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
NPHP4	261734	broad.mit.edu	37	1	5940290	5940290	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:5940290C>T	ENST00000378156.4	-	19	2760	c.2495G>A	c.(2494-2496)tGt>tAt	p.C832Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	832					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGTTCACACGGGTGACC	0.507													5	23	---	---	---	---
CDC20	991	broad.mit.edu	37	1	43828701	43828701	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:43828701G>A	ENST00000372462.1	+	10	1604	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CDC20_ENST00000310955.6_Silent_p.L467L			Q12834	CDC20_HUMAN	cell division cycle 20	467					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGACCCTGAGGCTATGGC	0.607													22	58	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97700433	97700433	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:97700433A>G	ENST00000370192.3	-	19	2517	c.2417T>C	c.(2416-2418)cTc>cCc	p.L806P	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	806					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCACTATGGAGAAACTGAAG	0.433													6	15	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158606472	158606472	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:158606472G>A	ENST00000368147.4	-	37	5449	c.5269C>T	c.(5269-5271)Cgc>Tgc	p.R1757C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCTCTAGGCGTTTGTGCTTC	0.473													21	83	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186097410	186097410	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:186097410C>A	ENST00000271588.4	+	83	13120	c.12891C>A	c.(12889-12891)aaC>aaA	p.N4297K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4297	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTCAATAACAATATTATTC	0.368													9	37	---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178402827	178402827	+	Silent	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:178402827A>G	ENST00000264167.4	+	20	2027	c.1881A>G	c.(1879-1881)ctA>ctG	p.L627L	AGPS_ENST00000409888.1_Silent_p.L158L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	627					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGCAATGGCTAAAGGAAAGTA	0.393													20	79	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179629396	179629396	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:179629396G>A	ENST00000589042.1	-	42	10070	c.9846C>T	c.(9844-9846)ggC>ggT	p.G3282G	TTN_ENST00000360870.5_Silent_p.G3282G|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000591111.1_Silent_p.G3282G|TTN_ENST00000460472.2_Silent_p.G3236G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3011	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTTGAAGCCAGTGGAAA	0.502													27	124	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36130197	36130197	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:36130197G>A	ENST00000303965.4	-	21	4087	c.3598C>T	c.(3598-3600)Ctg>Ttg	p.L1200L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1200	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAGTAAGCAGTGCATCATCA	0.383													13	44	---	---	---	---
TTC29	83894	broad.mit.edu	37	4	147628687	147628687	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:147628687G>A	ENST00000513335.1	-	13	1624	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	TTC29_ENST00000398886.4_Silent_p.S475S|TTC29_ENST00000325106.4_Silent_p.S449S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	449							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTCCACTGTGGATCCTCTAA	0.328													3	30	---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55248076	55248076	+	Splice_Site	SNP	A	A	C			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:55248076A>C	ENST00000381298.2	-	12	1865		c.e12+1		IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Splice_Site	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)						interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTGGACTTACGAGCTTGTT	0.338			O		hepatocellular ca								14	43	---	---	---	---
BPHL	670	broad.mit.edu	37	6	3127486	3127486	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:3127486G>T	ENST00000380368.2	+	4	815	c.171G>T	c.(169-171)gaG>gaT	p.E57D	BPHL_ENST00000434640.1_Missense_Mutation_p.E57D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000380379.5_Missense_Mutation_p.E74D			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	74					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GAAGTGGAGAGACTGATTTTG	0.473													10	39	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12120756	12120756	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:12120756C>T	ENST00000379388.2	+	4	1060	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	243					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAATGGATGCCCCAAATCAG	0.433													5	167	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98515241	98515241	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:98515241A>G	ENST00000359863.4	+	20	2770	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G|TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	854					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTGTGTGGACAACCTGCAG	0.572													10	40	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677794	100677794	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:100677794C>T	ENST00000306151.4	+	3	3161	c.3097C>T	c.(3097-3099)Cca>Tca	p.P1033S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1033	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507													5	508	---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107431510	107431510	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:107431510G>A	ENST00000340010.5	-	5	737	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493													6	28	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55591154	55591154	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:55591154C>G	ENST00000373965.2	-	31	4538	c.4144G>C	c.(4144-4146)Ggg>Cgg	p.G1382R	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1375					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAAGGCCCCTTCTGTGTAT	0.493										HNSCC(58;0.16)			5	82	---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98078274	98078274	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:98078274C>A	ENST00000419175.1	+	2	539	c.369C>A	c.(367-369)caC>caA	p.H123Q	DNTT_ENST00000371174.2_Missense_Mutation_p.H123Q	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	123	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGGAAAACACCAGCTTGTTG	0.458													10	55	---	---	---	---
CHID1	66005	broad.mit.edu	37	11	884111	884111	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:884111C>A	ENST00000449825.1	-	9	1116	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000526714.1_Intron	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	254					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CTGAAACCATCCAGCACGGGG	0.597													12	50	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541365	55541365	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:55541365A>T	ENST00000361760.1	+	1	452	c.452A>T	c.(451-453)tAt>tTt	p.Y151F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTGGGTCCTATACATGGGGG	0.423													33	140	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2161025	2161025	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr16:2161025G>A	ENST00000262304.4	-	15	4351	c.4143C>T	c.(4141-4143)ggC>ggT	p.G1381G	PKD1_ENST00000423118.1_Silent_p.G1381G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1381	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGTGACGTTGCCCACCTCTG	0.667													9	49	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10302114	10302114	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:10302114G>C	ENST00000403437.2	-	29	4046	c.3952C>G	c.(3952-3954)Ctg>Gtg	p.L1318V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1318					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGATGTTTCAGCTCTTCAATC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	56	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11522871	11522871	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:11522871A>G	ENST00000262442.4	+	6	1191	c.1123A>G	c.(1123-1125)Aat>Gat	p.N375D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCCTCTAATTATCTCAG	0.433													18	81	---	---	---	---
ATPAF2	91647	broad.mit.edu	37	17	17921927	17921927	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:17921927C>T	ENST00000474627.3	-	8	960	c.806G>A	c.(805-807)gGc>gAc	p.G269D	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	269					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GAAGAGGGTGCCGGCGGCGGT	0.602													19	77	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3002434	3002434	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:3002434A>G	ENST00000381127.1	+	6	778	c.557A>G	c.(556-558)gAg>gGg	p.E186G	ARSF_ENST00000359361.2_Missense_Mutation_p.E186G|ARSF_ENST00000537104.1_Missense_Mutation_p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTAGCCTTTGAGAGTCAGCTC	0.532													5	34	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76855227	76855227	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:76855227C>A	ENST00000373344.5	-	24	5974	c.5760G>T	c.(5758-5760)atG>atT	p.M1920I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1920					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGCTTAAACTCATGGAGGTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	15	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104747889	104747890	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:104747889_104747890delAA	ENST00000334877.4	+	22	3519_3520	c.2985_2986delAA	c.(2983-2988)ataaagfs	p.K996fs	KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs					lysine (K)-specific methyltransferase 2E																		TGCAAGAAATAAAGACTATTGG	0.406													14	58	---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	288038	288041	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:288038_288041delCAAT	ENST00000397962.3	+	10	1337_1340	c.909_912delCAAT	c.(907-912)gacaatfs	p.DN303fs	ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	263					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAAGAAGACAATCAAGTCGACG	0.426													15	73	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47699392	47699392	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:47699392delT	ENST00000393331.3	-	5	586	c.116delA	c.(115-117)aatfs	p.N40fs	SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393328.2_Frame_Shift_Del_p.N40fs	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	40	MATH.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCTAAAGTTATTGATGGTCCA	0.368										Prostate(2;0.17)			22	61	---	---	---	---
