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
HKDC1	80201	broad.mit.edu	37	10	71007216	71007216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:71007216G>A	ENST00000354624.5	+	9	1265	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	HKDC1_ENST00000395086.2_Missense_Mutation_p.V378I	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	378					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V378I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTACCATCGTCTCCTTCCG	0.582000													13	90					0	0	0.016723	0	0
DMBX1	127343	broad.mit.edu	37	1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	ENST00000371956.4	+	4	760	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	249					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L249F(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627000													59	289					0	0	0.014410	0	0
IREB2	3658	broad.mit.edu	37	15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78777134A>G	ENST00000258886.8	+	12	1594	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.E482G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333000													3	139					0	0	0.004672	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	rs145801611	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	321					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403000													8	162					0	0	0.003080	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312921	42312921	+	Silent	SNP	G	G	A	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	ENST00000357396.3	+	3	736	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.A165A	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	165						integral to membrane		p.A165A(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607000													72	282					0	0	0.014410	0	0
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532000													25	139					0	0	0.021523	0	0
C5orf48	389320	broad.mit.edu	37	5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	ENST00000357147.3	+	1	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	12								p.P12R(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378000													5	170					0	0	0.014758	0	0
EPB41	2035	broad.mit.edu	37	1	29314300	29314300	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Silent_p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	117					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423000													8	286					0	0	0.003080	0	0
ASXL1	171023	broad.mit.edu	37	20	31023728	31023728	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:31023728G>A	ENST00000375687.4	+	13	3637	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	ASXL1_ENST00000306058.5_Silent_p.A1066A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1071					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A1071A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTATGTGCGGTCCGCCAAA	0.567000			"""F, N, Mis"""		"""MDS, CMML"""								52	137					0	0	0.014410	0	0
FAM155A	728215	broad.mit.edu	37	13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	ENST00000375915.2	-	2	1102	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	322						integral to membrane	binding	p.F322L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408000											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	102					0	0	0.018920	0	0
RWDD4	201965	broad.mit.edu	37	4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:184567682C>G	ENST00000326397.5	-	6	762	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R|RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	164								p.G164R(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GGAAGTTCTCCTTTGTGATCT	0.289000													8	254					0	0	0.004482	0	0
UBTF	7343	broad.mit.edu	37	17	42293127	42293127	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000527034.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F|UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000533177.1_Silent_p.F123F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	123					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.F123F(1)|p.F123delF(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493000													51	138					0	0	0.014410	0	0
LPHN3	23284	broad.mit.edu	37	4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	ENST00000512091.1	+	16	3242	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	819	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403000													14	57					9.05144e-12	1.06488e-11	0.016723	1	0
NIPA2	81614	broad.mit.edu	37	15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	ENST00000337451.3	-	8	1156	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	182						early endosome|integral to membrane|plasma membrane		p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502000													3	74					0	0	0.004672	0	0
CCDC150	284992	broad.mit.edu	37	2	197583282	197583282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:197583282G>A	ENST00000389175.4	+	18	2057	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	CCDC150_ENST00000409270.1_Missense_Mutation_p.R128H|CCDC150_ENST00000272831.7_Missense_Mutation_p.R288H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	641								p.R641H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTGTCGTAATGCGGCC	0.428000													17	54					0	0	0.004007	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913387	170913387	+	Silent	SNP	C	C	T	rs141578578		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:170913387C>T	ENST00000361618.3	-	3	679	c.372G>A	c.(370-372)acG>acA	p.T124T	MFAP3L_ENST00000393704.3_Silent_p.T21T|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	124	Ig-like C2-type.					integral to membrane|plasma membrane		p.T124T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGCCACACACGTGTATTTAC	0.512000													7	268					0	0	0.001984	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510998	119510998	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498000													29	86					0	0	0.010818	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803633	160803633	+	Missense_Mutation	SNP	G	G	A	rs143966469		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:160803633G>A	ENST00000392781.2	-	8	1657	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.R64C	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	304					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R304C(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GCAATCACACGTCTCAGTTGA	0.378000													20	72					0	0	0.010504	0	0
WARS2	10352	broad.mit.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:119576827G>A	ENST00000369426.5	-	5	528	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000537870.1_Silent_p.H81H|WARS2_ENST00000235521.4_Silent_p.H175H			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433000													8	140					0	0	0.003080	0	0
APAF1	317	broad.mit.edu	37	12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	ENST00000357310.1	+	4	1088	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	171	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.H171Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383000													5	58					0	0	0.014758	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	ENST00000400113.3	-	5	1251	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A383T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637000													42	85					0	0	0.008740	0	0
KCNT2	343450	broad.mit.edu	37	1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:196459055C>T	ENST00000367433.5	-	3	289	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R63H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289000													51	173					0	0	0.014410	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													4	22					0	0	0.009096	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766663	130766663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:130766663G>A	ENST00000509018.1	-	26	4559	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.Q1465*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.Q1460*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1460*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.Q1502*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1452			Q -> R (in dbSNP:rs1291602).		Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.Q1452*(1)|p.Q1465*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATACTCTCTGTTTAACTGTC	0.463000													73	268					0	0	0.014410	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152099	72152099	+	Missense_Mutation	SNP	G	G	A	rs141106111	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:72152099G>A	ENST00000555818.1	+	10	3473	c.3125G>A	c.(3124-3126)cGc>cAc	p.R1042H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1042H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R517H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1042H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1042	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R1042H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAACCTACCGCATGCCAGTG	0.448000													9	364					0	0	0.006214	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	17					0	0	0.014758	0	0
PLCG2	5336	broad.mit.edu	37	16	81944188	81944188	+	Silent	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	ENST00000359376.3	+	18	2011	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	599	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.Y599Y(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647000													6	230					0	0	0.001168	0	0
IRX1	79192	broad.mit.edu	37	5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	ENST00000302006.3	+	2	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R182C(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632000													22	124					0	0	0.021523	0	0
ARID1A	8289	broad.mit.edu	37	1	27106761	27106761	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	ENST00000324856.7	+	20	6743	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_ENST00000457599.2_Silent_p.K1907K|ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2124					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K2124K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	141					0	0	0.007835	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267452	66267452	+	Silent	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:66267452T>C	ENST00000327268.4	-	6	1013	c.849A>G	c.(847-849)ctA>ctG	p.L283L	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L283L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.L283L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAAGTCTAATAGCGGGGCTT	0.463000													3	123					0	0	0.004672	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	52					0	0	0.014758	0	0
ACTC1	70	broad.mit.edu	37	15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	ENST00000290378.4	-	2	776	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	41					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.R41W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672000													9	47					0	0	0.010729	0	0
HSPG2	3339	broad.mit.edu	37	1	22173919	22173919	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:22173919C>T	ENST00000374695.3	-	62	8171	c.8092G>A	c.(8092-8094)Gcc>Acc	p.A2698T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2698	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.A2698T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTGTTGTTGGCCCGGCACACA	0.642000													4	118					0	0	0.009096	0	0
NSD1	64324	broad.mit.edu	37	5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	ENST00000439151.2	+	5	1516	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000361032.4_Missense_Mutation_p.E388K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	491					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.E491K(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGAAGGAAAAGCCTTG	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	115					0	0	0.007291	0	0
POT1	25913	broad.mit.edu	37	7	124537227	124537227	+	Translation_Start_Site	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:124537227T>C	ENST00000357628.3	-	5	599	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	1					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.M1V(2)|p.M1L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCAAAGACATTGATTCTGTA	0.303000													22	95					0	0	0.014323	0	0
FANCI	55215	broad.mit.edu	37	15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	ENST00000310775.7	+	10	900	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	272					cell cycle|DNA repair	nucleoplasm	protein binding	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	358					0	0	0.004482	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	rs143733086	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization		actin binding|zinc ion binding	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498000													10	408					0	0	0.010729	0	0
RP1	6101	broad.mit.edu	37	8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	ENST00000220676.1	+	4	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	680					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A680V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323000													5	69					0	0	0.001168	0	0
ACOX3	8310	broad.mit.edu	37	4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	ENST00000356406.5	-	4	501	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A|ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	142					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.T142A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403000													4	109					0	0	0.014758	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721017	70721017	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	ENST00000226444.3	-	3	384		c.e3+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTGAACGTTACCATTCATGA	0.318000													10	74					0	0	0.006214	0	0
PDE6A	5145	broad.mit.edu	37	5	149247706	149247706	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:149247706G>A	ENST00000255266.5	-	18	2270	c.2151C>T	c.(2149-2151)acC>acT	p.T717T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	717					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T717T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATCACAGGCGGTCATCATCA	0.547000													6	218					0	0	0.001168	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192755	123192755	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	ENST00000264501.4	+	47	8449	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_ENST00000455637.1_Silent_p.V2692V|KIAA1109_ENST00000388738.3_Silent_p.V2692V			Q2LD37	K1109_HUMAN	KIAA1109	2692					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.V2692V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAATTACAGTGTCAGAACAAA	0.373000													5	89					0	0	0.014758	0	0
ZFAND5	0	broad.mit.edu	37	9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	206							DNA binding|zinc ion binding	p.V206G(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343000													19	104					0	0	0.012319	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017716	26017716	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:26017716C>T	ENST00000244573.3	-	1	324	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	82	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	p.R82H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGCTTAATGCGGCTGTTGTT	0.572000													6	83					0	0	0.001984	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	106					0	0	0.014758	0	0
NF1	4763	broad.mit.edu	37	17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:29528486C>T	ENST00000358273.4	+	11	1626	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	415					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.H415Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTCACTCCATCGAATCAT	0.303000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	286					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2830734	2830734	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:2830734C>T	ENST00000520002.1	-	58	9386	c.8831G>A	c.(8830-8832)cGc>cAc	p.R2944H	CSMD1_ENST00000602557.1_Missense_Mutation_p.R2944H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2885H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2886H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2943H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2886H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2944	Sushi 22.					integral to membrane		p.R2943H(1)|p.R2672H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGAGAAGCGGAGAAGACT	0.537000													55	186					0	0	0.014410	0	0
TRIM36	55521	broad.mit.edu	37	5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	ENST00000513154.1	-	9	1852	c.1526G>A	c.(1525-1527)tGt>tAt	p.C509Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	521	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.C521Y(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368000													25	119					0	0	0.004656	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	ENST00000544627.1	+	14	3701	c.3381G>C	c.(3379-3381)caG>caC	p.Q1127H	ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1119					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.Q1119H(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383000													19	59					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	ENST00000397910.4	-	5	34734	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11513	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H11511Y(1)|p.H7144Y(1)		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						GACTTACTATGGGAAAACTTG	0.498000													53	140					0	0	0.014410	0	0
LRP6	4040	broad.mit.edu	37	12	12302059	12302059	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:12302059G>A	ENST00000261349.4	-	14	3099	c.3023C>T	c.(3022-3024)cCg>cTg	p.P1008L	LRP6_ENST00000543091.1_Missense_Mutation_p.P1008L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1008	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.P1008L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTTCTGACTCGGAACTGAGCT	0.433000													11	390					0	0	0.008291	0	0
NSRP1	84081	broad.mit.edu	37	17	28512652	28512652	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:28512652G>T	ENST00000247026.5	+	7	1700	c.1637G>T	c.(1636-1638)cGg>cTg	p.R546L	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	546					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGATGGCGCGGGTTAATGCA	0.453000													4	172					0.00909568	0.0102487	0.009096	1	0
ASB5	140458	broad.mit.edu	37	4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	ENST00000296525.3	-	1	243	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	44					intracellular signal transduction			p.V44L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393000													7	128					0	0	0.001984	0	0
ZNRF2	223082	broad.mit.edu	37	7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	ENST00000323037.4	+	4	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	239						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.H239N(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294000													19	106					8.34094e-07	9.67065e-07	0.008871	1	0
OSBPL10	114884	broad.mit.edu	37	3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	ENST00000396556.2	-	10	2099	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	659					lipid transport		lipid binding	p.W659*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433000													72	242					0	0	0.014410	0	0
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTGAGTCCGCATGCCAATG	0.507000													5	344					0	0	0.001984	0	0
CIB2	10518	broad.mit.edu	37	15	78403582	78403582	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78403582G>A	ENST00000258930.3	-	3	451	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	41							calcium ion binding	p.L41L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607000													7	128					0	0	0.001984	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:51022077G>A	ENST00000599957.1	-	3	1090	c.893C>T	c.(892-894)aCg>aTg	p.T298M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	298						cell junction|integral to membrane|presynaptic membrane		p.T298M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637000													27	113					0	0	0.013726	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	ENST00000279263.7	+	4	646	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	170					0	0	0.014410	0	0
PAX5	5079	broad.mit.edu	37	9	36923352	36923352	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910_splice	c.e7+1	p.G304_splice	PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Splice_Site_p.G304_splice|PAX5_ENST00000446742.1_Splice_Site_p.G238_splice|PAX5_ENST00000523145.1_Splice_Site_p.G196_splice|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Splice_Site_p.G261_splice|PAX5_ENST00000414447.1_Splice_Site_p.G261_splice|PAX5_ENST00000522003.1_Splice_Site_p.G196_splice|PAX5_ENST00000377852.2_Splice_Site_p.G304_splice|PAX5_ENST00000377853.2_Splice_Site_p.G304_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	304		Breakpoint for translocation to form PAX5-ZNF521.			cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								40	131					3.54561e-26	4.23356e-26	0.009718	1	0
SALL4	57167	broad.mit.edu	37	20	50401031	50401031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:50401031C>T	ENST00000217086.4	-	4	3046	c.2935G>A	c.(2935-2937)Ggt>Agt	p.G979S	SALL4_ENST00000395997.3_Missense_Mutation_p.G542S|SALL4_ENST00000371539.3_Missense_Mutation_p.G202S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	979					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G979S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGGCCAGACCGCCATTGAGC	0.547000													25	160					0	0	0.016522	0	0
NBAS	51594	broad.mit.edu	37	2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	ENST00000281513.5	-	17	1874	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	617								p.A617T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413000													52	254					0	0	0.014410	0	0
FAM169A	26049	broad.mit.edu	37	5	74091853	74091853	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:74091853A>G	ENST00000389156.4	-	11	1351		c.e11+1		FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A									p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTGATCTCATACCTTTTCACC	0.368000													5	371					0	0	0.001984	0	0
WDR7	23335	broad.mit.edu	37	18	54603078	54603078	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr18:54603078C>T	ENST00000254442.3	+	23	3984	c.3773C>T	c.(3772-3774)gCc>gTc	p.A1258V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1225V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1258								p.A1258V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCGAGGCATGCCCTCTCGCTC	0.537000													4	175					0	0	0.014758	0	0
TAPT1-AS1	0	broad.mit.edu	37	4	16257859	16257860	+	RNA	INS	-	-	T	rs146274448		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:16257859_16257860insT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1																						GAGGGTTTGTCTTTTTTTTTTT	0.381													3	4	---	---	---	---					
KTN1-AS1	0	broad.mit.edu	37	14	56014150	56014151	+	RNA	INS	-	-	A	rs72454346		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:56014150_56014151insA	ENST00000554558.1	-	0	364																											aacactgtctcaaaaaaaaaaa	0.460													2	4	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA	rs71838018		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.460													3	5	---	---	---	---