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
GOLGA2	2801	broad.mit.edu	37	9	131019750	131019750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:131019750C>T	ENST00000421699.2	-	25	2704	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E886K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	898						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCATGCCACTCGTTGCGGTCG	0.662000													47	7					0	0	0.014410	0	0
MCTS1	28985	broad.mit.edu	37	X	119739341	119739341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:119739341G>A	ENST00000371315.3	+	2	627	c.94G>A	c.(94-96)Gag>Aag	p.E32K	MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Missense_Mutation_p.E31K	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	31					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCAATTGATAGAGCAATTTCC	0.338000													75	9					0	0	0.014410	0	0
PANK4	55229	broad.mit.edu	37	1	2440291	2440291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:2440291C>T	ENST00000378466.3	-	19	2329	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	PANK4_ENST00000435556.3_Missense_Mutation_p.E734K	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	773					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCGCCTCACTCGGCTGGGACC	0.567000													23	18					0	0	0.006320	0	0
CDH1	999	broad.mit.edu	37	16	68847234	68847234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:68847234G>A	ENST00000261769.5	+	9	1347	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	386	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.E386*(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCAGGTGCCTGAGAACGAGGC	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				60	67					0	0	0.014410	0	0
TRPC4	7223	broad.mit.edu	37	13	38211379	38211379	+	Missense_Mutation	SNP	G	G	T	rs146885289		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:38211379G>T	ENST00000379705.3	-	11	3452	c.2595C>A	c.(2593-2595)ttC>ttA	p.F865L	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.F692L|TRPC4_ENST00000338947.5_Missense_Mutation_p.F692L|TRPC4_ENST00000379681.3_Missense_Mutation_p.F870L|TRPC4_ENST00000358477.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	865	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.F865F(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAACAGAGAAGATTTGGT	0.413000													7	79					5.18039e-06	5.2912e-06	0.003080	1	0
SPATA18	132671	broad.mit.edu	37	4	52945953	52945953	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:52945953C>T	ENST00000295213.4	+	9	1597	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	SPATA18_ENST00000419395.2_Missense_Mutation_p.P376L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	408					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTTCATTCCCTCCTGTCGTT	0.438000													128	159					0	0	0.014410	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													5	60					0	0	0.016723	0	0
ADAM29	11086	broad.mit.edu	37	4	175898670	175898670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:175898670G>A	ENST00000359240.3	+	5	2664	c.1994G>A	c.(1993-1995)gGc>gAc	p.G665D	ADAM29_ENST00000514159.1_Missense_Mutation_p.G665D|ADAM29_ENST00000445694.1_Missense_Mutation_p.G665D|ADAM29_ENST00000404450.4_Missense_Mutation_p.G665D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	665					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGACAGTGGCCCACCCCCT	0.393000													29	27					0	0	0.008361	0	0
BAI3	577	broad.mit.edu	37	6	70098735	70098735	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:70098735G>C	ENST00000370598.1	+	32	5342	c.4521G>C	c.(4519-4521)ctG>ctC	p.L1507L	BAI3_ENST00000546190.1_Silent_p.L471L|BAI3_ENST00000238918.8_Silent_p.L713L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1507					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAAGTGTCTGAATTTGCCTC	0.418000													28	28					0	0	0.009535	0	0
MUC16	94025	broad.mit.edu	37	19	9076763	9076763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:9076763C>T	ENST00000397910.4	-	3	10886	c.10683G>A	c.(10681-10683)atG>atA	p.M3561I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3562	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGGTACTCATACCCACTT	0.542000											OREG0007306	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	14	143					0	0	0.024245	0	0
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:24419480C>T	ENST00000330966.7	-	10	1212	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.S349S			Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647000													25	22					0	0	0.018920	0	0
HDAC7	51564	broad.mit.edu	37	12	48179336	48179336	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:48179336C>T	ENST00000599515.1	+	1	631	c.420C>T	c.(418-420)ttC>ttT	p.F140F	HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000080059.7_Intron|HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Intron																							CCCCAGCCTTCTAGCCACAAG	0.577000													10	44					0	0	0.007291	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24506961	24506961	+	RNA	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:24506961C>G	ENST00000558293.1	+	0	176					NR_102693.1																						GGATCGGCTTCGCCGTCGCCC	0.612000													9	64					0	0	0.008291	0	0
GCNT2	2651	broad.mit.edu	37	6	10621627	10621627	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:10621627C>T	ENST00000379597.3	+	2	1525	c.969C>T	c.(967-969)ctC>ctT	p.L323L	GCNT2_ENST00000265012.4_Silent_p.L323L|GCNT2_ENST00000410107.1_Silent_p.L37L|GCNT2_ENST00000316170.3_Silent_p.L321L|GCNT2_ENST00000495262.1_Silent_p.L323L|GCNT2_ENST00000397423.2_3'UTR			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	323						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGGAAACCTCAGAGCTATAA	0.507000													18	28					0	0	0.010504	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4501319	4501319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:4501319G>A	ENST00000301284.4	+	15	1985	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D641N	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		636					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CTCCTCTGAAGACCTGCACGA	0.672000													50	81					0	0	0.014410	0	0
CDC6	990	broad.mit.edu	37	17	38457718	38457718	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:38457718A>G	ENST00000209728.4	+	11	1923		c.e11-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GTTTCCTACCAGTTATATGAA	0.453000													74	113					0	0	0.014410	0	0
TJP3	27134	broad.mit.edu	37	19	3747941	3747941	+	Silent	SNP	C	C	T	rs142779832		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:3747941C>T	ENST00000541714.2	+	19	2934	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D	TJP3_ENST00000382008.3_Silent_p.D838D|TJP3_ENST00000262968.9_Silent_p.D857D|TJP3_ENST00000587686.1_Silent_p.D843D|TJP3_ENST00000589378.1_Silent_p.D833D|TJP3_ENST00000539908.2_Silent_p.D788D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	838						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACACAGACGGCGAGGGGG	0.697000													31	60					0	0	0.010818	0	0
LRPAP1	4043	broad.mit.edu	37	4	3516518	3516518	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:3516518G>A	ENST00000500728.2	-	7	1118	c.972C>T	c.(970-972)caC>caT	p.H324H	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	324	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCAGCAGGGCGTGCTTCTCGC	0.672000													21	153					0	0	0.012213	0	0
ZNF155	7711	broad.mit.edu	37	19	44501575	44501575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:44501575G>C	ENST00000270014.2	+	5	1694	c.1566G>C	c.(1564-1566)aaG>aaC	p.K522N	ZNF155_ENST00000590615.1_Missense_Mutation_p.K522N|ZNF155_ENST00000407951.2_Missense_Mutation_p.K533N|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	522						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GACGCTACAAGAGGCGCTTGA	0.403000													38	68					0	0	0.023175	0	0
RTFDC1	51507	broad.mit.edu	37	20	55049784	55049784	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:55049784A>T	ENST00000023939.4	+	3	322	c.215A>T	c.(214-216)gAa>gTa	p.E72V	RTFDC1_ENST00000357348.5_Missense_Mutation_p.E102V|RTFDC1_ENST00000395881.3_Missense_Mutation_p.E72V	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2			replication termination factor 2 domain containing 1																		AAATCTGCAGAAAAGGCTCTT	0.378000													52	92					0	0	0.014410	0	0
PANK3	79646	broad.mit.edu	37	5	167986163	167986163	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:167986163C>T	ENST00000239231.6	-	6	1253		c.e6-1		PANK3_ENST00000520504.1_Splice_Site	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGTTTATTTTCTAAAAGAAAA	0.249000													29	19					0	0	0.006320	0	0
DMBT1	1755	broad.mit.edu	37	10	124339372	124339372	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:124339372A>T	ENST00000338354.3	+	10	1064	c.958A>T	c.(958-960)Acc>Tcc	p.T320S	DMBT1_ENST00000330163.4_Missense_Mutation_p.T320S|DMBT1_ENST00000368956.2_Missense_Mutation_p.T320S|DMBT1_ENST00000368955.3_Missense_Mutation_p.T320S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.T320S|DMBT1_ENST00000368909.3_Missense_Mutation_p.T320S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	320	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCACCCACAACTG	0.572000													34	89					0	0	0.027894	0	0
ATP12A	479	broad.mit.edu	37	13	25283562	25283562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:25283562C>T	ENST00000218548.6	+	18	2905	c.2572C>T	c.(2572-2574)Cgc>Tgc	p.R858C	ATP12A_ENST00000381946.3_Missense_Mutation_p.R852C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	852					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGAAGCCTCGCCACAAGAA	0.557000													34	37					0	0	0.015359	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308000													11	37					0	0	0.016723	0	0
POLM	27434	broad.mit.edu	37	7	44113402	44113402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:44113402G>A	ENST00000242248.5	-	9	1395	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	POLM_ENST00000395831.3_Missense_Mutation_p.L352F|POLM_ENST00000335195.6_Missense_Mutation_p.L395F	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	432					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GTCCAACCGAGCAGGGCGAAA	0.657000								DNA polymerases (catalytic subunits)					31	140					0	0	0.012213	0	0
RORC	6097	broad.mit.edu	37	1	151785462	151785462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:151785462C>T	ENST00000356728.6	-	8	1337	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RORC_ENST00000318247.6_Missense_Mutation_p.E416K|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.E470K	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	416	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGCAATCTCATCCTCGGAA	0.517000													28	50					0	0	0.006320	0	0
SP4	6671	broad.mit.edu	37	7	21550696	21550696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:21550696C>G	ENST00000222584.3	+	6	2382	c.2164C>G	c.(2164-2166)Ctc>Gtc	p.L722V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	722					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAGTGATCATCTCTCCAAACA	0.413000													38	41					0	0	0.019004	0	0
ITM2A	9452	broad.mit.edu	37	X	78616969	78616969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:78616969C>T	ENST00000434584.2	-	4	764	c.428G>A	c.(427-429)aGa>aAa	p.R143K	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.R187K	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	187	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGCAGATATCTGCCACTCTA	0.343000													11	26					0	0	0.008291	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													11	209					0	0	0.013537	0	0
RPL18	6141	broad.mit.edu	37	19	49119427	49119427	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:49119427G>A	ENST00000549273.1	-	5	363	c.330C>T	c.(328-330)cgC>cgT	p.R110R	RPL18_ENST00000552588.1_Silent_p.R81R|RPL18_ENST00000549920.1_Silent_p.R110R|RPL18_ENST00000550645.1_Intron			Q07020	RL18_HUMAN	ribosomal protein L18	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GGATGCGGCTGCGGGCCCGGC	0.667000													76	86					0	0	0.014410	0	0
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27302012C>G	ENST00000380320.4	+	1	578	c.79C>G	c.(79-81)Cga>Gga	p.R27G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	27					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716000													16	14					0	0	0.006122	0	0
ASL	435	broad.mit.edu	37	7	65553885	65553885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:65553885C>T	ENST00000450043.1	+	2	115	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	ASL_ENST00000304874.9_Silent_p.F270F|ASL_ENST00000395331.3_Silent_p.F270F|ASL_ENST00000380839.4_Silent_p.F244F|ASL_ENST00000395332.3_Silent_p.F270F																							AATTCAGCTTCGTGCAGCTCT	0.617000													38	41					0	0	0.017118	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	24					0	0	0.006320	0	0
ASF1A	25842	broad.mit.edu	37	6	119221997	119221997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:119221997C>T	ENST00000229595.5	+	2	370	c.176C>T	c.(175-177)tCt>tTt	p.S59F	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	59	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GTTTTAGACTCTGTTTTAGTG	0.358000													82	110					0	0	0.014410	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													5	55					0	0	0.014758	0	0
UBR3	130507	broad.mit.edu	37	2	170917627	170917627	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:170917627G>A	ENST00000272793.5	+	34	4874	c.4824G>A	c.(4822-4824)ctG>ctA	p.L1608L	UBR3_ENST00000392631.1_Silent_p.L429L|UBR3_ENST00000418381.1_Silent_p.L1608L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1608					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAGTATTACTGAGCTTTGTGA	0.318000													8	90					0	0	0.004482	0	0
FCHO1	23149	broad.mit.edu	37	19	17897393	17897393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:17897393G>A	ENST00000594202.1	+	27	2716	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	FCHO1_ENST00000597512.1_Missense_Mutation_p.E820K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E813K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E813K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E813K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E813K|FCHO1_ENST00000596536.1_Missense_Mutation_p.E813K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E763K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E813K	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	813										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAACCTGGAGGAGAAGCGGCT	0.612000													17	25					0	0	0.004990	0	0
TAF1	6872	broad.mit.edu	37	X	70621446	70621446	+	Silent	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:70621446A>G	ENST00000449580.1	+	25	3903	c.3852A>G	c.(3850-3852)caA>caG	p.Q1284Q	TAF1_ENST00000423759.1_Silent_p.Q1305Q|TAF1_ENST00000373790.4_Silent_p.Q1284Q|TAF1_ENST00000276072.3_Silent_p.Q1305Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1284					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTATTATCAAACAAATGCGC	0.438000													17	60					0	0	0.028581	0	0
THSD1	55901	broad.mit.edu	37	13	52952895	52952895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952895G>A	ENST00000349258.4	-	4	1595	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	THSD1_ENST00000258613.4_Nonsense_Mutation_p.Q404*|THSD1_ENST00000544466.1_Nonsense_Mutation_p.Q25*	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	404	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCCTGGGGCTGAAGAGGAGAT	0.428000													26	46					0	0	0.027356	0	0
DXO	1797	broad.mit.edu	37	6	31938905	31938905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938905C>G	ENST00000375349.3	-	3	787	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	DXO_ENST00000337523.5_Missense_Mutation_p.E126Q|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_Missense_Mutation_p.E126Q					decapping exoribonuclease	126																	ACTATGGCCTCTGCCAGCCAG	0.592000													44	74					0	0	0.014410	0	0
C1orf54	79630	broad.mit.edu	37	1	150248969	150248969	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:150248969A>G	ENST00000369102.1	+	6	999	c.229A>G	c.(229-231)Acc>Gcc	p.T77A	C1orf54_ENST00000369099.3_Missense_Mutation_p.T77A|C1orf54_ENST00000369098.3_Missense_Mutation_p.T77A			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	77						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATAGAGACTACCATTAGTCT	0.453000													39	57					0	0	0.007835	0	0
INTS5	80789	broad.mit.edu	37	11	62415961	62415961	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:62415961C>T	ENST00000330574.2	-	2	1643	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	531					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAACTCAACTCTTCAGGGCTT	0.622000													110	141					0	0	0.014410	0	0
FAP	2191	broad.mit.edu	37	2	163029727	163029727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:163029727G>C	ENST00000188790.4	-	24	2246	c.2039C>G	c.(2038-2040)tCa>tGa	p.S680*	FAP_ENST00000443424.1_Nonsense_Mutation_p.S655*	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	680					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CATCACAGTTGAATTCTGGAA	0.348000													34	55					0	0	0.019004	0	0
DOT1L	84444	broad.mit.edu	37	19	2222507	2222507	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2222507C>T	ENST00000398665.3	+	24	3375	c.3339C>T	c.(3337-3339)gtC>gtT	p.V1113V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1113						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCCGTCGCTGGCCTTT	0.687000													37	40					0	0	0.010771	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522534	32522534	+	RNA	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:32522534C>G	ENST00000411500.1	-	0	672					NR_001298.1																						CCTCTCCACTCCGAGGAACTG	0.517000													29	93					0	0	0.007291	0	0
MMP3	4314	broad.mit.edu	37	11	102709926	102709926	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:102709926C>T	ENST00000299855.5	-	7	1240	c.984G>A	c.(982-984)ttG>ttA	p.L328L		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	328	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATGAAGAGATCAAATGCAATT	0.358000													50	70					0	0	0.014410	0	0
CLUH	23277	broad.mit.edu	37	17	2605306	2605306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:2605306C>T	ENST00000570628.2	-	4	512	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	CLUH_ENST00000538975.1_Missense_Mutation_p.R136Q|CLUH_ENST00000435359.1_Missense_Mutation_p.R136Q					clustered mitochondria (cluA/CLU1) homolog																		GAGCAGGTCTCGGACATGGCG	0.622000													25	45					0	0	0.018920	0	0
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:105361169A>C	ENST00000453495.1	+	19	4875	c.4647A>C	c.(4645-4647)tcA>tcC	p.S1549S	CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S					centrosomal protein 170B									p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711000													7	24					0	0	0.021523	0	0
DUOX2	50506	broad.mit.edu	37	15	45399061	45399061	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:45399061G>A	ENST00000389039.6	-	15	2185	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DUOX2_ENST00000603300.1_Silent_p.I600I			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	600					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAATGATGGTGATGGCAAAAC	0.597000													7	11					0	0	0.001984	0	0
DXO	1797	broad.mit.edu	37	6	31938495	31938495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938495C>G	ENST00000375349.3	-	4	1111	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	DXO_ENST00000337523.5_Missense_Mutation_p.E234Q|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_Missense_Mutation_p.E234Q					decapping exoribonuclease	234																	CAGTCTACCTCCCCTGAGAAG	0.617000													85	105					0	0	0.014410	0	0
CLDN14	23562	broad.mit.edu	37	21	37833619	37833619	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:37833619G>A	ENST00000399137.1	-	3	1241	c.375C>T	c.(373-375)ttC>ttT	p.F125F	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Silent_p.F125F|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000342108.2_Silent_p.F125F|CLDN14_ENST00000399139.1_Silent_p.F125F|CLDN14_ENST00000399136.1_Silent_p.F125F	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	125					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						CGGCCAGGATGAAGAGGGTGC	0.647000													78	146					0	0	0.014410	0	0
HSPBP1	23640	broad.mit.edu	37	19	55773977	55773977	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:55773977C>G	ENST00000255631.5	-	9	1389	c.1079G>C	c.(1078-1080)tGa>tCa	p.*360S	HSPBP1_ENST00000376343.3_Nonstop_Mutation_p.*258S|HSPBP1_ENST00000587922.1_Nonstop_Mutation_p.*360S|HSPBP1_ENST00000433386.2_Nonstop_Mutation_p.*360S	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	0					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTGGTTTCACCGATCCAT	0.622000													14	21					0	0	0.024245	0	0
PRSS54	221191	broad.mit.edu	37	16	58320015	58320015	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320015G>A	ENST00000219301.4	-	5	742	c.348C>T	c.(346-348)atC>atT	p.I116I	PRSS54_ENST00000543437.1_Silent_p.I17I|PRSS54_ENST00000567164.1_Silent_p.I116I	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	116	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCATGGATGATGATGGTAT	0.458000													72	111					0	0	0.014410	0	0
SAMM50	25813	broad.mit.edu	37	22	44364695	44364695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:44364695C>T	ENST00000350028.4	+	4	476	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	107					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACACATGTCAAGGTACATA	0.408000													16	83					0	0	0.004990	0	0
INTS5	80789	broad.mit.edu	37	11	62415960	62415960	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:62415960T>A	ENST00000330574.2	-	2	1644	c.1592A>T	c.(1591-1593)gAg>gTg	p.E531V		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	531					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAAACTCAACTCTTCAGGGCT	0.622000													112	140					0	0	0.014410	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249093	140249093	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:140249093C>G	ENST00000398640.2	+	1	405	c.405C>G	c.(403-405)ctC>ctG	p.L135L	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTCGCTCAGAGAACAAA	0.517000													202	261					0	0	0.014410	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333766	28333766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:28333766C>T	ENST00000377255.3	+	7	1618	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.L293F|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L441F	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	441					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AAGTTCACATCTCCTGAGACA	0.498000													26	35					0	0	0.024334	0	0
ELP3	55140	broad.mit.edu	37	8	27995406	27995406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:27995406G>C	ENST00000256398.8	+	10	1475	c.1098G>C	c.(1096-1098)caG>caC	p.Q366H	ELP3_ENST00000542181.1_Missense_Mutation_p.Q237H|ELP3_ENST00000524103.1_Missense_Mutation_p.Q294H|ELP3_ENST00000521015.1_Missense_Mutation_p.Q352H|ELP3_ENST00000537665.1_Missense_Mutation_p.Q247H|ELP3_ENST00000380353.4_Missense_Mutation_p.Q274H	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	366					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACCGAGTACAGAGGTAGTGTG	0.408000													11	13					0	0	0.008291	0	0
FBXL18	80028	broad.mit.edu	37	7	5541202	5541202	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:5541202A>G	ENST00000382368.3	-	3	821	c.698T>C	c.(697-699)tTc>tCc	p.F233S	FBXL18_ENST00000453700.3_Missense_Mutation_p.F233S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	233									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGCGCATAGAAGACCCGCAG	0.642000													13	87					0	0	0.013537	0	0
CAND2	23066	broad.mit.edu	37	3	12858614	12858614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:12858614C>T	ENST00000456430.2	+	10	2224	c.2183C>T	c.(2182-2184)tCt>tTt	p.S728F	CAND2_ENST00000295989.5_Missense_Mutation_p.S635F	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCAGCCTCTTTGGTGGAG	0.652000													65	81					0	0	0.014410	0	0
CCDC93	54520	broad.mit.edu	37	2	118731529	118731529	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:118731529G>C	ENST00000376300.2	-	11	980	c.843C>G	c.(841-843)ctC>ctG	p.L281L	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Silent_p.L280L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	281										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGCAGAGCAGAGTCCCACAA	0.542000													11	17					0	0	0.016723	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630462	43630462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:43630462C>T	ENST00000431635.2	-	9	1035	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.R241Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	241					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTATACCGTCGTTTAGCACT	0.468000													17	100					0	0	0.004990	0	0
CNBD1	168975	broad.mit.edu	37	8	87878760	87878760	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:87878760C>G	ENST00000518476.1	+	1	88	c.37C>G	c.(37-39)Cac>Gac	p.H13D		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	13										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATTTTGTCTCACATGACAGC	0.443000													12	13					0	0	0.016723	0	0
PDZD8	118987	broad.mit.edu	37	10	119043793	119043793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:119043793C>A	ENST00000334464.5	-	5	2690	c.2451G>T	c.(2449-2451)ttG>ttT	p.L817F		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	817					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCTTCAACCAAATGGGGTT	0.368000													4	63					0.00909568	0.00919193	0.009096	1	0
NBPF8	728841	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:144220807A>C	ENST00000369373.5	+	2	74	c.74A>C	c.(73-75)gAt>gCt	p.D25A						neuroblastoma breakpoint family, member 8																		GAGCTGCTGGATGAGAAAGAG	0.483000													21	120					0	0	0.021523	0	0
CNTLN	54875	broad.mit.edu	37	9	17466028	17466028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:17466028C>T	ENST00000380647.3	+	22	3665	c.3581C>T	c.(3580-3582)tCa>tTa	p.S1194L	CNTLN_ENST00000262360.5_Missense_Mutation_p.S1194L|CNTLN_ENST00000425824.1_Missense_Mutation_p.S1194L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1194						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCAATTGATTCACTAAAGCAA	0.299000													27	6					0	0	0.027356	0	0
HS3ST4	9951	broad.mit.edu	37	16	26146939	26146939	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:26146939G>A	ENST00000331351.5	+	2	1133	c.741G>A	c.(739-741)gtG>gtA	p.V247V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	247					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTAGAAATGTGATGCCCAAGA	0.423000													25	30					0	0	0.018920	0	0
GYS2	2998	broad.mit.edu	37	12	21716178	21716178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:21716178G>A	ENST00000261195.2	-	6	1179	c.925C>T	c.(925-927)Cga>Tga	p.R309*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	309					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAATGACCTCGAACAAAATCT	0.323000													13	83					0	0	0.004990	0	0
RFX2	5990	broad.mit.edu	37	19	6007099	6007099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6007099C>T	ENST00000303657.5	-	12	1475	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Nonsense_Mutation_p.W442*|RFX2_ENST00000592546.1_Nonsense_Mutation_p.W417*	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTCCTCATCCACCTGAGGA	0.657000													67	98					0	0	0.014410	0	0
TP53INP1	94241	broad.mit.edu	37	8	95953097	95953097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:95953097C>G	ENST00000342697.4	-	2	480	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	TP53INP1_ENST00000448464.2_Missense_Mutation_p.E25Q|TP53INP1_ENST00000378776.4_Missense_Mutation_p.E25Q|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	25	Glu-rich.				apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TCTTCTTTCTCATTGAATTCT	0.398000													37	57					0	0	0.023175	0	0
AHCTF1	25909	broad.mit.edu	37	1	247057966	247057966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:247057966C>G	ENST00000366508.1	-	14	2040	c.1904G>C	c.(1903-1905)aGa>aCa	p.R635T	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R609T|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R600T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	600	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTACATAGTCTGTCAAATTC	0.303000													21	22					0	0	0.018920	0	0
EXOC3	11336	broad.mit.edu	37	5	454125	454125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:454125G>C	ENST00000512944.1	+	4	1194	c.1005G>C	c.(1003-1005)gaG>gaC	p.E335D	EXOC3_ENST00000315013.5_Missense_Mutation_p.E335D	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	346					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGCCAATGAGATCGTGAGCC	0.542000													11	19					0	0	0.020292	0	0
MAPK15	225689	broad.mit.edu	37	8	144803972	144803972	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:144803972G>A	ENST00000338033.4	+	13	1499	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	460					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGCTGCGGCTCAGGTGG	0.687000													14	130					0	0	0.016723	0	0
FRAS1	80144	broad.mit.edu	37	4	79403578	79403578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:79403578C>G	ENST00000264895.6	+	58	9081	c.8641C>G	c.(8641-8643)Ccg>Gcg	p.P2881A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2876	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTCAGTATCCGGTAATTGA	0.453000													93	130					0	0	0.014410	0	0
MICAL2	9645	broad.mit.edu	37	11	12234924	12234924	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:12234924C>G	ENST00000256194.4	+	7	1102	c.814C>G	c.(814-816)Cag>Gag	p.Q272E	MICAL2_ENST00000379612.3_Missense_Mutation_p.Q272E|MICAL2_ENST00000342902.5_Missense_Mutation_p.Q272E|MICAL2_ENST00000537344.1_Missense_Mutation_p.Q272E|MICAL2_ENST00000527546.1_Missense_Mutation_p.Q272E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	272						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCTTCAATCAGAAATTTTT	0.463000													76	125					0	0	0.014410	0	0
CDH22	64405	broad.mit.edu	37	20	44815269	44815269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44815269C>T	ENST00000372262.3	-	9	2021	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CDH22_ENST00000537909.1_Missense_Mutation_p.E541K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTGGGAGCTTCAGGCACCAGG	0.592000													60	67					0	0	0.014410	0	0
ZNF658	26149	broad.mit.edu	37	9	40773179	40773179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:40773179G>C	ENST00000602553.1	-	5	2390	c.2096C>G	c.(2095-2097)tCa>tGa	p.S699*	ZNF658_ENST00000377626.3_Nonsense_Mutation_p.S699*|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGGGCTGAATTATGGGC	0.408000													35	145					0	0	0.007835	0	0
CHD6	84181	broad.mit.edu	37	20	40049283	40049283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:40049283C>G	ENST00000373233.3	-	31	6169	c.5992G>C	c.(5992-5994)Gaa>Caa	p.E1998Q		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1998					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCAAGGTTCTTTTAAAAGC	0.418000													57	75					0	0	0.014410	0	0
ATM	472	broad.mit.edu	37	11	108117799	108117799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:108117799G>A	ENST00000278616.4	+	8	1395	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	ATM_ENST00000452508.2_Missense_Mutation_p.R337H	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.F336_A340del(1)|p.R337H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGGATTTCGTAATATTGCC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			25	32					0	0	0.024334	0	0
UBXN4	23190	broad.mit.edu	37	2	136519444	136519444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:136519444C>T	ENST00000272638.9	+	6	876	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	189					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ATGCTCAGATCAGAGACCTGC	0.388000													19	26					0	0	0.016522	0	0
PRLR	5618	broad.mit.edu	37	5	35065622	35065622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:35065622C>G	ENST00000382002.5	-	10	1864	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.E379Q|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.E379Q|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	480					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGAAGCTTTCTACCTCCCTC	0.498000													52	77					0	0	0.014410	0	0
AMOTL1	154810	broad.mit.edu	37	11	94599320	94599320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:94599320G>A	ENST00000433060.2	+	11	2616	c.2475G>A	c.(2473-2475)tgG>tgA	p.W825*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.W775*|AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.W412*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	825						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGAAGACCTGGAAGGGGAGCA	0.552000													20	25					0	0	0.008871	0	0
KIAA1217	56243	broad.mit.edu	37	10	24810779	24810779	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:24810779C>T	ENST00000376451.2	+	7	1686	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	KIAA1217_ENST00000376462.1_Silent_p.L713L|KIAA1217_ENST00000396446.1_Silent_p.L476L|KIAA1217_ENST00000458595.1_Silent_p.L758L|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Silent_p.L476L|KIAA1217_ENST00000376454.3_Silent_p.L793L|KIAA1217_ENST00000307544.6_Silent_p.L476L|KIAA1217_ENST00000376452.3_Silent_p.L758L			Q5T5P2	SKT_HUMAN	KIAA1217	793					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGTGCGGTTTCTGAAGGAGGA	0.577000													39	62					0	0	0.013114	0	0
AATF	26574	broad.mit.edu	37	17	35343960	35343960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:35343960C>T	ENST00000225402.5	+	5	1128	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	293	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GGTAGGTCTTCAGGAAGAGTT	0.413000													23	70					0	0	0.021523	0	0
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|LRTM2_ENST00000543730.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652000													96	100					0	0	0.014410	0	0
PRKCG	5582	broad.mit.edu	37	19	54403679	54403679	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54403679C>T	ENST00000263431.3	+	13	1662	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PRKCG_ENST00000542049.1_Silent_p.Y347Y|PRKCG_ENST00000540413.1_Silent_p.Y460Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGGTTCTACGCGGCAGAAA	0.597000													25	92					0	0	0.006320	0	0
PTPN2	5771	broad.mit.edu	37	18	12814236	12814236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:12814236C>T	ENST00000309660.5	-	7	917	c.824G>A	c.(823-825)gGa>gAa	p.G275E	PTPN2_ENST00000327283.3_Missense_Mutation_p.G275E|PTPN2_ENST00000591497.1_Missense_Mutation_p.G246E|PTPN2_ENST00000353319.4_Missense_Mutation_p.G275E|PTPN2_ENST00000591115.1_Missense_Mutation_p.G298E	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	275	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				ACATTTTGCTCCTTCTATTAT	0.323000													4	51					0	0	0.009096	0	0
ZNF667	63934	broad.mit.edu	37	19	56969551	56969551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:56969551C>A	ENST00000591790.1	-	4	1654	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF667_ENST00000504904.3_Nonsense_Mutation_p.E76*|ZNF667_ENST00000342634.3_Nonsense_Mutation_p.E169*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.E76*			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACTGGCTCTACCATCCAG	0.473000													18	40					6.49762e-13	6.70835e-13	0.006122	1	0
VPS26B	112936	broad.mit.edu	37	11	134114848	134114848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:134114848C>G	ENST00000281187.5	+	5	1216	c.738C>G	c.(736-738)atC>atG	p.I246M	VPS26B_ENST00000525095.2_Missense_Mutation_p.I246M	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	246					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CCATCCCGATCCGGCTCTTCC	0.582000											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	67					0	0	0.009718	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:110015235C>T	ENST00000309415.6	+	4	1135	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CACCAAGAAACGCCACTCCTT	0.597000													16	40					0	0	0.024245	0	0
F8	2157	broad.mit.edu	37	X	154194885	154194885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:154194885C>G	ENST00000360256.4	-	8	1287	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	363					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATAGTCTTCCGCTTCTTCA	0.413000													44	6					0	0	0.011902	0	0
ZNF16	7564	broad.mit.edu	37	8	146171568	146171568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:146171568C>T	ENST00000276816.4	-	3	211	c.25G>A	c.(25-27)Gag>Aag	p.E9K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E9K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTCCTCACGGCGAGTT	0.592000													52	57					0	0	0.014410	0	0
OAS3	4940	broad.mit.edu	37	12	113385903	113385903	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:113385903C>T	ENST00000228928.7	+	5	1207	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	343	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGAAGGGGCCGGTAAGTGAG	0.567000													18	32					0	0	0.010504	0	0
OR2Y1	134083	broad.mit.edu	37	5	180167034	180167034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:180167034C>G	ENST00000307832.2	-	1	65	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCATCTTCAAAACTGGTG	0.438000													23	37					0	0	0.018920	0	0
ICAM5	7087	broad.mit.edu	37	19	10403332	10403332	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:10403332G>A	ENST00000221980.4	+	5	1069	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	336					cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAGCGTCTCCGAGGGGCAGAT	0.657000													36	55					0	0	0.017118	0	0
SH3TC1	54436	broad.mit.edu	37	4	8224616	8224616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:8224616G>A	ENST00000539824.1	+	10	1308	c.934G>A	c.(934-936)Gag>Aag	p.E312K	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E388K			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	388	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ATTCTTCAGCGAGGGCTGCTT	0.488000													40	53					0	0	0.023175	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404977	59404977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:59404977C>G	ENST00000301645.3	-	5	1287	c.1150G>C	c.(1150-1152)Gat>Cat	p.D384H		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	384					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGATGTCATCTTTTCGGATG	0.468000									Neonatal Giant Cell Hepatitis				52	73					0	0	0.014410	0	0
REEP1	65055	broad.mit.edu	37	2	86459784	86459784	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:86459784T>A	ENST00000165698.5	-	6	702	c.559A>T	c.(559-561)Atg>Ttg	p.M187L	REEP1_ENST00000538924.1_Missense_Mutation_p.M194L|REEP1_ENST00000541910.1_Missense_Mutation_p.R108S|REEP1_ENST00000535845.1_Missense_Mutation_p.M160L|REEP1_ENST00000540790.1_Missense_Mutation_p.M166L	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	187					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTCCTGGACATCTTAGGCTGG	0.647000													25	31					0	0	0.027356	0	0
TMCC2	9911	broad.mit.edu	37	1	205240950	205240950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:205240950G>T	ENST00000358024.3	+	5	2217	c.1828G>T	c.(1828-1830)Gag>Tag	p.E610*	TMCC2_ENST00000329800.7_Nonsense_Mutation_p.E370*|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.E385*|TMCC2_ENST00000545499.1_Nonsense_Mutation_p.E532*	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	610						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGCCGTGGAGTCCTGCCT	0.647000													80	94					7.81431e-29	8.24604e-29	0.014410	1	0
CBLB	868	broad.mit.edu	37	3	105400433	105400433	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:105400433G>C	ENST00000264122.4	-	16	2639	c.2318C>G	c.(2317-2319)tCt>tGt	p.S773C	CBLB_ENST00000403724.1_3'UTR|CBLB_ENST00000394027.3_Intron|CBLB_ENST00000407712.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.S773C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	773	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACGGGATCAGAGGCTGAATC	0.423000			Mis S		AML								36	74					0	0	0.025465	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													9	115					7.48243e-07	7.68357e-07	0.006214	1	0
BRCA2	675	broad.mit.edu	37	13	32910686	32910686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:32910686G>C	ENST00000544455.1	+	11	2421	c.2194G>C	c.(2194-2196)Gag>Cag	p.E732Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E732Q	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	732	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATAAAAGAAGAGGTCTTGGC	0.373000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	29					0	0	0.027356	0	0
THSD1	55901	broad.mit.edu	37	13	52952331	52952331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952331G>A	ENST00000349258.4	-	4	2159	c.1615C>T	c.(1615-1617)Ccg>Tcg	p.P539S	THSD1_ENST00000258613.4_Missense_Mutation_p.P592S|THSD1_ENST00000544466.1_Missense_Mutation_p.P213S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	592						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCTGCTCCGGAAATGGGGAT	0.582000													68	83					0	0	0.014410	0	0
CHD8	57680	broad.mit.edu	37	14	21894345	21894345	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:21894345G>C	ENST00000399982.2	-	4	1722	c.1658C>G	c.(1657-1659)tCa>tGa	p.S553*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.S553*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.S274*|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	553					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCACATCTGAATTATCAGA	0.373000													15	16					0	0	0.024245	0	0
PCIF1	63935	broad.mit.edu	37	20	44569785	44569785	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44569785C>G	ENST00000372409.3	+	7	976	c.612C>G	c.(610-612)ctC>ctG	p.L204L		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	204						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGAACTGCTCCGCTCTCAGC	0.617000													67	97					0	0	0.014410	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702774	27702774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:27702774C>T	ENST00000438700.3	-	1	523	c.406G>A	c.(406-408)Gcg>Acg	p.A136T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	136					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGGGTGCGCGCCCACCTGC	0.667000													56	56					0	0	0.014410	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32551898	32551898	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:32551898C>T	ENST00000360004.5	-	2	463	c.358G>A	c.(358-360)Gtg>Atg	p.V120M		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGCCGCTGCACTGTGAAGCTC	0.622000										Multiple Myeloma(14;0.17)			7	15					0	0	0.003080	0	0
FAT1	2195	broad.mit.edu	37	4	187541182	187541182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:187541182G>C	ENST00000441802.2	-	10	6767	c.6558C>G	c.(6556-6558)ttC>ttG	p.F2186L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2186	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACTGTAGAAAGGTTTTT	0.512000										HNSCC(5;0.00058)			62	72					0	0	0.014410	0	0
ADAM19	8728	broad.mit.edu	37	5	156946865	156946865	+	Silent	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:156946865G>T	ENST00000257527.4	-	6	660	c.582C>A	c.(580-582)acC>acA	p.T194T	ADAM19_ENST00000394020.1_Silent_p.T196T|ADAM19_ENST00000517905.1_Silent_p.T194T|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	194					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGCTTCTTGGTCTGTTGTG	0.542000													53	91					3.07002e-29	3.25763e-29	0.014410	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	52					0	0	0.009096	0	0
DNM1L	10059	broad.mit.edu	37	12	32873665	32873665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:32873665C>T	ENST00000452533.2	+	8	972	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	DNM1L_ENST00000549701.1_Nonsense_Mutation_p.Q270*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.Q270*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.Q283*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.Q283*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.Q270*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.Q283*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.Q67*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	270	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCTTTTCTTCAAAAGAAATA	0.348000													31	53					0	0	0.009535	0	0
ZNF548	147694	broad.mit.edu	37	19	57910375	57910375	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:57910375C>T	ENST00000366197.5	+	3	970	c.720C>T	c.(718-720)ttC>ttT	p.F240F	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.F252F|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCCAATTTCATGAAACATC	0.393000													23	37					0	0	0.014323	0	0
C14orf182	283551	broad.mit.edu	37	14	50472404	50472404	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:50472404C>T	ENST00000399206.1	-	1	1834	c.114G>A	c.(112-114)ccG>ccA	p.P38P	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	38			P -> L (in dbSNP:rs6572635).							large_intestine(2)|urinary_tract(1)	3						AAAGACCTCTCGGTTCGTGAA	0.537000													140	180					0	0	0.014410	0	0
RHOT2	89941	broad.mit.edu	37	16	723543	723543	+	Silent	SNP	C	C	T	rs140204401		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:723543C>T	ENST00000315082.4	+	19	1908	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	598	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGGGGGTTGTCGGGGCCGCCG	0.627000													127	144					0	0	0.014410	0	0
GPR108	56927	broad.mit.edu	37	19	6735965	6735965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6735965C>G	ENST00000264080.7	-	3	271	c.245G>C	c.(244-246)gGg>gCg	p.G82A	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	82						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGACTGAACCCCACCTGGTG	0.562000											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	0.028581	0	0
TG	7038	broad.mit.edu	37	8	134042190	134042190	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:134042190C>T	ENST00000220616.4	+	41	7201	c.7161C>T	c.(7159-7161)ggC>ggT	p.G2387G	TG_ENST00000519543.1_Silent_p.G520G|TG_ENST00000377869.1_Silent_p.G2330G|TG_ENST00000542445.1_Silent_p.G757G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2387					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGACCGTGGCGGGGCTGATG	0.647000													6	50					0	0	0.006214	0	0
PCIF1	63935	broad.mit.edu	37	20	44569786	44569786	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44569786C>T	ENST00000372409.3	+	7	977	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	205						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGAACTGCTCCGCTCTCAGCT	0.612000													65	98					0	0	0.014410	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911608	24911608	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:24911608C>T	ENST00000313367.2	-	3	628	c.177G>A	c.(175-177)ctG>ctA	p.L59L	OSBPL3_ENST00000352860.1_Silent_p.L59L|OSBPL3_ENST00000431825.2_Silent_p.L59L|OSBPL3_ENST00000396431.1_Silent_p.L59L|OSBPL3_ENST00000409069.1_Silent_p.L59L|OSBPL3_ENST00000353930.1_Silent_p.L59L|OSBPL3_ENST00000396429.1_Silent_p.L59L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	59	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCTCTTTTTCAGCAAAAATC	0.502000													28	61					0	0	0.008361	0	0
LYST	1130	broad.mit.edu	37	1	235966211	235966211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:235966211C>T	ENST00000389794.3	-	8	3883	c.3709G>A	c.(3709-3711)Gat>Aat	p.D1237N	LYST_ENST00000536965.1_Missense_Mutation_p.D1237N|LYST_ENST00000389793.2_Missense_Mutation_p.D1237N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1237					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTTACCATCATCCTGGGTT	0.348000													4	35					0	0	0.014758	0	0
SEC24D	9871	broad.mit.edu	37	4	119736285	119736285	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:119736285G>A	ENST00000379735.5	-	6	973	c.702C>T	c.(700-702)ggC>ggT	p.G234G	SEC24D_ENST00000280551.6_Silent_p.G233G|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	233	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACAGTTGTGCGCCTGCCATCT	0.512000													45	38					0	0	0.009718	0	0
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:56478817G>A	ENST00000267101.3	+	3	713	c.273G>A	c.(271-273)atG>atA	p.M91I	ERBB3_ENST00000411731.2_Missense_Mutation_p.M91I|ERBB3_ENST00000415288.2_Missense_Mutation_p.M32I|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	91					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.M91I(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473000													57	107					0	0	0.014410	0	0
TEKT5	146279	broad.mit.edu	37	16	10721530	10721530	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:10721530G>C	ENST00000283025.2	-	7	1439	c.1368C>G	c.(1366-1368)atC>atG	p.I456M	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	456					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGTTGGCCTTGATGGCGAGCT	0.647000													73	83					0	0	0.014410	0	0
DOT1L	84444	broad.mit.edu	37	19	2213964	2213964	+	Silent	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2213964C>A	ENST00000398665.3	+	18	1812	c.1776C>A	c.(1774-1776)ctC>ctA	p.L592L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	592						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCGCGCTCCGCGGCCAGA	0.672000													59	61					3.00063e-23	3.1318e-23	0.014410	1	0
SPIN4	139886	broad.mit.edu	37	X	62570437	62570437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:62570437C>G	ENST00000374884.2	-	1	786	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.E88Q			Q56A73	SPIN4_HUMAN	spindlin family, member 4	88					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CGGTGCAGTTCTAGTCCATAC	0.488000													7	18					0	0	0.001984	0	0
PAQR4	124222	broad.mit.edu	37	16	3021898	3021898	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:3021898C>T	ENST00000318782.8	+	3	1201	c.771C>T	c.(769-771)ggC>ggT	p.G257G	PAQR4_ENST00000576565.1_Silent_p.G190G|PAQR4_ENST00000572687.1_Silent_p.G183G|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Silent_p.G190G|PAQR4_ENST00000293978.8_Silent_p.G218G	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	257						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGCACGCCGGCGTCGTGCCCG	0.672000													42	64					0	0	0.014410	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131890543	131890543	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:131890543C>G	ENST00000403716.1	+	6	962	c.402C>G	c.(400-402)gcC>gcG	p.A134A	PLEKHB2_ENST00000409279.1_Silent_p.A134A|PLEKHB2_ENST00000538982.1_Silent_p.A86A|PLEKHB2_ENST00000409158.1_Silent_p.A134A|PLEKHB2_ENST00000438882.2_Silent_p.A134A|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000234115.6_Silent_p.A134A|PLEKHB2_ENST00000404460.1_Silent_p.A134A|PLEKHB2_ENST00000303908.3_Silent_p.A134A|PLEKHB2_ENST00000409612.1_Silent_p.A134A	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	134						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CATACACGGCCTATGCTGCAC	0.562000													40	55					0	0	0.014410	0	0
ZNF429	353088	broad.mit.edu	37	19	21720805	21720805	+	Silent	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:21720805T>C	ENST00000358491.4	+	4	2158	c.1950T>C	c.(1948-1950)caT>caC	p.H650H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	650			H -> Y (in dbSNP:rs2562473).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						tggtggctcatgcctgtaatc	0.488000													6	74					0	0	0.004482	0	0
SERPINB6	5269	broad.mit.edu	37	6	2954877	2954877	+	Missense_Mutation	SNP	C	C	T	rs146252067		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:2954877C>T	ENST00000380520.1	-	3	2373	c.379G>A	c.(379-381)Gta>Ata	p.V127I	SERPINB6_ENST00000380546.3_Missense_Mutation_p.V127I|SERPINB6_ENST00000380524.1_Missense_Mutation_p.V127I|SERPINB6_ENST00000380539.1_Missense_Mutation_p.V127I|SERPINB6_ENST00000335686.5_Missense_Mutation_p.V127I|SERPINB6_ENST00000380529.1_Missense_Mutation_p.V127I			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	127					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTCTCTACGGCGCTGATA	0.393000													49	74					0	0	0.014410	0	0
AGFG2	3268	broad.mit.edu	37	7	100151029	100151029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:100151029C>T	ENST00000300176.4	+	4	613	c.491C>T	c.(490-492)cCt>cTt	p.P164L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCCACCCCTGTGCAGGGC	0.547000													66	96					0	0	0.014410	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101585389	101585389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:101585389G>A	ENST00000310954.6	-	9	1859	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	525	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAAGCAGGGAGAAAAATAT	0.418000													18	27					0	0	0.004990	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				25	6					0	0	0.014410	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688596	3688596	+	Missense_Mutation	SNP	G	G	A	rs140976405		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:3688596G>A	ENST00000250699.2	-	4	832	c.761C>T	c.(760-762)gCg>gTg	p.A254V	CHRNA10_ENST00000534359.1_Missense_Mutation_p.R72C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	254					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCGAGCGGCGCAAGCAGCGA	0.697000													30	30					0	0	0.010818	0	0
HLCS	3141	broad.mit.edu	37	21	38126600	38126600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:38126600C>T	ENST00000399120.1	-	12	3358	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	HLCS_ENST00000336648.4_Missense_Mutation_p.D710N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	710					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAGTTGCCGTCCGGGTGCACA	0.637000													8	41					0	0	0.003080	0	0
PRSS54	221191	broad.mit.edu	37	16	58320044	58320044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320044G>A	ENST00000219301.4	-	5	713	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	PRSS54_ENST00000543437.1_Missense_Mutation_p.H8Y|PRSS54_ENST00000567164.1_Missense_Mutation_p.H107Y	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	107	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACTCTGTGTGAGCAATCTTG	0.453000													68	96					0	0	0.014410	0	0
DACH1	1602	broad.mit.edu	37	13	72147065	72147065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:72147065C>T	ENST00000305425.4	-	4	1634	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	DACH1_ENST00000359684.2_Missense_Mutation_p.M456I|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	454					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATCTGGCTCATTGCCATGG	0.453000													33	47					0	0	0.010818	0	0
RUSC1	23623	broad.mit.edu	37	1	155292628	155292628	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:155292628C>T	ENST00000368352.5	+	2	1215	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S355L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	355						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.S355*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCCCCCCCTCGGGGTCGCCG	0.701000													52	47					0	0	0.014410	0	0
CENPB	1059	broad.mit.edu	37	20	3765860	3765860	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:3765860T>A	ENST00000379751.4	-	1	1477	c.1271A>T	c.(1270-1272)gAa>gTa	p.E424V		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	424	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ctcctcctcttcctctccttc	0.582000													18	37					0	0	0.004990	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													4	33					0	0	0.014758	0	0
EPS15L1	58513	broad.mit.edu	37	19	16532171	16532171	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:16532171G>A	ENST00000602009.1	-	4	1342	c.447C>T	c.(445-447)ttC>ttT	p.F149F	EPS15L1_ENST00000597937.1_Silent_p.F303F|EPS15L1_ENST00000248070.6_Silent_p.F303F|EPS15L1_ENST00000455140.2_Silent_p.F303F|EPS15L1_ENST00000594975.1_Silent_p.F303F|EPS15L1_ENST00000535753.2_Silent_p.F303F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	303	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCGAGTGCATGAAGATCTCCT	0.577000													48	43					0	0	0.014410	0	0
MRPS34	65993	broad.mit.edu	37	16	1822511	1822511	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:1822511T>C	ENST00000177742.3	-	3	419	c.389A>G	c.(388-390)aAg>aGg	p.K130R	MRPS34_ENST00000397375.2_Missense_Mutation_p.K123R			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	123						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCTCTCAGTCTTCCCTGATGA	0.627000													12	321					0	0	0.020292	0	0
AIPL1	23746	broad.mit.edu	37	17	6337283	6337283	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:6337283A>G	ENST00000381129.3	-	2	312	c.232T>C	c.(232-234)Tcc>Ccc	p.S78P	AIPL1_ENST00000574506.1_Missense_Mutation_p.S66P|AIPL1_ENST00000570466.1_Missense_Mutation_p.S56P|AIPL1_ENST00000575265.1_Missense_Mutation_p.S78P|AIPL1_ENST00000571740.1_Missense_Mutation_p.S78P|AIPL1_ENST00000250087.5_Missense_Mutation_p.S78P|AIPL1_ENST00000576776.1_Missense_Mutation_p.S78P|AIPL1_ENST00000576307.1_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	78	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCCGCATGGAGGTAAGCAGG	0.597000													13	48					0	0	0.020292	0	0
THSD1	55901	broad.mit.edu	37	13	52952573	52952573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952573G>C	ENST00000349258.4	-	4	1917	c.1373C>G	c.(1372-1374)tCt>tGt	p.S458C	THSD1_ENST00000258613.4_Missense_Mutation_p.S511C|THSD1_ENST00000544466.1_Missense_Mutation_p.S132C	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	511						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCGCTGCCAGAGGCATCATC	0.602000													66	100					0	0	0.014410	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578845	141578845	+	Silent	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:141578845T>C	ENST00000442267.2	-	12	2117	c.2043A>G	c.(2041-2043)ctA>ctG	p.L681L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	681	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGAGAAATAGTGTGAGGA	0.483000													61	60					0	0	0.014410	0	0
GPN2	54707	broad.mit.edu	37	1	27210712	27210712	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:27210712C>G	ENST00000374135.4	-	4	999	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	GPN2_ENST00000374133.3_Missense_Mutation_p.E88Q	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	267							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CTTCGCTGCTCTTGGGCTCTG	0.537000													29	34					0	0	0.006320	0	0
EMILIN1	11117	broad.mit.edu	37	2	27301966	27301966	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27301966C>G	ENST00000380320.4	+	1	532	c.33C>G	c.(31-33)ctC>ctG	p.L11L		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	11					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACCTCTGCTGCCTGC	0.726000													15	15					0	0	0.010504	0	0
EGF	1950	broad.mit.edu	37	4	110866376	110866376	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:110866376G>A	ENST00000265171.5	+	5	1330	c.885G>A	c.(883-885)ctG>ctA	p.L295L	EGF_ENST00000509793.1_Silent_p.L295L|EGF_ENST00000503392.1_Silent_p.L295L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	295					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGGTGAACTGAAAGTAGTGC	0.458000													15	19					0	0	0.004990	0	0
RNF213	57674	broad.mit.edu	37	17	78318808	78318808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:78318808C>T	ENST00000582970.1	+	29	6816	c.6673C>T	c.(6673-6675)Cag>Tag	p.Q2225*	RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q298*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q2274*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGAATTATCAGCTCAGAGA	0.498000													120	141					0	0	0.014410	0	0
RPS2	6187	broad.mit.edu	37	16	2012571	2012571	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:2012571C>T	ENST00000529806.1	-	4	732	c.546G>A	c.(544-546)aaG>aaA	p.K182K	RPS2_ENST00000343262.4_Silent_p.K212K|RPS2_ENST00000530225.1_Intron|RPS2_ENST00000526522.1_Silent_p.K154K			P15880	RS2_HUMAN	ribosomal protein S2	212					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCATGAGCAGCTTCTTAGGCA	0.632000													44	53					0	0	0.014410	0	0
RTFDC1	51507	broad.mit.edu	37	20	55049783	55049783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:55049783G>A	ENST00000023939.4	+	3	321	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	RTFDC1_ENST00000357348.5_Missense_Mutation_p.E102K|RTFDC1_ENST00000395881.3_Missense_Mutation_p.E72K	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2			replication termination factor 2 domain containing 1																		CAAATCTGCAGAAAAGGCTCT	0.383000													52	93					0	0	0.014410	0	0
RPP25	54913	broad.mit.edu	37	15	75248616	75248616	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:75248616G>C	ENST00000322177.5	-	1	1189	c.309C>G	c.(307-309)cgC>cgG	p.R103R	RPP25_ENST00000499788.2_Silent_p.R103R	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	103					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GCCACACCTCGCGTACGCTCC	0.716000													7	18					0	0	0.003080	0	0
INO80C	125476	broad.mit.edu	37	18	33077830	33077830	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:33077830C>T	ENST00000592173.1	-	1	67	c.9G>A	c.(7-9)gcG>gcA	p.A3A	INO80C_ENST00000441607.2_Silent_p.A3A|INO80C_ENST00000334598.7_Silent_p.A3A|RP11-322E11.6_ENST00000589258.1_Silent_p.A3A|INO80C_ENST00000590757.1_Silent_p.A3A			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	3					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						TTGGAATTTGCGCCGCCATCG	0.607000													15	23					0	0	0.007413	0	0
DNMT3L	29947	broad.mit.edu	37	21	45681066	45681066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:45681066G>C	ENST00000270172.3	-	2	560	c.77C>G	c.(76-78)tCa>tGa	p.S26*	DNMT3L_ENST00000418993.1_Nonsense_Mutation_p.S26*	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	26					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AACGGAGCTTGAGAGCTCACT	0.597000													108	148					0	0	0.014410	0	0
STX11	8676	broad.mit.edu	37	6	144508138	144508138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:144508138C>T	ENST00000367568.4	+	2	557	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	125				HSAVAR -> ALGSGG (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	p.A125G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TCGGCAGTGGCGCGCATTTCG	0.672000									Familial Hemophagocytic Lymphohistiocytosis				28	39					0	0	0.006320	0	0
MYH9	4627	broad.mit.edu	37	22	36708249	36708249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:36708249G>C	ENST00000216181.5	-	14	1803	c.1573C>G	c.(1573-1575)Ctg>Gtg	p.L525V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	525	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCAGGGCCAGAATGCCCGGG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	138					0	0	0.024245	0	0
CASZ1	54897	broad.mit.edu	37	1	10714109	10714109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:10714109delG	ENST00000377022.3	-	11	2322	c.2005delC	c.(2005-2007)cacfs	p.H669fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.H669fs|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	669					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)		CGGATGCAGTGGAAGTGGTTG	0.607													12	249	---	---	---	---					
FBXO44	93611	broad.mit.edu	37	1	11721281	11721282	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:11721281_11721282insC	ENST00000376770.1	+	7	1217_1218	c.719_720insC	c.(718-723)ggcccgfs	p.GP240fs	FBXO44_ENST00000376762.4_Frame_Shift_Ins_p.P199fs|FBXO44_ENST00000251547.5_Frame_Shift_Ins_p.GP240fs|FBXO44_ENST00000251546.4_Frame_Shift_Ins_p.P199fs|FBXO44_ENST00000376768.1_Frame_Shift_Ins_p.P231fs|FBXO44_ENST00000376760.1_Frame_Shift_Ins_p.P199fs	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	240	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGGTACGGCCCGAGGGTCA	0.634													7	275	---	---	---	---					
GBP1P1	400759	broad.mit.edu	37	1	89887469	89887469	+	RNA	DEL	G	G	-	rs72379362		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:89887469delG	ENST00000513638.1	+	0	557					NR_003133.2																						ctgtatttctgaaaaaaaaaa	0.318													3	4	---	---	---	---					
MICALL2	79778	broad.mit.edu	37	7	1474248	1474249	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:1474248_1474249insT	ENST00000297508.7	-	17	2873_2874	c.2698_2699insA	c.(2698-2700)agcfs	p.S900fs	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Frame_Shift_Ins_p.S688fs	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	900						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGAGGGGCTGCTTTTGCTTTTT	0.639													7	238	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100352835	100352836	+	RNA	INS	-	-	G	rs145118358	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:100352835_100352836insG	ENST00000542585.1	+	0	3272				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACAGAGGCTGTTTTCCCCTT	0.545													16	288	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15479597	15479609	+	Frame_Shift_Del	DEL	CGTCCTCTTTTAG	CGTCCTCTTTTAG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:15479597_15479609delCGTCCTCTTTTAG	ENST00000380733.4	-	7	876_888	c.533_545delCTAAAAGAGGACG	c.(532-546)cctaaaagaggacgafs	p.PKRGR178fs	PSIP1_ENST00000380715.1_Frame_Shift_Del_p.PKRGR178fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.PKRGR178fs|PSIP1_ENST00000380738.4_Frame_Shift_Del_p.PKRGR178fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.PKRGR178fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	178					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ACCTGCAGGTCGTCCTCTTTTAGGACTCACTTT	0.362													10	17	---	---	---	---					
GATA3	2625	broad.mit.edu	37	10	8115929	8115929	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:8115929delA	ENST00000379328.3	+	6	1846	c.1278delA	c.(1276-1278)ccafs	p.P426fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Frame_Shift_Del_p.P425fs	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	425					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S427fs*>20(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGCACCCGCCATCCAGCCTGT	0.662			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						47	106	---	---	---	---					
SSH3	54961	broad.mit.edu	37	11	67077296	67077312	+	Frame_Shift_Del	DEL	CACAGTGCTGGCCTATG	CACAGTGCTGGCCTATG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:67077296_67077312delCACAGTGCTGGCCTATG	ENST00000308127.4	+	12	1444_1460	c.1266_1282delCACAGTGCTGGCCTATG	c.(1264-1284)gccacagtgctggcctatgccfs	p.ATVLAYA422fs	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Frame_Shift_Del_p.ATVLAYA422fs	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	422	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCAGCGGCCACAGTGCTGGCCTATGCCATGAAGCA	0.664													58	247	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													10	888	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs150133272		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396													7	19	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													7	202	---	---	---	---					
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488													7	15	---	---	---	---					
NPIPA1	9284	broad.mit.edu	37	16	15045471	15045471	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:15045471delG	ENST00000328085.6	+	8	642		c.e8-1		NPIPA1_ENST00000472413.1_Splice_Site	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		TGGCCCTACAGGTCAGAATGG	0.483													17	4	---	---	---	---					
TRPV2	51393	broad.mit.edu	37	17	16326989	16326990	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:16326989_16326990insC	ENST00000338560.7	+	5	1231_1232	c.832_833insC	c.(832-834)gccfs	p.A278fs	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	278	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCAAGCTGGGGCCCGCCTCTGC	0.604													7	150	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													10	10	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccctcc>ccc	p.S172del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000338502.4_In_Frame_Del_p.S128del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													7	109	---	---	---	---					
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-	rs61734492	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54723027_54723029delCGT	ENST00000391750.1	-	9	1531_1533	c.1395_1397delACG	c.(1393-1398)cgacgt>cgt	p.465_466RR>R	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_In_Frame_Del_p.482_483RR>R|LILRB3_ENST00000245620.9_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000346401.6_In_Frame_Del_p.477_478RR>R|LILRA6_ENST00000440558.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000419410.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000270464.5_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000424807.1_In_Frame_Del_p.465_466RR>R			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	465					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.606													11	103	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	8	---	---	---	---					
CELSR1	9620	broad.mit.edu	37	22	46790119	46790120	+	Frame_Shift_Ins	INS	-	-	G	rs142032661	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:46790119_46790120insG	ENST00000262738.3	-	14	5882_5883	c.5883_5884insC	c.(5881-5886)cccgtcfs	p.V1962fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1962	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTCCACAGACGGGGTTCCCCC	0.569													8	139	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44950110	44950110	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:44950110delG	ENST00000377967.4	+	26	3919		c.e26+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAATGATTAAGTAAGTCTTTT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								39	5	---	---	---	---