303000													12	126					2.27111e-07	2.36195e-07	1	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	66					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49224435	49224435	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:49224435C>G	ENST00000308025.3	-	17	2359	c.2280G>C	c.(2278-2280)aaG>aaC	p.K760N		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	760	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCACCCCACTCTTGCCTGCTC	0.582000													22	39					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060008	54060008	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:54060008C>A	ENST00000312233.2	-	3	1134	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	190					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCGGCCACCACCCTGCCTGCC	0.697000													3	22					0.00909568	0.0091921	1	1	0
BCCIP	56647	broad.mit.edu	37	10	127529849	127529849	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:127529849G>C	ENST00000299130.3	+	7	812	c.800G>C	c.(799-801)gGa>gCa	p.G267A	BCCIP_ENST00000368759.5_Missense_Mutation_p.G267A|DHX32_ENST00000368721.1_Intron|DHX32_ENST00000284688.6_Intron|DHX32_ENST00000284690.3_Intron|BCCIP_ENST00000429863.2_Missense_Mutation_p.G237A	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	0					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGGTGCTTGGAGGTCCAGAC	0.438000													17	22					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956036	18956036	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:18956036T>C	ENST00000302797.3	-	1	520	c.296A>G	c.(295-297)tAt>tGt	p.Y99C	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	99					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATCACAGGATAGAGGATTTT	0.537000													48	109					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705320	189705320	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:189705320C>G	ENST00000319332.5	-	5	1291	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R184T	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	365					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCACCTCTCTGGCCTCAAT	0.413000													26	20					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227041	43227041	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:43227041C>T	ENST00000332499.2	+	1	2358	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	162	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAAGAAGAAGCGGCATTGGAA	0.552000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590530	179590530	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:179590530C>T	ENST00000589042.1	-	70	20743	c.20519G>A	c.(20518-20520)gGa>gAa	p.G6840E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5596E|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6523E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6523	Ig-like 50.						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)			AGTATCACTTCCCACTTCATT	0.363000													7	45					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122795651	122795651	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:122795651C>T	ENST00000227349.2	+	4	1208	c.911C>T	c.(910-912)gCc>gTc	p.A304V	C11orf63_ENST00000531316.1_Missense_Mutation_p.A304V	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	304										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATTCAGAATGCCAAGGAAATG	0.403000													10	62					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772275	51772275	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:51772275G>A	ENST00000251076.5	-	25	6913	c.6626C>T	c.(6625-6627)tCa>tTa	p.S2209L	DMXL2_ENST00000543779.2_Missense_Mutation_p.S2209L|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1573L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2209						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATACTTGCTGAAAGCAGAGG	0.363000													29	81					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784919	91784919	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:91784919G>A	ENST00000370425.3	-	24	2709	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	HFM1_ENST00000370424.3_Missense_Mutation_p.P550S|HFM1_ENST00000294696.5_Missense_Mutation_p.P103S|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	871	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTTGTATGGGAATGCATCCT	0.363000													12	41					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698251	195698251	+	RNA	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:195698251C>T	ENST00000427841.1	-	0	1621					NR_003264.2																						CAGCAAATCTCAATTTGTCAA	0.433000													10	111					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80422187	80422187	+	Translation_Start_Site	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:80422187G>A	ENST00000390006.4	+	0	430				NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_De_novo_Start_InFrame|NARF_ENST00000345415.7_Intron|NARF_ENST00000309794.11_Missense_Mutation_p.D45N|NARF_ENST00000457415.3_Missense_Mutation_p.D45N	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAAGTTGGCTGATGCCAAGAT	0.438000													48	95					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112173723	112173723	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:112173723C>T	ENST00000457016.1	+	16	2812	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S811L|APC_ENST00000508376.2_Missense_Mutation_p.S811L			P25054	APC_HUMAN	adenomatous polyposis coli	811	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S811*(6)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAATAGGTCAGACAATTTT	0.383000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			42	16					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263638	140263638	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:140263638C>T	ENST00000289272.2	+	1	1785	c.1785C>T	c.(1783-1785)cgC>cgT	p.R595R	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.R595R|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGGTGCGCGCGGTGGACG	0.706000													24	51					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895171	39895171	+	Silent	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:39895171G>A	ENST00000373186.4	-	1	284	c.147C>T	c.(145-147)ttC>ttT	p.F49F	MOCS1_ENST00000373175.4_Silent_p.F20F|MOCS1_ENST00000373188.2_Silent_p.F49F|MOCS1_ENST00000308559.7_Silent_p.F49F|MOCS1_ENST00000425303.2_Silent_p.F49F|MOCS1_ENST00000340692.5_Silent_p.F49F|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000432280.2_Silent_p.F20F	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	49	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTCCCGCAGGAACTGCCTCC	0.657000													5	17					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7890164	7890164	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:7890164C>A	ENST00000377532.3	+	18	3381	c.3157C>A	c.(3157-3159)Ctg>Atg	p.L1053M	PER3_ENST00000361923.2_Missense_Mutation_p.L1044M			P56645	PER3_HUMAN	period circadian clock 3	1044	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCACTGTTCTGTCCACGGG	0.542000													31	35					5.91797e-21	6.3391e-21	1	1	0
DCC	1630	broad.mit.edu	37	18	51025831	51025831	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr18:51025831G>A	ENST00000442544.2	+	27	4678	c.4062G>A	c.(4060-4062)atG>atA	p.M1354I	DCC_ENST00000581580.1_Missense_Mutation_p.M987I|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1354					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)		CTCCACCAATGAGTGCAATAG	0.478000													20	68					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007296	70007296	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:70007296C>T	ENST00000355303.5	+	17	1913	c.1608C>T	c.(1606-1608)ggC>ggT	p.G536G	ANO1_ENST00000530676.1_Silent_p.G390G|ANO1_ENST00000398543.2_Silent_p.G390G|ANO1_ENST00000531349.1_Silent_p.G245G|ANO1_ENST00000316296.5_Silent_p.G478G|ANO1_ENST00000538023.1_Silent_p.G536G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	536					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCGTCCTCGGCGTCATCATCT	0.632000													15	44					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387208	22387208	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:22387208G>C	ENST00000263160.3	+	7	1301	c.864G>C	c.(862-864)gaG>gaC	p.E288D		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	288					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCATTGGAGAGAGTGCAAATC	0.378000													10	56					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28739683	28739683	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:28739683C>G	ENST00000422425.2	+	2	108	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	PLB1_ENST00000327757.5_Missense_Mutation_p.Q22E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	22					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGGACCCCTCAGATCCATAC	0.488000													23	44					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454727	114454727	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:114454727C>G	ENST00000369563.3	+	4	1959	c.1513C>G	c.(1513-1515)Ctt>Gtt	p.L505V	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	505					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCAAATATCTTCTGACTCC	0.498000								Other identified genes with known or suspected DNA repair function					24	111					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36156472	36156472	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chrX:36156472C>G	ENST00000313548.4	+	10	1337	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		CAGATTGAGTCTCATTTTATA	0.279000													9	15					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728645	20728645	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:20728645C>T	ENST00000427401.4	-	4	458	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	122					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACCTTACACTCATCTACACTT	0.328000													7	49					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2136224	2136224	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr16:2136224G>C	ENST00000219476.3	+	37	5323	c.4693G>C	c.(4693-4695)Gag>Cag	p.E1565Q	TSC2_ENST00000568454.1_Missense_Mutation_p.E1509Q|TSC2_ENST00000401874.2_Missense_Mutation_p.E1498Q|TSC2_ENST00000382538.6_Missense_Mutation_p.E1450Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E1522Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E1462Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E1542Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1565	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGTCCAATGAGCATGGCTC	0.672000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	45					0	0	1	0	0
UBE2D1	7321	broad.mit.edu	37	10	60123412	60123412	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:60123412A>G	ENST00000373910.4	+	4	391	c.164A>G	c.(163-165)cAt>cGt	p.H55R		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CTCACTGTACATTTTCCGACA	0.313000													21	85					0	0	1	0	0
BATF3	55509	broad.mit.edu	37	1	212870373	212870373	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:212870373C>G	ENST00000243440.1	-	2	347	c.125G>C	c.(124-126)aGa>aCa	p.R42T	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	42					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		GTTTTTTTCTCTCCTTCGGAC	0.557000													19	60					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108062880	108062880	+	Silent	SNP	T	T	C	rs139779135	by1000genomes	TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr11:108062880T>C	ENST00000278612.8	-	4	360	c.255A>G	c.(253-255)ctA>ctG	p.L85L	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	85	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTTCTTCCATAGAGATGACA	0.328000													36	53					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4055075	4055075	+	Silent	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:4055075C>T	ENST00000322357.4	-	2	434	c.156G>A	c.(154-156)ctG>ctA	p.L52L	ZBTB7A_ENST00000601588.1_Silent_p.L52L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	52	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGGCGGCCAGCACCGAGC	0.657000													24	26					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697																											TCAGAGCTGCTGTCCAACCTG	0.587000													3	29					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724870	138724870	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:138724870C>G	ENST00000383163.2	-	1	240	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	81										endometrium(3)|kidney(1)|lung(7)	11						GGCGGGAGCTCCAGCACCAGG	0.682000													6	6					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639932	101639932	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:101639932G>A	ENST00000342239.3	-	16	4347	c.4256C>T	c.(4255-4257)aCc>aTc	p.T1419I	DNMBP_ENST00000540316.1_Missense_Mutation_p.T331I|DNMBP_ENST00000324109.4_Missense_Mutation_p.T1395I|DNMBP_ENST00000543621.1_Missense_Mutation_p.T641I			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1395	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGACCCCGAGGTAAAGGATAC	0.562000													52	106					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28884772	28884772	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr16:28884772G>A	ENST00000337120.5	+	9	5293	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	SH2B1_ENST00000322610.8_Silent_p.P634P|SH2B1_ENST00000395532.4_Missense_Mutation_p.D668N|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000538342.1_Missense_Mutation_p.D332N|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	0					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ATCCAGAACCGACCACCTCCC	0.637000													8	23					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693012	99693012	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:99693012C>G	ENST00000303887.5	-	12	2322	c.1677G>C	c.(1675-1677)atG>atC	p.M559I	MCM7_ENST00000354230.3_Missense_Mutation_p.M383I|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	559	Interaction with RAD17.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCTCCTACCTCATGAGCTTCA	0.567000													18	13					0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49976952	49976952	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr6:49976952C>T	ENST00000393660.2	-	2	87	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	33					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TCGCATCTTTCAAATCTATAC	0.318000													3	51					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80012828	80012828	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:80012828G>C	ENST00000392358.2	+	5	1133	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	GPS1_ENST00000355130.2_Missense_Mutation_p.E262Q|GPS1_ENST00000306823.6_Missense_Mutation_p.E226Q|GPS1_ENST00000320548.4_Missense_Mutation_p.E206Q|GPS1_ENST00000578552.1_Missense_Mutation_p.E222Q	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	226					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGCAAGGCTGAGTCCACCCC	0.647000													13	72					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121870	103121870	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:103121870G>A	ENST00000295269.4	+	4	1595	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	380					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAGAATCACGAGTGGAACTG	0.537000													32	33					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326466	142326466	+	RNA	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr7:142326466C>G	ENST00000390393.3	+	0	104																											attccaGCCTCTGACAAACTC	0.512000													4	19					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799756	130799756	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:130799756C>G	ENST00000509018.1	-	18	2663	c.2458G>C	c.(2458-2460)Gat>Cat	p.D820H	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D870H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.D535H|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.D820H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D820H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D825H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D820H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D820H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	820	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGAATTCTATCAGCTAATTTG	0.383000													7	27					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1715324	1715324	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:1715324C>G	ENST00000305513.7	-	3	387	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	74							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGTTTCCTTCTTCTCTGTAG	0.398000													36	90					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061933	29061933	+	RNA	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr17:29061933G>C	ENST00000582557.1	+	0	853																											CAGATCTATAGATTTCTTTGA	0.299000													95	73					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						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)				GGTTGAAGAATGGCTAAAAGC	0.413000													4	155					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127529899	127529899	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:127529899G>A	ENST00000299130.3	+	7	862	c.850G>A	c.(850-852)Ggt>Agt	p.G284S	BCCIP_ENST00000368759.5_Splice_Site_p.G284S|DHX32_ENST00000368721.1_Intron|DHX32_ENST00000284688.6_Intron|DHX32_ENST00000284690.3_Intron|BCCIP_ENST00000429863.2_Missense_Mutation_p.G254S	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	0					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACAGCACAATGGTTGGTCTGT	0.433000													24	23					0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250252	23250252	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:23250252G>A	ENST00000396703.1	+	2	242	c.62G>A	c.(61-63)gGa>gAa	p.G21E	UBE2E2_ENST00000425792.1_Missense_Mutation_p.G21E	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	21					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						AGTTCCGATGGAGATCAACGT	0.398000													14	63					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679003	73679003	+	Silent	SNP	G	G	C			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:73679003G>C	ENST00000264448.6	+	8	5457	c.5346G>C	c.(5344-5346)ctG>ctC	p.L1782L	ALMS1_ENST00000377715.1_Silent_p.L1782L|ALMS1_ENST00000409009.1_Silent_p.L1740L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1782	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGGCTCTGAAAGTTTCAA	0.428000													54	112					0	0	1	0	0
SNHG12	85028	broad.mit.edu	37	1	28906819	28906820	+	RNA	INS	-	-	A	rs147786269		TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr1:28906819_28906820insA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							gactccgtctcaaaaaaaaaaa	0.490													4	8	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													8	448	---	---	---	---					
TGFBR2	7048	broad.mit.edu	37	3	30715724	30715724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:30715724delG	ENST00000295754.5	+	5	1764	c.1382delG	c.(1381-1383)tgtfs	p.C461fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.C486fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	461	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACATCTCGCTGTAATGCAGTG	0.458													18	86	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129389304	129389305	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr3:129389304_129389305insT	ENST00000393238.3	-	4	1719_1720	c.1379_1380insA	c.(1378-1380)gatfs	p.D460fs	TMCC1_ENST00000426664.2_Frame_Shift_Ins_p.D346fs|TMCC1_ENST00000329333.5_Frame_Shift_Ins_p.D281fs|TMCC1_ENST00000432054.2_Frame_Shift_Ins_p.D136fs	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	460						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GTAGTAGTGCATCAAATCCTGA	0.510													26	48	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176684067	176684068	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr5:176684067_176684068insA	ENST00000439151.2	+	13	4926_4927	c.4881_4882insA	c.(4882-4884)atgfs	p.M1628fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.M1359fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.M1359fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.M1525fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1628					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CACCCACTGTTATGCAGAACAA	0.450			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	6	---	---	---	---					
WAC	51322	broad.mit.edu	37	10	28824671	28824674	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr10:28824671_28824674delAGAG	ENST00000375664.4	+	3	733_736	c.124_127delAGAG	c.(124-129)agagagfs	p.RE42fs	WAC_ENST00000354911.4_Frame_Shift_Del_p.RE87fs|WAC_ENST00000347934.4_Frame_Shift_Del_p.RE87fs|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375646.1_Frame_Shift_Del_p.RE42fs|WAC_ENST00000428935.1_Frame_Shift_Del_p.RE42fs			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.E88fs*106(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCACAGAGTTAGAGAGAGGGATGG	0.387													22	43	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220126	133220127	+	In_Frame_Ins	INS	-	-	GCC			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr12:133220126_133220127insGCC	ENST00000320574.5	-	34	4353_4354	c.4310_4311insGGC	c.(4309-4311)gcc>gcGGCc	p.1437_1437A>AA	POLE_ENST00000535270.1_In_Frame_Ins_p.1410_1410A>AA	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1437					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGTGCACCAGGGCCCGGAACAG	0.609								DNA polymerases (catalytic subunits)					44	161	---	---	---	---					
IGHV1OR16-2	28314	broad.mit.edu	37	16	32989896	32989897	+	RNA	DEL	TA	TA	-			TCGA-ZF-A9R9-01A-11D-A38G-08	TCGA-ZF-A9R9-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b388656-2e1e-44a4-907d-1e744ebc0f74	08071482-b628-4ef8-9987-3ab254d87a72	g.chr16:32989896_32989897delTA	ENST00000567619.1	-	0	499																											TCCACTCCTGTATTCTCTCCAC	0.510													3	5	---	---	---	---