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
MORC1	27136	broad.mit.edu	37	3	108818264	108818264	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:108818264C>T	ENST00000232603.5	-	6	446	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	MORC1_ENST00000483760.1_Missense_Mutation_p.E122K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	122					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTCATCGTTTCTTCCTTCTTC	0.343000													22	34					0	0	0.693898	0	0
SMC4	10051	broad.mit.edu	37	3	160150974	160150974	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:160150974T>G	ENST00000357388.3	+	23	4142	c.3691T>G	c.(3691-3693)Tcc>Gcc	p.S1231A	SMC4_ENST00000462787.1_Missense_Mutation_p.S1173A|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231A|TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206A|SMC4_ENST00000360111.2_Missense_Mutation_p.S1173A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAAAATGTGTCCATTGTTGC	0.338000													5	119					0	0	0.184627	0	0
GGA3	23163	broad.mit.edu	37	17	73237565	73237565	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:73237565G>A	ENST00000245541.6	-	10	1078	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000582486.1_Missense_Mutation_p.R216W|GGA3_ENST00000351904.7_Missense_Mutation_p.R255W|GGA3_ENST00000538886.1_Missense_Mutation_p.R166W|GGA3_ENST00000578348.1_Missense_Mutation_p.R166W|GGA3_ENST00000582717.1_Missense_Mutation_p.R216W	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	288	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTGATGACCCGGGAGAGGTTG	0.522000													60	315					0	0	0.870114	0	0
ZNF333	84449	broad.mit.edu	37	19	14830020	14830020	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:14830020C>T	ENST00000292530.6	+	12	1972	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	ZNF333_ENST00000536363.1_Silent_p.F518F|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AGAAAGCCTTCAGGCACAGCT	0.483000													85	86					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:7578211C>T	ENST00000420246.2	-	6	770	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	1					0	0	0.639603	0	0
SMAD1	4086	broad.mit.edu	37	4	146435868	146435868	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:146435868G>A	ENST00000515385.1	+	2	645	c.103G>A	c.(103-105)Gat>Aat	p.D35N	SMAD1_ENST00000394092.2_Missense_Mutation_p.D35N|SMAD1_ENST00000515527.1_3'UTR|SMAD1_ENST00000302085.4_Missense_Mutation_p.D35N|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	35	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAAAGCTGTTGATGCTTTGGT	0.453000													37	13					0	0	0.796494	0	0
POLR2I	5438	broad.mit.edu	37	19	36605737	36605737	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:36605737C>G	ENST00000221859.4	-	1	511	c.22G>C	c.(22-24)Gag>Cag	p.E8Q		NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	8					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGCCCGGCTCGTAAGTCCCG	0.687000													80	174					0	0	0.870114	0	0
MMEL1	79258	broad.mit.edu	37	1	2523049	2523049	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:2523049G>A	ENST00000288709.6	-	23	2400	c.2160C>T	c.(2158-2160)ccC>ccT	p.P720P	MMEL1_ENST00000502556.1_Silent_p.P572P|MMEL1_ENST00000378412.3_Silent_p.P729P	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	729					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TGGCGAACTCGGGCCGGTAGG	0.637000													22	113					0	0	0.667858	0	0
CWF19L1	55280	broad.mit.edu	37	10	102003498	102003498	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr10:102003498C>A	ENST00000354105.4	-	10	1087	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.S89I	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	334							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CACTTCAGGGCTAGCAAGGCA	0.438000													67	142					3.61678e-42	3.93591e-42	0.870114	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39907574	39907574	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:39907574G>A	ENST00000425673.1	+	7	1003	c.678G>A	c.(676-678)tcG>tcA	p.S226S	PLEKHG2_ENST00000458508.2_Silent_p.S167S|PLEKHG2_ENST00000378550.1_Silent_p.S226S|PLEKHG2_ENST00000409797.2_Silent_p.S226S|PLEKHG2_ENST00000409794.3_Silent_p.S226S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	226	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCACTCGCTGCCCCTGC	0.677000													33	288					0	0	0.788014	0	0
PIK3R2	5296	broad.mit.edu	37	19	18271739	18271739	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:18271739C>T	ENST00000593731.1	+	4	986	c.426C>T	c.(424-426)agC>agT	p.S142S	PIK3R2_ENST00000222254.8_Silent_p.S142S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	142	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GGCTGGACAGCGAATCTCACT	0.662000													9	21					0	0	0.335167	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455652	50455652	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:50455652C>T	ENST00000447370.2	-	9	1742		c.e9-1		CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Splice_Site	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11						cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCAGCTTCCCTGCATGGGAG	0.637000													32	2					0	0	0.740014	0	0
DONSON	29980	broad.mit.edu	37	21	34951851	34951851	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr21:34951851C>T	ENST00000303071.5	-	9	1434	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	DONSON_ENST00000303113.6_Silent_p.V442V|DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	456					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CTTGTGTCTTCACATTCACAC	0.378000													32	42					0	0	0.750413	0	0
CREB3L3	84699	broad.mit.edu	37	19	4170197	4170197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:4170197G>A	ENST00000602147.1	+	6	855	c.775G>A	c.(775-777)Gca>Aca	p.A259T	CREB3L3_ENST00000602257.1_Silent_p.K292K|CREB3L3_ENST00000595923.1_Silent_p.K293K|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.K294K			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	381					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCGAGAAGCAAAACCTGT	0.537000													43	50					0	0	0.847076	0	0
HECTD1	25831	broad.mit.edu	37	14	31574810	31574810	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:31574810T>A	ENST00000399332.1	-	39	7779	c.7291A>T	c.(7291-7293)Agt>Tgt	p.S2431C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2431C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2431	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTTCACCACTTGGCTTGAGA	0.368000													54	42					0	0	0.870114	0	0
BEST4	266675	broad.mit.edu	37	1	45253242	45253242	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:45253242G>C	ENST00000372207.3	-	1	135	c.136C>G	c.(136-138)Ctt>Gtt	p.L46V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	46						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GTGATGCTAAGCACAGCGTAC	0.592000													56	224					0	0	0.870114	0	0
CPA6	57094	broad.mit.edu	37	8	68396996	68396996	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:68396996G>A	ENST00000297770.4	-	7	880	c.665C>T	c.(664-666)gCc>gTc	p.A222V	CPA6_ENST00000297769.4_Missense_Mutation_p.A74V|CPA6_ENST00000518549.1_Missense_Mutation_p.A222V	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	222					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTTTCTCATGGCTGGGTCACT	0.358000													13	32					0	0	0.411799	0	0
SORBS3	10174	broad.mit.edu	37	8	22412427	22412427	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:22412427G>A	ENST00000240123.7	+	3	537	c.154G>A	c.(154-156)Gac>Aac	p.D52N	SORBS3_ENST00000523402.1_Missense_Mutation_p.D52N	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	52					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCAGTTCCACGACCCCGCGCC	0.652000													39	106					0	0	0.827153	0	0
ARMC2	84071	broad.mit.edu	37	6	109179469	109179469	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:109179469G>C	ENST00000392644.4	+	3	454	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	ARMC2_ENST00000368972.3_Intron	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	96							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAGTCCACTAGAGCTGGTGAG	0.388000													21	16					0	0	0.575678	0	0
MUC5B	727897	broad.mit.edu	37	11	1281933	1281933	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:1281933G>A	ENST00000447027.1	+	48	17111	c.17053G>A	c.(17053-17055)Gag>Aag	p.E5685K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E5682K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5682	CTCK.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCTTCTGCGAGGGCTCCTG	0.647000													6	24					0	0	0.278610	0	0
NEB	4703	broad.mit.edu	37	2	152528918	152528918	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:152528918C>G	ENST00000397345.3	-	37	4466	c.4264G>C	c.(4264-4266)Gag>Cag	p.E1422Q	NEB_ENST00000604864.1_Missense_Mutation_p.E1422Q|NEB_ENST00000427231.2_Missense_Mutation_p.E1422Q|NEB_ENST00000603639.1_Missense_Mutation_p.E1422Q|NEB_ENST00000409198.1_Missense_Mutation_p.E1422Q|NEB_ENST00000172853.10_Missense_Mutation_p.E1422Q	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1422					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCGTATGCTCAAGACTCATG	0.428000													25	23					0	0	0.693898	0	0
CNDP1	84735	broad.mit.edu	37	18	72234525	72234525	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr18:72234525G>A	ENST00000582365.1	+	5	550	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000358821.3_Missense_Mutation_p.A205T			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	205					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGCTCTGTTGCCCTGGAGGA	0.433000													31	24					0	0	0.750413	0	0
MZF1	7593	broad.mit.edu	37	19	59073928	59073928	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:59073928G>A	ENST00000215057.2	-	6	2276	c.1716C>T	c.(1714-1716)gcC>gcT	p.A572A	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Silent_p.A572A	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	572					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGCCACACTCGGCGCAGGCGA	0.706000													3	7					0	0	0.115264	0	0
SYNE1	23345	broad.mit.edu	37	6	152523045	152523045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:152523045C>A	ENST00000367255.5	-	127	23660	c.23059G>T	c.(23059-23061)Gag>Tag	p.E7687*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E7616*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E2211*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E7616*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E7299*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E7687*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7687					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTAGTTTCTCCAGGGAATCT	0.418000										HNSCC(10;0.0054)			9	63					7.48243e-07	7.65988e-07	0.335167	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402607	136402607	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:136402607G>A	ENST00000393061.3	+	3	930	c.498G>A	c.(496-498)acG>acA	p.T166T	ADAMTSL2_ENST00000393060.1_Silent_p.T57T|ADAMTSL2_ENST00000354484.4_Silent_p.T57T			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	57					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCAAGTGGACGGCGTGTTCCC	0.677000													29	99					0	0	0.693898	0	0
PRKCE	5581	broad.mit.edu	37	2	46207514	46207514	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:46207514C>T	ENST00000306156.3	+	5	1014	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	229					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.P229P(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGGAGACCCCCGACCAGGTAA	0.542000													6	25					0	0	0.248553	0	0
MYH8	4626	broad.mit.edu	37	17	10302861	10302861	+	Splice_Site	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:10302861C>A	ENST00000403437.2	-	28	3955	c.3861G>T	c.(3859-3861)gcG>gcT	p.A1287A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1287					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						TGTCTTTACCCGCTTCTGTCT	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				34	53					1.59932e-28	1.72594e-28	0.834066	1	0
TNK2	10188	broad.mit.edu	37	3	195599249	195599249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:195599249G>A	ENST00000333602.6	-	10	1966	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	TNK2_ENST00000392400.1_Missense_Mutation_p.S450L|TNK2_ENST00000316664.3_Missense_Mutation_p.S450L|TNK2_ENST00000428187.1_Missense_Mutation_p.S482L|TNK2_ENST00000381916.2_Missense_Mutation_p.S513L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	450				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S450L(1)|p.S513L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCCTGGGCCGACAGGCCGGC	0.667000													23	108					0	0	0.654019	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227335170	227335170	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:227335170C>T	ENST00000366769.3	-	7	2075	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E262K|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E262K|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E262K|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E262K|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E262K|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E262K	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	262	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CAGTCACATTCAGGTCCATAT	0.433000													53	51					0	0	0.870114	0	0
CSE1L	1434	broad.mit.edu	37	20	47704607	47704607	+	Missense_Mutation	SNP	C	C	G	rs34221013		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr20:47704607C>G	ENST00000262982.2	+	17	1908	c.1785C>G	c.(1783-1785)atC>atG	p.I595M	CSE1L_ENST00000396192.3_Missense_Mutation_p.I539M|CSE1L_ENST00000542325.1_Missense_Mutation_p.I378M	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	595					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTACTCTCATCACTCAGCTTA	0.378000													4	65					0	0	0.150653	0	0
DEF8	54849	broad.mit.edu	37	16	90015978	90015978	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:90015978C>T	ENST00000268676.7	+	2	194	c.105C>T	c.(103-105)ctC>ctT	p.L35L	DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	35					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CTCAGGTTCTCGGGGTGGCAG	0.682000													50	47					0	0	0.870114	0	0
IFT140	9742	broad.mit.edu	37	16	1642312	1642312	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:1642312C>T	ENST00000426508.2	-	6	862	c.499G>A	c.(499-501)Gtt>Att	p.V167I	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	167										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCCAACTGAACCAGGTCCCTG	0.552000													4	96					0	0	0.150653	0	0
GPC6	10082	broad.mit.edu	37	13	94482415	94482415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr13:94482415C>T	ENST00000377047.4	+	3	943	c.328C>T	c.(328-330)Cga>Tga	p.R110*	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	110						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGAATTTTTCCGAGAGCTCCT	0.388000													7	73					0	0	0.278610	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104256	17104256	+	Silent	SNP	G	G	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:17104256G>T	ENST00000443236.1	-	12	1408	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	CPAMD8_ENST00000388925.4_Silent_p.I412I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	412						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGACGTGGGGATGGAGGGGA	0.577000													18	17					3.52763e-06	3.59707e-06	0.520397	1	0
LRRC48	83450	broad.mit.edu	37	17	17896125	17896125	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:17896125C>G	ENST00000313838.8	+	7	870	c.491C>G	c.(490-492)tCt>tGt	p.S164C	LRRC48_ENST00000411504.2_Missense_Mutation_p.S164C|LRRC48_ENST00000584166.1_Missense_Mutation_p.S164C|LRRC48_ENST00000399182.1_Missense_Mutation_p.S164C|LRRC48_ENST00000399187.1_Missense_Mutation_p.S164C	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	164						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTCAGCCTCTCTAGGAACCCT	0.522000													10	3					0	0	0.335167	0	0
ZNF99	7652	broad.mit.edu	37	19	22939023	22939023	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:22939023G>T	ENST00000397104.3	-	8	3097	c.3098C>A	c.(3097-3099)aCt>aAt	p.T1033N						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCTCCCCAGTATGAATTAT	0.348000													23	74					4.26978e-12	4.49542e-12	0.654019	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	30					0	0	0.115264	0	0
CASQ2	845	broad.mit.edu	37	1	116260512	116260512	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:116260512C>T	ENST00000261448.5	-	8	1026	c.787G>A	c.(787-789)Gat>Aat	p.D263N	CASQ2_ENST00000456138.2_Missense_Mutation_p.D192N	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	263					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCAAATCATCTTCCTGTATG	0.458000													58	52					0	0	0.870114	0	0
ABL1	25	broad.mit.edu	37	9	133738336	133738336	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:133738336C>T	ENST00000318560.5	+	4	1117	c.736C>T	c.(736-738)Cac>Tac	p.H246Y		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	246	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CACCATGAAGCACAAGCTGGG	0.587000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								49	44					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149477948	149477948	+	RNA	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr7:149477948C>T	ENST00000378016.2	+	0	1719							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCACTACCTCACCTTCGATG	0.672000													20	32					0	0	0.592651	0	0
GPX3	2878	broad.mit.edu	37	5	150406496	150406496	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:150406496G>A	ENST00000388825.4	+	3	369	c.277G>A	c.(277-279)Ggt>Agt	p.G93S	GPX3_ENST00000517973.1_Silent_p.S41S	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	93					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TGCACCATTCGGTCTGGTCAT	0.512000													28	87					0	0	0.729181	0	0
ARMC2	84071	broad.mit.edu	37	6	109179430	109179430	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:109179430G>A	ENST00000392644.4	+	3	415	c.247G>A	c.(247-249)Gat>Aat	p.D83N	ARMC2_ENST00000368972.3_Intron	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	83							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGAGTCATCTGATTCCAGGCC	0.358000													20	21					0	0	0.681144	0	0
COL4A6	1288	broad.mit.edu	37	X	107434729	107434729	+	Silent	SNP	T	T	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:107434729T>A	ENST00000394872.2	-	19	1449	c.1218A>T	c.(1216-1218)ccA>ccT	p.P406P	COL4A6_ENST00000334504.7_Silent_p.P405P|COL4A6_ENST00000372216.4_Silent_p.P406P|COL4A6_ENST00000545689.1_Silent_p.P405P|COL4A6_ENST00000538570.1_Silent_p.P405P			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	406	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTCAGCCCTGGAAATCCCT	0.567000									Alport syndrome with Diffuse Leiomyomatosis				4	103					0	0	0.184627	0	0
ENPP7	339221	broad.mit.edu	37	17	77709073	77709073	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:77709073G>A	ENST00000328313.5	+	3	852	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	211					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGAGTCCCCGGAGAGGAGGGA	0.652000													20	29					0	0	0.608945	0	0
MAGI1	9223	broad.mit.edu	37	3	66023833	66023833	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:66023833C>T	ENST00000330909.8	-	1	150	c.151G>A	c.(151-153)Gag>Aag	p.E51K	MAGI1_ENST00000497477.2_Missense_Mutation_p.E51K|MAGI1_ENST00000402939.2_Missense_Mutation_p.E51K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E51K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	51	PDZ 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCCGCTGCCTCGACCGCCGCC	0.746000													28	62					0	0	0.729181	0	0
HNMT	3176	broad.mit.edu	37	2	138724673	138724673	+	Silent	SNP	G	G	A	rs145915370		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:138724673G>A	ENST00000280096.5	+	2	163	c.144G>A	c.(142-144)caG>caA	p.Q48Q	HNMT_ENST00000280097.3_Intron|HNMT_ENST00000410115.1_Intron|HNMT_ENST00000485653.1_Intron|HNMT_ENST00000329366.4_Intron	NM_001024074.2	NP_001019245.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	0					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ttagataccagaattgctgtt	0.398000													28	4					0	0	0.729181	0	0
MMEL1	79258	broad.mit.edu	37	1	2537032	2537032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:2537032G>A	ENST00000288709.6	-	9	994	c.754C>T	c.(754-756)Cga>Tga	p.R252*	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R261*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	261					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGTACTCTCGGGAGGGCATG	0.657000													13	65					0	0	0.479597	0	0
MST1R	4486	broad.mit.edu	37	3	49933525	49933525	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:49933525C>T	ENST00000296474.3	-	11	2692	c.2665G>A	c.(2665-2667)Gct>Act	p.A889T	MST1R_ENST00000344206.4_Intron	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	889					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCAGCCACAGCGCCCAGCCCA	0.607000													40	154					0	0	0.819951	0	0
MAST3	23031	broad.mit.edu	37	19	18254700	18254700	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:18254700G>C	ENST00000262811.6	+	21	2380	c.2380G>C	c.(2380-2382)Gag>Cag	p.E794Q		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTTCTCATCAGAGGATGAGGG	0.627000													21	29					0	0	0.592651	0	0
C1orf127	148345	broad.mit.edu	37	1	11008624	11008624	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:11008624G>A	ENST00000377004.4	-	12	1567	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	C1orf127_ENST00000377008.4_Missense_Mutation_p.P356L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	374										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCAGGCCTCGGGGCTGGCGG	0.622000													15	55					0	0	0.479597	0	0
ENPP7	339221	broad.mit.edu	37	17	77709075	77709075	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:77709075G>A	ENST00000328313.5	+	3	854	c.633G>A	c.(631-633)gaG>gaA	p.E211E		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	211					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGTCCCCGGAGAGGAGGGAGA	0.647000													22	28					0	0	0.639603	0	0
SLC4A2	6522	broad.mit.edu	37	7	150772847	150772847	+	Silent	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr7:150772847C>G	ENST00000485713.1	+	21	4496	c.3456C>G	c.(3454-3456)gtC>gtG	p.V1152V	SLC4A2_ENST00000392826.2_Silent_p.V1143V|SLC4A2_ENST00000310317.5_Silent_p.V1070V|SLC4A2_ENST00000413384.2_Silent_p.V1152V|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Silent_p.V1138V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1152	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCCAGATGTCACTTACGTCA	0.582000													40	35					0	0	0.847076	0	0
CMTM2	146225	broad.mit.edu	37	16	66621969	66621969	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:66621969G>A	ENST00000268595.2	+	4	845	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	CMTM2_ENST00000379486.2_Missense_Mutation_p.A179T	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	232					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ACCAGAACCCGCCAAGCCACC	0.532000													35	95					0	0	0.804634	0	0
DLAT	1737	broad.mit.edu	37	11	111896365	111896365	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:111896365G>A	ENST00000280346.6	+	1	828	c.169G>A	c.(169-171)Gca>Aca	p.A57T	DLAT_ENST00000537636.1_5'UTR|DLAT_ENST00000393051.1_Missense_Mutation_p.A57T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	57					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CGGGGTCCGGGCACTGTGCGG	0.682000													3	18					0	0	0.115264	0	0
ABCD1	215	broad.mit.edu	37	X	152991100	152991100	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:152991100C>T	ENST00000218104.3	+	1	778	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S		NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	127	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAAGGACCCGCGGGCTTT	0.672000													21	0					0	0	0.592651	0	0
USP34	9736	broad.mit.edu	37	2	61622326	61622326	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:61622326C>A	ENST00000398571.2	-	4	671	c.595G>T	c.(595-597)Gat>Tat	p.D199Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	199					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D199N(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATTCATATCACAGAATGCC	0.229000													6	27					0.00116845	0.00118214	0.217242	1	0
PLXND1	23129	broad.mit.edu	37	3	129275467	129275467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:129275467C>T	ENST00000324093.4	-	35	5832	c.5654G>A	c.(5653-5655)cGg>cAg	p.R1885Q	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.R41Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1885					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CACCTGCGGCCGATACCTCTT	0.552000													12	26					0	0	0.435327	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202154564	202154564	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:202154564C>T	ENST00000405148.2	-	13	1399	c.956G>A	c.(955-957)aGa>aAa	p.R319K	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R319K|ALS2CR12_ENST00000392257.3_Intron|ALS2CR12_ENST00000439709.1_Intron	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	319					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TATTTGGTCTCTTCTCCAGGG	0.488000													43	0					0	0	0.847076	0	0
CUL5	8065	broad.mit.edu	37	11	107974953	107974953	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:107974953A>G	ENST00000393094.2	+	19	2801	c.2185A>G	c.(2185-2187)Att>Gtt	p.I729V		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	729					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAGAAAGAAAATTAGTAATGC	0.269000													7	39					0	0	0.307466	0	0
ABCF3	55324	broad.mit.edu	37	3	183906015	183906015	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:183906015T>C	ENST00000429586.2	+	7	841	c.656T>C	c.(655-657)tTa>tCa	p.L219S	ABCF3_ENST00000292808.5_Missense_Mutation_p.L213S|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	219	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGACAACGTTACTGAAGATG	0.617000													32	140					0	0	0.750413	0	0
RANBP17	64901	broad.mit.edu	37	5	170722900	170722900	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:170722900G>A	ENST00000523189.1	+	27	3216	c.3052G>A	c.(3052-3054)Gaa>Aaa	p.E1018K	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1018					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTATTTCAGTGAACTGAGAGC	0.527000			T	TRD@	ALL								62	33					0	0	0.870114	0	0
ARSE	415	broad.mit.edu	37	X	2871265	2871265	+	Missense_Mutation	SNP	C	C	T	rs122460152		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:2871265C>T	ENST00000545496.1	-	6	715	c.424G>A	c.(424-426)Gga>Aga	p.G142R	ARSE_ENST00000381134.3_Missense_Mutation_p.G117R|ARSE_ENST00000540563.1_Missense_Mutation_p.G72R	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	117					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				CCAGATGCTCCGGTCCACTGA	0.383000													25	18					0	0	0.693898	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	152					0	0	0.150653	0	0
SULT4A1	25830	broad.mit.edu	37	22	44237733	44237733	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr22:44237733G>A	ENST00000330884.4	-	2	369	c.249C>T	c.(247-249)gaC>gaT	p.D83D	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.D83D	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	83					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GGAGCTGCTCGTCGATGTTCA	0.617000													32	56					0	0	0.729181	0	0
CPS1	1373	broad.mit.edu	37	2	211454843	211454843	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:211454843T>C	ENST00000233072.5	+	8	921	c.725T>C	c.(724-726)gTg>gCg	p.V242A	CPS1_ENST00000430249.2_Missense_Mutation_p.V248A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	242	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAGCTGAAGTGCACTTAGTT	0.423000													77	79					0	0	0.870114	0	0
GLRA2	2742	broad.mit.edu	37	X	14625373	14625373	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:14625373C>A	ENST00000218075.4	+	6	1228	c.698C>A	c.(697-699)aCa>aAa	p.T233K	GLRA2_ENST00000355020.4_Missense_Mutation_p.T233K|GLRA2_ENST00000443437.2_Missense_Mutation_p.T144K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	233					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GGCTACTGTACAAAGCACTAC	0.388000													23	27					7.87624e-14	8.32632e-14	0.639603	1	0
CEP170	9859	broad.mit.edu	37	1	243388525	243388525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:243388525G>A	ENST00000366542.1	-	2	109	c.58C>T	c.(58-60)Cga>Tga	p.R20*	AC092782.1_ENST00000596590.1_Intron|CEP170_ENST00000366543.1_Nonsense_Mutation_p.R20*|CEP170_ENST00000366544.1_Nonsense_Mutation_p.R20*	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	20						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCATTTCTCGTGGCAGCCTG	0.418000													9	19					0	0	0.361761	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													3	32					0	0	0.150653	0	0
C1orf159	54991	broad.mit.edu	37	1	1019573	1019573	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:1019573C>T	ENST00000448924.1	-	10	1201	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	C1orf159_ENST00000379320.1_Missense_Mutation_p.R221Q|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.R257Q|C1orf159_ENST00000294576.5_Missense_Mutation_p.R221Q|C1orf159_ENST00000379319.1_Intron			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	257	Pro-rich.					integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGCCAAATCCGGCCCTGGCC	0.657000													18	67					0	0	0.557998	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98388228	98388228	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr10:98388228A>T	ENST00000339364.5	-	9	1517	c.1398T>A	c.(1396-1398)agT>agA	p.S466R	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S288R|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.S65R	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	466						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGTTAGATGTACTGGCCTGAA	0.443000													30	79					0	0	0.717897	0	0
ILK	3611	broad.mit.edu	37	11	6629326	6629326	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:6629326C>G	ENST00000396751.2	+	2	596	c.140C>G	c.(139-141)tCt>tGt	p.S47C	ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Missense_Mutation_p.S47C|ILK_ENST00000299421.4_Missense_Mutation_p.S47C|ILK_ENST00000528995.1_Missense_Mutation_p.S47C	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	47	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GAGGGCCGCTCTGCTGTGGTT	0.597000													29	38					0	0	0.706142	0	0
EYA4	2070	broad.mit.edu	37	6	133769288	133769288	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:133769288T>C	ENST00000367895.5	+	5	712	c.248T>C	c.(247-249)cTg>cCg	p.L83P	EYA4_ENST00000452339.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.L83P|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.L83P|EYA4_ENST00000431403.2_Missense_Mutation_p.L83P|EYA4_ENST00000430974.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	83					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GACTGGTTGCTGAGTTGCAAC	0.453000													30	44					0	0	0.760397	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255528	140255528	+	Silent	SNP	T	T	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:140255528T>C	ENST00000398631.2	+	1	471	c.471T>C	c.(469-471)gcT>gcC	p.A157A	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGCGCTTCTGATGCGG	0.403000													3	103					0	0	0.115264	0	0
DNAH1	25981	broad.mit.edu	37	3	52429588	52429588	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:52429588G>A	ENST00000420323.2	+	70	11414	c.11153G>A	c.(11152-11154)cGc>cAc	p.R3718H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3783	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCATGATGCGCAGCTCCATA	0.642000													33	57					0	0	0.804634	0	0
LPHN3	23284	broad.mit.edu	37	4	62598942	62598942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:62598942C>T	ENST00000512091.2	+	7	1612	c.865C>T	c.(865-867)Caa>Taa	p.Q289*	LPHN3_ENST00000508946.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.Q357*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.Q357*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.Q357*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.Q357*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.Q357*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.Q357*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.Q289*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.Q357*			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			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						TGTCATTAGTCAATTGAACCC	0.413000													27	9					0	0	0.667858	0	0
KLK4	9622	broad.mit.edu	37	19	51412524	51412524	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:51412524C>T	ENST00000324041.1	-	2	207	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KLK4_ENST00000431178.2_Missense_Mutation_p.A21T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	70	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AAACAGTGTGCGGCTGACAGC	0.647000													4	120					0	0	0.150653	0	0
SEPN1	57190	broad.mit.edu	37	1	26137979	26137979	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:26137979G>T	ENST00000361547.2	+	8	1100	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	SEPN1_ENST00000374315.1_Missense_Mutation_p.A315S|SEPN1_ENST00000354177.4_Missense_Mutation_p.A315S	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	349						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTACGGGGCCAGTGAAAG	0.587000											OREG0013258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	240					9.10829e-22	9.74813e-22	0.870114	1	0
FCGBP	8857	broad.mit.edu	37	19	40382696	40382696	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:40382696C>T	ENST00000221347.6	-	22	10197	c.10190G>A	c.(10189-10191)cGc>cAc	p.R3397H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3397	VWFD 8.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGCGCAGGCGCACGAAGCT	0.682000													27	1043					0	0	0.575678	0	0
RANBP2	5903	broad.mit.edu	37	2	109380185	109380185	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:109380185G>A	ENST00000283195.6	+	20	3316	c.3190G>A	c.(3190-3192)Gaa>Aaa	p.E1064K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1064					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGTAACAGTGAAAGCCTTTT	0.438000													24	57					0	0	0.639603	0	0
CDH18	1016	broad.mit.edu	37	5	19473678	19473678	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:19473678C>T	ENST00000507958.1	-	15	3020	c.2030G>A	c.(2029-2031)aGg>aAg	p.R677K	CDH18_ENST00000274170.4_Missense_Mutation_p.R677K|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.R677K			Q13634	CAD18_HUMAN	cadherin 18, type 2	677					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAAGGATTCCTCAAGGCTGT	0.507000													52	200					0	0	0.870114	0	0
HPGD	3248	broad.mit.edu	37	4	175429877	175429877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:175429877C>T	ENST00000296522.6	-	4	837	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	HPGD_ENST00000422112.2_Intron|HPGD_ENST00000542498.1_Missense_Mutation_p.G131S|HPGD_ENST00000296521.7_Missense_Mutation_p.G131S|HPGD_ENST00000510901.1_Missense_Mutation_p.G10S|HPGD_ENST00000504433.1_Missense_Mutation_p.G131S|HPGD_ENST00000541923.1_Missense_Mutation_p.G10S	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	131					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	ATAATGATGCCGCCTTCACCT	0.353000													28	70					0	0	0.760397	0	0
RNF40	9810	broad.mit.edu	37	16	30785258	30785258	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:30785258G>A	ENST00000324685.6	+	20	3264		c.e20-1		RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Splice_Site|RNF40_ENST00000563683.1_Splice_Site|RNF40_ENST00000402121.3_Splice_Site	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase						histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCTGGCCCAGGCGCGGTTGA	0.607000													30	182					0	0	0.750413	0	0
GABRR1	2569	broad.mit.edu	37	6	89895077	89895077	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:89895077T>G	ENST00000435811.1	-	6	1151	c.697A>C	c.(697-699)Att>Ctt	p.I233L	GABRR1_ENST00000454853.2_Missense_Mutation_p.I250L|GABRR1_ENST00000369451.3_Missense_Mutation_p.I163L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	250					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AATTCCTGAATGAGGAACTGG	0.488000													70	88					0	0	0.870114	0	0
HSF4	3299	broad.mit.edu	37	16	67199490	67199490	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:67199490C>G	ENST00000264009.8	+	4	1154	c.189C>G	c.(187-189)ttC>ttG	p.F63L	HSF4_ENST00000521374.1_Missense_Mutation_p.F63L|RP11-5A19.5_ENST00000518227.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.F63L|HSF4_ENST00000421453.1_Missense_Mutation_p.F63L	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	63					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCAGTATTTCAAGCATAGCA	0.652000													49	73					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170042308	170042308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:170042308G>A	ENST00000263816.3	-	50	9835	c.9550C>T	c.(9550-9552)Cga>Tga	p.R3184*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3184	EGF-like 12; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTGGTTCTCGGAGGTAGCCT	0.423000													55	60					0	0	0.870114	0	0
GPSM1	26086	broad.mit.edu	37	9	139228940	139228940	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:139228940C>T	ENST00000440944.1	+	2	325	c.105C>T	c.(103-105)ggC>ggT	p.G35G	GPSM1_ENST00000392945.3_Silent_p.G35G	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	35	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CGCTGGAGGGCGAGCGTCTGT	0.652000													5	33					0	0	0.217242	0	0
AKAP5	9495	broad.mit.edu	37	14	64935662	64935662	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:64935662G>A	ENST00000394718.4	+	2	928	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.E184K	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5						energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GGATCTAAGTGAAGGCATCTC	0.418000													65	31					0	0	0.870114	0	0
PCMTD2	55251	broad.mit.edu	37	20	62899364	62899364	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr20:62899364G>A	ENST00000308824.6	+	5	833		c.e5+1		PCMTD2_ENST00000609372.1_Splice_Site|PCMTD2_ENST00000369758.4_Splice_Site|PCMTD2_ENST00000299468.7_Splice_Site	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GTCCAGTTACGTAAGTATACC	0.338000													10	23					0	0	0.411799	0	0
RNF144A	9781	broad.mit.edu	37	2	7160784	7160784	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:7160784C>G	ENST00000320892.6	+	6	924	c.482C>G	c.(481-483)cCg>cGg	p.P161R	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	161						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GAGACCATGCCGATCACCTTC	0.612000													38	83					0	0	0.804634	0	0
BOK	666	broad.mit.edu	37	2	242509574	242509574	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:242509574G>A	ENST00000318407.3	+	4	686	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	128					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		CCCTGTATGCGGTGGCCGCGG	0.657000													7	12					0	0	0.278610	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958356	153958356	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:153958356G>A	ENST00000356448.4	+	12	2572	c.2288G>A	c.(2287-2289)gGa>gAa	p.G763E	ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.G763E|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	763	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ATGCTACTAGGAGCTGAGACG	0.438000													8	10					0	0	0.335167	0	0
RNF17	56163	broad.mit.edu	37	13	25378490	25378490	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr13:25378490A>G	ENST00000255324.5	+	15	2066	c.2014A>G	c.(2014-2016)Att>Gtt	p.I672V	RNF17_ENST00000381921.1_Missense_Mutation_p.I672V|RNF17_ENST00000255325.6_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	672					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCCACCTATTTTGCCTAA	0.318000													4	32					0	0	0.184627	0	0
EPOR	2057	broad.mit.edu	37	19	11489177	11489177	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:11489177C>T	ENST00000222139.6	-	8	1114	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	337						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CCCCCAGCAGCGCTCTGAGAG	0.637000													18	59					0	0	0.539581	0	0
WWC1	23286	broad.mit.edu	37	5	167855090	167855090	+	Silent	SNP	C	C	T	rs142704404		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:167855090C>T	ENST00000265293.4	+	12	2365	c.1863C>T	c.(1861-1863)gcC>gcT	p.A621A	WWC1_ENST00000521089.1_Silent_p.A621A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	621					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTCAGCCGCCGTATCGGACG	0.582000													15	28					0	0	0.520397	0	0
UTRN	7402	broad.mit.edu	37	6	144872169	144872169	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:144872169G>C	ENST00000367545.3	+	47	6879	c.6879G>C	c.(6877-6879)ttG>ttC	p.L2293F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2293					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CACAGAATTTGAAAAATAAAG	0.328000													31	39					0	0	0.750413	0	0
PPP2CA	5515	broad.mit.edu	37	5	133537632	133537632	+	Silent	SNP	A	A	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:133537632A>G	ENST00000481195.1	-	3	673	c.393T>C	c.(391-393)gaT>gaC	p.D131D	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAAACATTCATCATAGAAAC	0.373000													14	36					0	0	0.457914	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445779	29445779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr22:29445779C>T	ENST00000544604.2	+	8	1785	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S437L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S437L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S437L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	537						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCCACCGCTCGGTGTGCAGT	0.672000													4	33					0	0	0.150653	0	0
PPIL6	285755	broad.mit.edu	37	6	109757370	109757370	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:109757370T>A	ENST00000521072.2	-	2	748	c.168A>T	c.(166-168)gaA>gaT	p.E56D	PPIL6_ENST00000440797.2_Missense_Mutation_p.E56D|PPIL6_ENST00000424445.2_Intron	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	56					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ATATAGGATCTTCAAATTTGG	0.328000													4	152					0	0	0.217242	0	0
COL6A6	131873	broad.mit.edu	37	3	130282250	130282250	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:130282250C>A	ENST00000358511.6	+	2	434	c.403C>A	c.(403-405)Cta>Ata	p.L135I	COL6A6_ENST00000453409.2_Missense_Mutation_p.L135I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	135	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCCCAATTCTAGTGGTCCT	0.512000													21	29					4.35082e-09	4.5438e-09	0.592651	1	0
RBL2	5934	broad.mit.edu	37	16	53495737	53495737	+	Silent	SNP	C	C	T	rs138458893		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:53495737C>T	ENST00000262133.6	+	10	1568	c.1431C>T	c.(1429-1431)gaC>gaT	p.D477D	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.D261D	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	477	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCAGCCAGACGAGGATTTCA	0.338000													8	57					0	0	0.307466	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958345	153958345	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:153958345G>A	ENST00000356448.4	+	12	2561	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465093.1_Silent_p.E759E|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	759	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGAAAGTGGAGATGCTACTAG	0.453000													11	10					0	0	0.411799	0	0
GMIP	51291	broad.mit.edu	37	19	19744825	19744825	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:19744825G>A	ENST00000203556.4	-	19	2396	c.2259C>T	c.(2257-2259)taC>taT	p.Y753Y	GMIP_ENST00000445806.2_Silent_p.Y724Y|GMIP_ENST00000587238.1_Silent_p.Y727Y	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	753	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGATCTGCTCGTAGTGCACGA	0.687000													14	73					0	0	0.457914	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020528	46020528	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr21:46020528G>A	ENST00000380102.2	+	1	32	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	3						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CAGCATGGCCGCGTCCACTAT	0.577000													26	34					0	0	0.717897	0	0
ENPP7	339221	broad.mit.edu	37	17	77708847	77708847	+	Silent	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:77708847G>C	ENST00000328313.5	+	3	626	c.405G>C	c.(403-405)ctG>ctC	p.L135L		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	135					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCAGGGCCTGAGGGCTGGCT	0.587000													23	30					0	0	0.693898	0	0
FERMT1	55612	broad.mit.edu	37	20	6057939	6057939	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr20:6057939C>A	ENST00000217289.4	-	15	2703	c.1915G>T	c.(1915-1917)Gat>Tat	p.D639Y	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.D382Y	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	639	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATCTTGCAATCTGCACTCAGG	0.468000											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	46					1.5842e-08	1.64782e-08	0.435327	1	0
EXOSC10	5394	broad.mit.edu	37	1	11140842	11140842	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:11140842C>T	ENST00000544779.1	-	12	1570	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	EXOSC10_ENST00000376936.4_Missense_Mutation_p.R522H|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R522H			Q01780	EXOSX_HUMAN	exosome component 10	522	HRDC.				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATCTTCCCTGCGAGCTGTTTT	0.423000													39	113					0	0	0.834066	0	0
CBR4	84869	broad.mit.edu	37	4	169911467	169911467	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:169911467G>A	ENST00000306193.3	-	5	716	c.548C>T	c.(547-549)aCa>aTa	p.T183I	CBR4_ENST00000509108.1_Intron	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	183					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		CGTCATATCTGTGTGTACAAA	0.323000													12	13					0	0	0.387290	0	0
COL6A6	131873	broad.mit.edu	37	3	130282312	130282312	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:130282312G>A	ENST00000358511.6	+	2	496	c.465G>A	c.(463-465)cgG>cgA	p.R155R	COL6A6_ENST00000453409.2_Silent_p.R155R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	155	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGCCCTGCGGAAAGACGGAG	0.498000													43	39					0	0	0.864702	0	0
GAK	2580	broad.mit.edu	37	4	843557	843557	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:843557C>T	ENST00000314167.4	-	28	3950	c.3840G>A	c.(3838-3840)gcG>gcA	p.A1280A	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.A1201A	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1280	J.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACGGCTGCCCCGCAGCCTATG	0.672000													12	11					0	0	0.411799	0	0
DMXL1	1657	broad.mit.edu	37	5	118580221	118580221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:118580221G>A	ENST00000311085.8	+	42	8889	c.8809G>A	c.(8809-8811)Gat>Aat	p.D2937N	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2958N|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2937										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CGTTGCTGTTGATCCAACTGA	0.408000													51	19					0	0	0.870114	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696436	69696436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:69696436C>T	ENST00000265403.7	+	6	1453	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R392*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	476					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CAAACATCTTCGAGTTGCAGC	0.468000													57	122					0	0	0.870114	0	0
DSTYK	25778	broad.mit.edu	37	1	205138471	205138471	+	Missense_Mutation	SNP	G	G	C	rs146013414		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:205138471G>C	ENST00000367162.3	-	3	1174	c.1144C>G	c.(1144-1146)Cgg>Ggg	p.R382G	DSTYK_ENST00000367161.3_Missense_Mutation_p.R382G|DSTYK_ENST00000367160.4_Missense_Mutation_p.R382G	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	382						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGCAGGTCCCGCTGCATGTCA	0.488000													15	61					0	0	0.457914	0	0
FCGBP	8857	broad.mit.edu	37	19	40421170	40421170	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:40421170C>T	ENST00000221347.6	-	5	2758	c.2751G>A	c.(2749-2751)gtG>gtA	p.V917V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	917	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGTGTAGCTCACAGTCTGGC	0.711000													47	218					0	0	0.870114	0	0
LGALS12	85329	broad.mit.edu	37	11	63273899	63273899	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:63273899C>T	ENST00000255684.5	+	1	344	c.35C>T	c.(34-36)aCg>aTg	p.T12M	LGALS12_ENST00000340246.5_Missense_Mutation_p.T12M|LGALS12_ENST00000394618.3_Missense_Mutation_p.T12M	NM_001142536.1	NP_001136008.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	12					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCTCCTGGAACGAGGATCTAC	0.572000													20	72					0	0	0.592651	0	0
FLG	2312	broad.mit.edu	37	1	152284112	152284112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:152284112G>A	ENST00000368799.1	-	3	3285	c.3250C>T	c.(3250-3252)Cag>Tag	p.Q1084*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1084	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACACTGACTGTGTGTCTGAC	0.577000									Ichthyosis				149	529					0	0	0.870114	0	0
TSSK6	83983	broad.mit.edu	37	19	19626190	19626190	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:19626190C>T	ENST00000360913.3	-	1	648	c.47G>A	c.(46-48)cGc>cAc	p.R16H	TSSK6_ENST00000585580.3_Missense_Mutation_p.R16H			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	16	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TCCAATTGTGCGGCCCAGCTT	0.652000													4	109					0	0	0.150653	0	0
VPS13B	157680	broad.mit.edu	37	8	100847894	100847894	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:100847894G>C	ENST00000358544.2	+	54	10056	c.9945G>C	c.(9943-9945)ttG>ttC	p.L3315F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L3290F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3315					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCTACTTTTGAGAGTTGAAC	0.443000													36	55					0	0	0.788014	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382415	41382415	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:41382415C>T	ENST00000377801.3	-	2	399	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.E109K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	109	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAATAGAGTTCATTGTCGGGG	0.438000													19	126					0	0	0.592651	0	0
MAP4K1	11184	broad.mit.edu	37	19	39098539	39098539	+	Silent	SNP	T	T	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:39098539T>A	ENST00000591517.1	-	16	1150	c.1122A>T	c.(1120-1122)tcA>tcT	p.S374S	MAP4K1_ENST00000589130.1_Silent_p.S370S|MAP4K1_ENST00000396857.2_Silent_p.S374S|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_Silent_p.S36S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	374					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGACGACTCTGACAGTTGCT	0.617000													8	38					0	0	0.335167	0	0
SMURF2	64750	broad.mit.edu	37	17	62552001	62552001	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:62552001G>A	ENST00000262435.9	-	14	1734	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	516	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CAAGGTAATTGACTTCCCAAG	0.373000													28	32					0	0	0.706142	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479826	12479826	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr18:12479826T>C	ENST00000409402.4	-	10	1543	c.1276A>G	c.(1276-1278)Atg>Gtg	p.M426V	SPIRE1_ENST00000410092.3_Missense_Mutation_p.M412V|SPIRE1_ENST00000383356.2_Missense_Mutation_p.M253V|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.M215V|SPIRE1_ENST00000453447.2_Missense_Mutation_p.M292V	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	426						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CCATTCACCATAGATGACTCC	0.443000													29	18					0	0	0.760397	0	0
NXPH1	30010	broad.mit.edu	37	7	8790950	8790950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr7:8790950G>A	ENST00000405863.1	+	3	1278	c.367G>A	c.(367-369)Gat>Aat	p.D123N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D6N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	123	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGGATGGGGCGATTTTCATTC	0.443000													22	92					0	0	0.654019	0	0
TNNT3	7140	broad.mit.edu	37	11	1955812	1955812	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:1955812G>A	ENST00000381558.1	+	12	772	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	TNNT3_ENST00000381589.3_Missense_Mutation_p.E171K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E176K|TNNT3_ENST00000278317.6_Missense_Mutation_p.E173K|TNNT3_ENST00000381549.3_Missense_Mutation_p.E165K|TNNT3_ENST00000446240.1_Missense_Mutation_p.E154K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E175K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E165K|TNNT3_ENST00000360603.3_Missense_Mutation_p.E167K|TNNT3_ENST00000397304.2_Missense_Mutation_p.E154K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397301.1_Missense_Mutation_p.E184K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	184					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GACAGCCCGGGAAATGAAGAA	0.587000													10	11					0	0	0.387290	0	0
SLC12A7	10723	broad.mit.edu	37	5	1074783	1074783	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:1074783G>A	ENST00000264930.5	-	16	2014	c.1971C>T	c.(1969-1971)gcC>gcT	p.A657A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	657					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACTCCTTCTCGGCCCTGTGGG	0.662000													13	48					0	0	0.435327	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702185	33702185	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:33702185G>C	ENST00000253188.4	-	7	1108	c.962C>G	c.(961-963)tCc>tGc	p.S321C		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CAGAGCCACGGAGACAGGCAT	0.612000													39	119					0	0	0.827153	0	0
ZNF567	163081	broad.mit.edu	37	19	37203318	37203318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:37203318G>C	ENST00000536254.2	+	4	262	c.40G>C	c.(40-42)Gac>Cac	p.D14H	ZNF567_ENST00000360729.4_5'UTR|ZNF567_ENST00000585696.1_5'UTR|ZNF567_ENST00000392163.2_5'UTR|ZNF567_ENST00000588311.1_5'UTR			Q8N184	ZN567_HUMAN	zinc finger protein 567	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGTGACTGTGGACTTCACTCA	0.463000													12	96					0	0	0.435327	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847646	96847646	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:96847646G>C	ENST00000375360.3	+	3	536	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E118Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	66							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTGCAAGTATGAGAACCCAGC	0.512000													45	50					0	0	0.870114	0	0
NAPG	8774	broad.mit.edu	37	18	10526138	10526138	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr18:10526138C>T	ENST00000322897.6	+	1	108	c.39C>T	c.(37-39)ctC>ctT	p.L13L	NAPG_ENST00000542979.1_5'UTR	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	13					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						TGGAACACCTCGCCAAAGCAG	0.632000													11	23					0	0	0.411799	0	0
SNIP1	79753	broad.mit.edu	37	1	38003474	38003474	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:38003474C>G	ENST00000296215.6	-	4	1138	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	356					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TTGAGTACATCCTTTTCTTTT	0.423000													25	95					0	0	0.667858	0	0
DYSF	8291	broad.mit.edu	37	2	71766312	71766312	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:71766312G>A	ENST00000258104.3	+	16	1700	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	DYSF_ENST00000410041.1_Missense_Mutation_p.V507M|DYSF_ENST00000429174.2_Missense_Mutation_p.V475M|DYSF_ENST00000413539.2_Missense_Mutation_p.V506M|DYSF_ENST00000409366.1_Missense_Mutation_p.V476M|DYSF_ENST00000409762.1_Missense_Mutation_p.V506M|DYSF_ENST00000409744.1_Missense_Mutation_p.V476M|DYSF_ENST00000394120.2_Missense_Mutation_p.V476M|DYSF_ENST00000409582.3_Missense_Mutation_p.V506M|DYSF_ENST00000409651.1_Missense_Mutation_p.V507M|DYSF_ENST00000410020.3_Missense_Mutation_p.V507M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	475	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAATGACATCGTGGCTACCAC	0.557000													32	45					0	0	0.827153	0	0
TSSC2	650368	broad.mit.edu	37	11	3429979	3429979	+	RNA	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:3429979G>C	ENST00000529482.1	+	0	2108																											GAACCTGCGGGAGTCGCAGCA	0.532000													38	30					0	0	0.827153	0	0
BPIFB6	128859	broad.mit.edu	37	20	31629775	31629775	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr20:31629775G>A	ENST00000349552.1	+	12	1142		c.e12-1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6							extracellular region	lipid binding										CTCCCCCACAGATTACTGAGC	0.602000													8	33					0	0	0.278610	0	0
MCM3AP	8888	broad.mit.edu	37	21	47693319	47693319	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr21:47693319T>A	ENST00000397708.1	-	8	2433	c.2179A>T	c.(2179-2181)Acg>Tcg	p.T727S	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T727S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	727					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGCCACGCGTGCGGTTCCAC	0.493000													13	55					0	0	0.479597	0	0
ITGA2B	3674	broad.mit.edu	37	17	42463414	42463414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:42463414C>T	ENST00000262407.5	-	2	305	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ITGA2B_ENST00000353281.4_Missense_Mutation_p.E92K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	92					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGGCCGCCCTCGGCCCTCCAG	0.697000													24	1					0	0	0.654019	0	0
SYTL1	84958	broad.mit.edu	37	1	27679978	27679978	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:27679978C>T	ENST00000543823.1	+	13	2010	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Splice_Site_p.T504T			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	516					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCTGGGCACCGGTAAGtggg	0.677000													4	21					0	0	0.150653	0	0
NOSIP	51070	broad.mit.edu	37	19	50059586	50059586	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:50059586G>A	ENST00000391853.3	-	9	973	c.822C>T	c.(820-822)atC>atT	p.I274I	NOSIP_ENST00000596358.1_Silent_p.I274I|NOSIP_ENST00000339093.3_Silent_p.I277I	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	274					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCTGCAGCACGATGATGTCGC	0.632000													15	2					0	0	0.457914	0	0
CDC27	996	broad.mit.edu	37	17	45219253	45219253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:45219253C>T	ENST00000066544.3	-	12	1610	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E	CDC27_ENST00000531206.1_Missense_Mutation_p.G512E|CDC27_ENST00000446365.2_Missense_Mutation_p.G445E|CDC27_ENST00000527547.1_Missense_Mutation_p.G505E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	506					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATAGGCCCTTCCAATTTGGCA	0.333000													6	93					0	0	0.278610	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31884648	31884648	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr22:31884648C>T	ENST00000397525.1	-	2	280	c.57G>A	c.(55-57)aaG>aaA	p.K19K	EIF4ENIF1_ENST00000330125.5_Silent_p.K19K|EIF4ENIF1_ENST00000397523.1_Silent_p.K19K|EIF4ENIF1_ENST00000344710.5_Silent_p.K19K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	19						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGGAGGCTTCTTCAGGTCAA	0.443000													21	48					0	0	0.608945	0	0
SAMD4A	23034	broad.mit.edu	37	14	55241653	55241653	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:55241653C>T	ENST00000251091.5	+	8	1758	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	SAMD4A_ENST00000392067.3_Splice_Site_p.R573*|SAMD4A_ENST00000357634.3_Splice_Site_p.R572*|SAMD4A_ENST00000554335.1_Splice_Site_p.R573*|SAMD4A_ENST00000555192.1_Splice_Site_p.R164*	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	573					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTCTCACAGTCGAGGCTTTGG	0.577000													8	35					0	0	0.307466	0	0
VWA2	340706	broad.mit.edu	37	10	116049058	116049058	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr10:116049058C>T	ENST00000603594.1	+	12	2253	c.1932C>T	c.(1930-1932)ggC>ggT	p.G644G	VWA2_ENST00000392982.3_Silent_p.G644G	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	644	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCGGGAGAGGCGCAGAGGATG	0.632000													16	23					0	0	0.520397	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004412	44004412	+	Silent	SNP	G	G	A	rs150134257		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr22:44004412G>A	ENST00000262726.7	-	22	2884	c.2631C>T	c.(2629-2631)taC>taT	p.Y877Y	EFCAB6_ENST00000396231.2_Silent_p.Y725Y	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	877	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TATCAAAACCGTACAGTGCGT	0.443000													35	14					0	0	0.779181	0	0
SVOPL	136306	broad.mit.edu	37	7	138281251	138281251	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr7:138281251C>G	ENST00000421622.1	-	11	1226	c.1018G>C	c.(1018-1020)Ggg>Cgg	p.G340R	SVOPL_ENST00000419765.3_Missense_Mutation_p.G460R|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Missense_Mutation_p.G308R|SVOPL_ENST00000436657.1_Missense_Mutation_p.G308R			Q8N434	SVOPL_HUMAN	SVOP-like	460						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CACAGGGCCCCCAGTATTGAT	0.448000													10	41					0	0	0.387290	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221147	56221147	+	Missense_Mutation	SNP	C	C	G	rs75252551		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr12:56221147C>G	ENST00000357606.3	-	3	1585	c.1296G>C	c.(1294-1296)ttG>ttC	p.L432F	DNAJC14_ENST00000317287.5_Missense_Mutation_p.L432F|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.D62H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L432F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	432					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAGCCATGGTCAAGAGTCGAG	0.527000													42	100					0	0	0.840704	0	0
FPGT	8790	broad.mit.edu	37	1	74671393	74671393	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:74671393C>T	ENST00000609362.1	+	4	1699	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Silent_p.F567F|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_3'UTR|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Silent_p.F300F	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTCAGCATTCAGCCTGAATA	0.353000													33	23					0	0	0.740014	0	0
LPIN1	23175	broad.mit.edu	37	2	11905692	11905692	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:11905692G>A	ENST00000256720.2	+	2	118	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	LPIN1_ENST00000425416.2_Missense_Mutation_p.G15S|LPIN1_ENST00000396099.1_Missense_Mutation_p.G15S|LPIN1_ENST00000449576.2_Missense_Mutation_p.G58S|LPIN1_ENST00000396098.1_Missense_Mutation_p.G15S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	9	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCAGTTAGCCGGCCAGGTGTT	0.488000													38	81					0	0	0.827153	0	0
C5orf46	389336	broad.mit.edu	37	5	147286041	147286041	+	Silent	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:147286041C>G	ENST00000515291.1	-	1	60	c.24G>C	c.(22-24)ctG>ctC	p.L8L	C5orf46_ENST00000318315.4_Silent_p.L8L|C5orf46_ENST00000510432.1_5'UTR			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	8						extracellular region				NS(1)|lung(1)|prostate(1)	3						GGACAACTGTCAGGCGAAGTA	0.448000													10	29					0	0	0.387290	0	0
FAM222A	84915	broad.mit.edu	37	12	110207073	110207073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr12:110207073C>T	ENST00000538780.1	+	3	2055	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	FAM222A_ENST00000358906.3_Missense_Mutation_p.R447C|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	447																	TGCCCACATCCGCCTACCCGT	0.672000													8	11					0	0	0.278610	0	0
PLEC	5339	broad.mit.edu	37	8	144997754	144997754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:144997754C>T	ENST00000322810.4	-	31	6923	c.6754G>A	c.(6754-6756)Gag>Aag	p.E2252K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2142K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2119K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2101K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2115K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2083K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2138K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2093K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2115K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2252	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCAGCCGCTCGGCCTCTTCC	0.761000													20	22					0	0	0.592651	0	0
MCM3AP	8888	broad.mit.edu	37	21	47693318	47693318	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr21:47693318G>A	ENST00000397708.1	-	8	2434	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T727M			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	727					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TATGCCACGCGTGCGGTTCCA	0.488000													13	56					0	0	0.500413	0	0
NOC3L	64318	broad.mit.edu	37	10	96099552	96099552	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr10:96099552G>A	ENST00000371361.3	-	17	2006	c.1906C>T	c.(1906-1908)Cat>Tat	p.H636Y	NOC3L_ENST00000543788.1_Missense_Mutation_p.H374Y|NOC3L_ENST00000371350.1_Missense_Mutation_p.H636Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	636						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GGAAGAACATGAAGAGCAAGG	0.398000													47	0					0	0	0.870114	0	0
ADTRP	84830	broad.mit.edu	37	6	11714727	11714727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:11714727C>T	ENST00000414691.3	-	6	1087	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	ADTRP_ENST00000229583.5_Missense_Mutation_p.R244Q|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	226						integral to membrane											CCTCTTCTTCCGTGGCTGCCT	0.413000													16	57					0	0	0.557998	0	0
THOP1	7064	broad.mit.edu	37	19	2808385	2808385	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:2808385C>T	ENST00000307741.6	+	9	1601	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	THOP1_ENST00000586677.1_Silent_p.D345D|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	466					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGCATGACGAGGTGGAGA	0.692000													7	20					0	0	0.307466	0	0
SPECC1	92521	broad.mit.edu	37	17	20000026	20000026	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:20000026G>A	ENST00000395529.3	+	2	114	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	SPECC1_ENST00000261503.5_Missense_Mutation_p.R21Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.R21Q|SPECC1_ENST00000472876.1_Intron	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	21						nucleus		p.R21Q(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGCCCAGACCGGGTGCGGCCT	0.572000													45	161					0	0	0.870114	0	0
CLN3	1201	broad.mit.edu	37	16	28498819	28498819	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:28498819C>T	ENST00000569430.1	-	8	1237	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	CLN3_ENST00000333496.9_Missense_Mutation_p.V116I|CLN3_ENST00000565316.1_Missense_Mutation_p.V140I|CLN3_ENST00000568224.1_Missense_Mutation_p.V62I|CLN3_ENST00000395653.4_Missense_Mutation_p.V40I|CLN3_ENST00000357857.9_Missense_Mutation_p.V86I|CLN3_ENST00000354630.5_Missense_Mutation_p.V140I|CLN3_ENST00000360019.2_Missense_Mutation_p.V140I|CLN3_ENST00000535392.1_Missense_Mutation_p.V62I|CLN3_ENST00000567963.1_Missense_Mutation_p.V140I|CLN3_ENST00000359984.7_Missense_Mutation_p.V140I|CLN3_ENST00000357806.7_Missense_Mutation_p.R113H|CLN3_ENST00000357076.5_Missense_Mutation_p.V140I|CLN3_ENST00000355477.5_Missense_Mutation_p.V140I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	140					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GCAACCAGGACGAAGCTTCCA	0.577000													12	74					0	0	0.435327	0	0
UBE4A	9354	broad.mit.edu	37	11	118242356	118242356	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:118242356C>G	ENST00000252108.3	+	5	667	c.536C>G	c.(535-537)tCc>tGc	p.S179C	UBE4A_ENST00000431736.2_Missense_Mutation_p.S179C	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	179					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TACCTTTACTCCTGCTTCCAG	0.443000													53	54					0	0	0.870114	0	0
AIM1L	55057	broad.mit.edu	37	1	26658089	26658089	+	Missense_Mutation	SNP	G	G	A	rs147622110	by1000genomes	TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:26658089G>A	ENST00000527815.1	-	14	1632	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	AIM1L_ENST00000308182.5_Missense_Mutation_p.T357M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	357	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTCGAAGTTCGTCTCATCAAA	0.582000													13	61					0	0	0.457914	0	0
TMC4	147798	broad.mit.edu	37	19	54667405	54667405	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:54667405C>G	ENST00000416963.1	-	1	20	c.21G>C	c.(19-21)caG>caC	p.Q7H	TMC4_ENST00000376591.4_Intron|TMC4_ENST00000301187.4_Intron			Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	0						integral to membrane		p.Q7H(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAACATCCCTCTGACCGCCCC	0.572000											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	2					0	0	0.706142	0	0
CSMD1	64478	broad.mit.edu	37	8	2800099	2800099	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:2800099G>T	ENST00000602557.1	-	70	10988	c.10433C>A	c.(10432-10434)tCc>tAc	p.S3478Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.S3301Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S3301Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.S3300Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3478Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3477Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3478						integral to membrane				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)		GTAATGACTGGAAGAGTCTTG	0.373000													5	14					0.014758	0.0148152	0.184627	1	0
FANCC	2176	broad.mit.edu	37	9	97897751	97897751	+	Silent	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:97897751G>C	ENST00000289081.3	-	8	974	c.720C>G	c.(718-720)gtC>gtG	p.V240V	FANCC_ENST00000375305.1_Silent_p.V240V	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	240					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCCAGAGGCAGACTACAGCTG	0.383000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	29					0	0	0.520397	0	0
BNC2	54796	broad.mit.edu	37	9	16419108	16419108	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:16419108C>G	ENST00000380672.4	-	7	3236	c.3179G>C	c.(3178-3180)aGa>aCa	p.R1060T	BNC2_ENST00000545497.1_Missense_Mutation_p.R965T|BNC2_ENST00000380667.2_Missense_Mutation_p.R993T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.R1060K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGCATTTCTCTCAAATGCAC	0.453000													31	2					0	0	0.717897	0	0
HNF1A	6927	broad.mit.edu	37	12	121435299	121435299	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr12:121435299G>C	ENST00000257555.6	+	7	1558	c.1332G>C	c.(1330-1332)caG>caC	p.Q444H	HNF1A_ENST00000400024.2_Missense_Mutation_p.Q444H|HNF1A_ENST00000541395.1_Missense_Mutation_p.Q444H|HNF1A_ENST00000538626.1_Missense_Mutation_p.Q26H|HNF1A_ENST00000544413.1_Missense_Mutation_p.Q444H|HNF1A_ENST00000402929.1_3'UTR			P20823	HNF1A_HUMAN	HNF1 homeobox A	444					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGGCACAGAGTGTGCCGG	0.662000									Hepatic Adenoma, Familial Clustering of				29	0					0	0	0.769981	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24459505	24459505	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:24459505G>A	ENST00000335125.6	+	2	369	c.243G>A	c.(241-243)ctG>ctA	p.L81L	DHRS4L2_ENST00000545240.1_Silent_p.L81L|DHRS4L2_ENST00000558753.1_Silent_p.L81L|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.L81L|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.L79L|DHRS4L2_ENST00000537912.1_Silent_p.L81L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	53							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGGAGGGGCTGAGCGTGACGG	0.692000													24	48					0	0	0.654019	0	0
RBM26	64062	broad.mit.edu	37	13	79894806	79894806	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr13:79894806C>G	ENST00000438737.2	-	22	3414	c.2974G>C	c.(2974-2976)Gat>Cat	p.D992H	RBM26_ENST00000267229.7_Missense_Mutation_p.D965H|RBM26_ENST00000438724.1_Missense_Mutation_p.D968H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	992					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCATCATCATCTTGAAGTAAT	0.323000													46	22					0	0	0.870114	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846066	106846066	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:106846066C>T	ENST00000276185.4	+	16	4896	c.4896C>T	c.(4894-4896)aaC>aaT	p.N1632N				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1632						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGGACACCAACGAGCTGCTGA	0.637000													12	8					0	0	0.411799	0	0
GRIA4	2893	broad.mit.edu	37	11	105836759	105836759	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:105836759G>A	ENST00000393127.2	+	15	2826	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.E794K|GRIA4_ENST00000530497.1_Intron	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	794					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CGACAAAGGAGAATGTGGCAG	0.423000													29	0					0	0	0.729181	0	0
LOC440040	440040	broad.mit.edu	37	11	49597925	49597925	+	RNA	SNP	T	T	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:49597925T>G	ENST00000527477.1	+	0	529																											CTCTTTTCTGTTCATCACCAG	0.512000													11	32					0	0	0.387290	0	0
CAPN5	726	broad.mit.edu	37	11	76804826	76804826	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:76804826G>A	ENST00000278559.3	+	3	453	c.264G>A	c.(262-264)tcG>tcA	p.S88S	CAPN5_ENST00000529629.1_Silent_p.S88S|CAPN5_ENST00000456580.2_Silent_p.S128S|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	88	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CAGCCTGCTCGTCACTTGCCT	0.657000													5	28					0	0	0.217242	0	0
CTU1	90353	broad.mit.edu	37	19	51602194	51602194	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:51602194G>A	ENST00000421832.2	-	3	755	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_145232.3	NP_660275.2	Q7Z7A3	CTU1_HUMAN	cytosolic thiouridylase subunit 1	237					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|transferase activity|tRNA binding			large_intestine(2)|lung(1)|urinary_tract(1)	4						GCGCGTAGACGCACTCCTCGG	0.746000													16	1					0	0	0.592651	0	0
CAPN1	823	broad.mit.edu	37	11	64972327	64972327	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:64972327G>C	ENST00000527323.1	+	10	1579	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	CAPN1_ENST00000524773.1_Missense_Mutation_p.E447Q|CAPN1_ENST00000533129.1_Missense_Mutation_p.E447Q|CAPN1_ENST00000533820.1_Missense_Mutation_p.E447Q|CAPN1_ENST00000279247.6_Missense_Mutation_p.E447Q			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	447	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CGCGGTCTACGAGGTCAGGAG	0.682000											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	19					0	0	0.779181	0	0
CDAN1	146059	broad.mit.edu	37	15	43020879	43020879	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr15:43020879G>A	ENST00000356231.3	-	20	2798	c.2775C>T	c.(2773-2775)caC>caT	p.H925H		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	925						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCTGGGCCCCGTGAGGGCACA	0.587000													43	69					0	0	0.847076	0	0
GLI4	2738	broad.mit.edu	37	8	144358717	144358717	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:144358717G>C	ENST00000340042.1	+	4	959	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.E292Q	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	292						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACACGGGTGAGAAGCCCTA	0.657000													17	16					0	0	0.500413	0	0
SYT16	83851	broad.mit.edu	37	14	62462850	62462850	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:62462850C>T	ENST00000430451.2	+	1	310	c.113C>T	c.(112-114)tCg>tTg	p.S38L	SYT16_ENST00000446982.2_Missense_Mutation_p.S38L	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	38										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTATCTGCTTCGCTGGTTAAC	0.403000													41	69					0	0	0.840704	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087813	57087813	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:57087813G>A	ENST00000532437.1	-	2	779	c.468C>T	c.(466-468)ttC>ttT	p.F156F	TNKS1BP1_ENST00000358252.3_Silent_p.F156F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	156	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGTGGCCGCGAAGCGCTCTG	0.667000													63	67					0	0	0.870114	0	0
TNFSF8	944	broad.mit.edu	37	9	117666360	117666360	+	Missense_Mutation	SNP	C	C	T	rs145748228		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:117666360C>T	ENST00000223795.2	-	4	669	c.556G>A	c.(556-558)Gta>Ata	p.V186I	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	186					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCTGGTATACGTGTTTCGTT	0.418000													29	111					0	0	0.750413	0	0
RABL6	55684	broad.mit.edu	37	9	139733422	139733422	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:139733422G>A	ENST00000371675.3	+	11	1882	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	RABL6_ENST00000311502.7_Missense_Mutation_p.E448K|RABL6_ENST00000432842.2_Missense_Mutation_p.E410K|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Missense_Mutation_p.E449K					RAB, member RAS oncogene family-like 6																		TGTGGACCTCGAAGACCAGCC	0.652000													6	14					0	0	0.307466	0	0
MN1	4330	broad.mit.edu	37	22	28193789	28193789	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr22:28193789C>T	ENST00000302326.4	-	1	3697	c.2743G>A	c.(2743-2745)Ggc>Agc	p.G915S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	915							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGGCTGGTGCCGTCCCCCTGG	0.721000			T	ETV6	"""AML, meningioma"""								8	16					0	0	0.278610	0	0
PBRM1	55193	broad.mit.edu	37	3	52597412	52597412	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:52597412C>T	ENST00000356770.4	-	23	3879	c.3877G>A	c.(3877-3879)Gat>Aat	p.D1293N	PBRM1_ENST00000337303.4_Missense_Mutation_p.D1325N|PBRM1_ENST00000409057.1_Missense_Mutation_p.D1325N|PBRM1_ENST00000296302.7_Missense_Mutation_p.D1325N|PBRM1_ENST00000409767.1_Missense_Mutation_p.D1340N|PBRM1_ENST00000410007.1_Missense_Mutation_p.D1300N|PBRM1_ENST00000394830.3_Missense_Mutation_p.D1300N|PBRM1_ENST00000409114.3_Missense_Mutation_p.D1340N|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1325					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCAATATCATCATCTCCA	0.473000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								46	58					0	0	0.847076	0	0
PTPN4	5775	broad.mit.edu	37	2	120643405	120643405	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:120643405C>A	ENST00000263708.2	+	9	1393	c.622C>A	c.(622-624)Cta>Ata	p.L208I		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	208	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTTAATTACCTAAACACAGC	0.338000													32	120					4.65686e-17	4.96349e-17	0.788014	1	0
CDH15	1013	broad.mit.edu	37	16	89258803	89258803	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:89258803C>T	ENST00000289746.2	+	11	1871	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	602					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCACAGGCCTCAGCCTGGGCG	0.736000													7	1					0	0	0.248553	0	0
POMT1	10585	broad.mit.edu	37	9	134381811	134381811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:134381811G>A	ENST00000354713.4	+	3	300	c.144G>A	c.(142-144)tgG>tgA	p.W48*	POMT1_ENST00000541219.1_Missense_Mutation_p.A2T|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000423007.1_Missense_Mutation_p.G84D|POMT1_ENST00000372228.3_Missense_Mutation_p.G84D|POMT1_ENST00000402686.3_Missense_Mutation_p.G84D|POMT1_ENST00000341012.7_Missense_Mutation_p.G30D|POMT1_ENST00000419118.2_5'UTR			Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	48					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGATTCGATGGCAATTTTTTG	0.353000													4	213					0	0	0.248553	0	0
OR8B12	219858	broad.mit.edu	37	11	124413492	124413492	+	Missense_Mutation	SNP	G	G	A	rs138322592	byFrequency	TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:124413492G>A	ENST00000306842.2	-	1	83	c.59C>T	c.(58-60)cCg>cTg	p.P20L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCGCAGTCCCGGCTGGTGGGT	0.537000													43	2					0	0	0.870114	0	0
RPF2	84154	broad.mit.edu	37	6	111329240	111329240	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:111329240G>A	ENST00000441448.2	+	7	485		c.e7-1			NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)							nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TTTTTTTTTAGAACAGTAAAT	0.259000													7	55					0	0	0.435327	0	0
YY1AP1	55249	broad.mit.edu	37	1	155657886	155657886	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:155657886G>A	ENST00000368340.5	-	1	478	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	YY1AP1_ENST00000476093.1_Intron|YY1AP1_ENST00000355499.4_5'UTR|YY1AP1_ENST00000347088.5_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_5'UTR|YY1AP1_ENST00000359205.5_5'UTR|YY1AP1_ENST00000404643.1_5'UTR|YY1AP1_ENST00000407221.1_5'UTR|DAP3_ENST00000471642.2_5'UTR|YY1AP1_ENST00000295566.4_Missense_Mutation_p.L52F|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000438245.2_5'UTR|YY1AP1_ENST00000405763.3_Missense_Mutation_p.L124F|YY1AP1_ENST00000368339.5_Missense_Mutation_p.L124F|YY1AP1_ENST00000361831.5_5'UTR	NM_001198904.1	NP_001185833.1			YY1 associated protein 1									p.L124I(1)|p.L52I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAGCGATGAGAGTACAGGGA	0.642000													29	31					0	0	0.750413	0	0
WDR52	55779	broad.mit.edu	37	3	113120125	113120125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:113120125C>T	ENST00000393845.2	-	11	1402	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	WDR52_ENST00000295868.2_Missense_Mutation_p.G446R	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	446										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATATGGCTCCATTGGCATCC	0.249000													24	32					0	0	0.681144	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687936	5687936	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:5687936G>A	ENST00000581521.1	+	10	1316	c.841G>A	c.(841-843)Gtc>Atc	p.V281I	HSD11B1L_ENST00000342970.2_Missense_Mutation_p.V194I|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.V281I|HSD11B1L_ENST00000577917.1_Silent_p.T145T|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.V200I|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.V147I|HSD11B1L_ENST00000411793.2_Silent_p.T92T|HSD11B1L_ENST00000339423.2_Missense_Mutation_p.V281I|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.V147I|HSD11B1L_ENST00000423665.2_Silent_p.T226T|RPL36_ENST00000582380.2_Intron			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	0						extracellular region	binding|oxidoreductase activity										GGAGCTCAACGTCACGGCCGC	0.687000													3	8					0	0	0.115264	0	0
RB1	5925	broad.mit.edu	37	13	49050864	49050864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr13:49050864C>T	ENST00000267163.4	+	25	2686	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	850	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.Q850*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAAATAAATCAGATGGTATG	0.363000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			31	3					0	0	0.740014	0	0
RCOR3	55758	broad.mit.edu	37	1	211486172	211486172	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:211486172G>C	ENST00000367005.4	+	10	1153	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000452621.2_Missense_Mutation_p.E396Q|RCOR3_ENST00000419091.2_Missense_Mutation_p.E396Q|RCOR3_ENST00000367006.4_Intron	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GTTTAACTTAGAGGAGGTATT	0.428000													40	43					0	0	0.819951	0	0
ZNF536	9745	broad.mit.edu	37	19	30935447	30935447	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:30935447C>T	ENST00000355537.3	+	2	1125	c.978C>T	c.(976-978)gcC>gcT	p.A326A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCACGGCCGAGTCGGCCC	0.657000													46	398					0	0	0.864702	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74806946	74806946	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:74806946G>A	ENST00000380494.5	-	2	764	c.471C>T	c.(469-471)gtC>gtT	p.V157V	COL4A3BP_ENST00000261415.7_Silent_p.V29V|COL4A3BP_ENST00000405807.4_Silent_p.V29V	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	29					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CCTTACTGAGGACCCCGCAGC	0.667000													4	1					0	0	0.150653	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													3	52					0	0	0.115264	0	0
MTA1	9112	broad.mit.edu	37	14	105932829	105932829	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:105932829C>T	ENST00000331320.7	+	17	1905	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	MTA1_ENST00000406191.1_Missense_Mutation_p.T564M|MTA1_ENST00000435036.2_Missense_Mutation_p.T100M|MTA1_ENST00000405646.1_Missense_Mutation_p.T547M	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	564					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGCAGCCTGACGCCCGCCAAG	0.677000													7	9					0	0	0.248553	0	0
HECTD4	283450	broad.mit.edu	37	12	112694185	112694185	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr12:112694185C>A	ENST00000550722.1	-	21	3223	c.2828G>T	c.(2827-2829)gGa>gTa	p.G943V	HECTD4_ENST00000377560.5_Missense_Mutation_p.G907V|HECTD4_ENST00000430131.2_Missense_Mutation_p.G657V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGCGAGCTCCTGGGATATG	0.453000													33	91					4.23469e-30	4.58906e-30	0.779181	1	0
UBTF	7343	broad.mit.edu	37	17	42284684	42284684	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:42284684C>T	ENST00000302904.4	-	21	2713	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	UBTF_ENST00000526094.1_Missense_Mutation_p.E704K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_Missense_Mutation_p.E741K|UBTF_ENST00000533177.1_Missense_Mutation_p.E704K|UBTF_ENST00000529383.1_Missense_Mutation_p.E741K|UBTF_ENST00000343638.5_Missense_Mutation_p.E704K|UBTF_ENST00000393606.3_Missense_Mutation_p.E704K|UBTF_ENST00000527034.1_Missense_Mutation_p.M702I			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	741	Asp/Glu/Ser-rich (acidic).				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			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)		TCATTATCTTCATCCtcatcg	0.602000													13	2					0	0	0.435327	0	0
FER1L6	654463	broad.mit.edu	37	8	125052165	125052165	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr8:125052165G>A	ENST00000522917.1	+	20	2713	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.R836Q|FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	836	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACCAAGCCCGGGGCCTCATC	0.507000													35	101					0	0	0.769981	0	0
COL6A2	1292	broad.mit.edu	37	21	47537332	47537332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr21:47537332G>A	ENST00000300527.4	+	11	1122	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	COL6A2_ENST00000397763.1_Missense_Mutation_p.G340R|COL6A2_ENST00000357838.4_Missense_Mutation_p.G340R|COL6A2_ENST00000310645.5_Missense_Mutation_p.G340R|COL6A2_ENST00000409416.1_Missense_Mutation_p.G340R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	340	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGGCGCATCGGACCTCCTGG	0.677000													27	28					0	0	0.740014	0	0
NAV2	89797	broad.mit.edu	37	11	20065735	20065735	+	Missense_Mutation	SNP	G	G	A	rs140706274		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr11:20065735G>A	ENST00000396085.1	+	13	3477	c.3116G>A	c.(3115-3117)cGa>cAa	p.R1039Q	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.R993Q|NAV2_ENST00000311043.8_Missense_Mutation_p.R125Q|NAV2_ENST00000349880.4_Missense_Mutation_p.R1039Q|NAV2_ENST00000396087.3_Missense_Mutation_p.R1062Q|NAV2_ENST00000360655.4_Missense_Mutation_p.R975Q|NAV2_ENST00000533917.1_Missense_Mutation_p.R125Q|NAV2_ENST00000527559.2_Missense_Mutation_p.R991Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1062						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATGGCGGCGAGGCATGACA	0.602000													35	38					0	0	0.804634	0	0
HRCT1	646962	broad.mit.edu	37	9	35906532	35906532	+	Missense_Mutation	SNP	C	C	T	rs140751149	byFrequency	TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr9:35906532C>T	ENST00000354323.2	+	1	344	c.248C>T	c.(247-249)cCg>cTg	p.P83L		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	83	His-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TCTCATGTGCCGAATGTGGGC	0.687000													6	43					0	0	0.248553	0	0
HSPH1	10808	broad.mit.edu	37	13	31722222	31722222	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr13:31722222C>T	ENST00000320027.5	-	10	1596	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	HSPH1_ENST00000380405.4_Missense_Mutation_p.E418K|HSPH1_ENST00000445273.2_Missense_Mutation_p.E420K|HSPH1_ENST00000380406.5_Missense_Mutation_p.E377K|HSPH1_ENST00000429785.2_Missense_Mutation_p.E237K	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	418					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTAAAGACTTCATGAACACTA	0.398000													6	129					0	0	0.217242	0	0
PHF8	23133	broad.mit.edu	37	X	54069201	54069201	+	Silent	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:54069201C>G	ENST00000357988.5	-	2	427	c.69G>C	c.(67-69)acG>acC	p.T23T	PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000322659.8_5'UTR|PHF8_ENST00000338946.6_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	23					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CGGCCAGGTTCGTCGTGTCAA	0.627000											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	0					0	0	0.278610	0	0
LTBP1	4052	broad.mit.edu	37	2	33468804	33468804	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:33468804C>T	ENST00000404816.2	+	10	2305	c.1952C>T	c.(1951-1953)aCc>aTc	p.T651I	LTBP1_ENST00000407925.1_Missense_Mutation_p.T325I|LTBP1_ENST00000354476.3_Missense_Mutation_p.T651I|LTBP1_ENST00000402934.1_Missense_Mutation_p.T325I|LTBP1_ENST00000404525.1_Missense_Mutation_p.T325I|LTBP1_ENST00000390003.4_Missense_Mutation_p.T325I|LTBP1_ENST00000418533.2_Missense_Mutation_p.T325I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	651	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TATCGATGTACCTGCAAAATA	0.378000													12	60					0	0	0.387290	0	0
DMWD	1762	broad.mit.edu	37	19	46290007	46290007	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:46290007C>T	ENST00000270223.6	-	3	792	c.747G>A	c.(745-747)tcG>tcA	p.S249S	DMWD_ENST00000377735.3_Silent_p.S249S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	249					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGGGCGGGGCCGAGGCGCAGG	0.642000													23	20					0	0	0.654019	0	0
RGS8	85397	broad.mit.edu	37	1	182638878	182638878	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:182638878G>A	ENST00000483095.2	-	0	164				RGS8_ENST00000367556.1_De_novo_Start_OutOfFrame|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_De_novo_Start_OutOfFrame|RGS8_ENST00000258302.4_Intron			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						ACCCTTGCACGTCCTCTCACC	0.537000													5	17					0	0	0.184627	0	0
PSKH1	5681	broad.mit.edu	37	16	67942808	67942808	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:67942808C>T	ENST00000291041.5	+	2	326	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	52						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AAGCCGGGTTCCCAGCAGCAA	0.597000													29	37					0	0	0.729181	0	0
FTCD	10841	broad.mit.edu	37	21	47570313	47570313	+	Nonsense_Mutation	SNP	G	G	A	rs140217223		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr21:47570313G>A	ENST00000397748.1	-	6	806	c.763C>T	c.(763-765)Cga>Tga	p.R255*	FTCD_ENST00000291670.5_Nonsense_Mutation_p.R255*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Nonsense_Mutation_p.R255*|FTCD_ENST00000355384.2_Nonsense_Mutation_p.R255*|FTCD_ENST00000397743.1_Nonsense_Mutation_p.R255*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.R255*			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	255	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TGTGCTTCTCGGCAGGTCTCC	0.647000													5	77					0	0	0.184627	0	0
MAST3	23031	broad.mit.edu	37	19	18254596	18254596	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr19:18254596G>A	ENST00000262811.6	+	21	2276	c.2276G>A	c.(2275-2277)gGa>gAa	p.G759E		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACATCCTCTGGATCCTCCTGT	0.597000													21	26					0	0	0.639603	0	0
ZNF436	80818	broad.mit.edu	37	1	23694481	23694481	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:23694481G>A	ENST00000314011.4	-	2	154	c.18C>T	c.(16-18)ctC>ctT	p.L6L	ZNF436_ENST00000374608.3_Silent_p.L6L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCCAGCCATGAGCAGGGTGG	0.602000													17	37					0	0	0.500413	0	0
ABCD1	215	broad.mit.edu	37	X	152991101	152991101	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chrX:152991101C>T	ENST00000218104.3	+	1	779	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	127	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCAAGGACCCGCGGGCTTTT	0.672000													22	0					0	0	0.608945	0	0
LPHN3	23284	broad.mit.edu	37	4	62863951	62863951	+	Silent	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr4:62863951G>A	ENST00000512091.2	+	20	3906	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L	LPHN3_ENST00000508946.1_Silent_p.L1053L|LPHN3_ENST00000507625.1_Silent_p.L1121L|LPHN3_ENST00000506746.1_Silent_p.L1121L|LPHN3_ENST00000508693.1_Silent_p.L1121L|LPHN3_ENST00000514157.1_Silent_p.L1053L|LPHN3_ENST00000506700.1_Silent_p.L1053L|LPHN3_ENST00000506720.1_Silent_p.L1121L|LPHN3_ENST00000514996.1_Silent_p.L1053L|LPHN3_ENST00000511324.1_Silent_p.L1121L|LPHN3_ENST00000514591.1_Silent_p.L1053L|LPHN3_ENST00000507164.1_Silent_p.L1121L|LPHN3_ENST00000504896.1_Silent_p.L1053L|LPHN3_ENST00000545650.1_Silent_p.L1053L|LPHN3_ENST00000509896.1_Silent_p.L1121L			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			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						CTGCTATACTGAAACCTGAAT	0.308000													34	10					0	0	0.779181	0	0
MYH7	4625	broad.mit.edu	37	14	23894579	23894579	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:23894579C>G	ENST00000355349.3	-	21	2497	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	779	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCAGCCTCTCGTCCCTCATT	0.587000													20	49					0	0	0.592651	0	0
TMEM184A	202915	broad.mit.edu	37	7	1588230	1588230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr7:1588230C>T	ENST00000297477.5	-	7	1055	c.739G>A	c.(739-741)Gag>Aag	p.E247K		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	247						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGCAGGAGCTCCCTGGTGGTG	0.612000													37	111					0	0	0.819951	0	0
ICK	22858	broad.mit.edu	37	6	52895899	52895899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr6:52895899G>C	ENST00000356971.3	-	6	811	c.322C>G	c.(322-324)Cag>Gag	p.Q108E	ICK_ENST00000350082.5_Missense_Mutation_p.Q108E	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	108	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGTAATATCTGATACATGATA	0.358000													22	3					0	0	0.693898	0	0
BANP	54971	broad.mit.edu	37	16	88017671	88017671	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:88017671C>T	ENST00000538234.1	+	4	359	c.168C>T	c.(166-168)ttC>ttT	p.F56F	BANP_ENST00000286122.7_Intron|BANP_ENST00000479780.2_Silent_p.F56F|BANP_ENST00000355022.4_Silent_p.F56F|BANP_ENST00000393207.1_Intron|BANP_ENST00000393208.2_Silent_p.F56F|BANP_ENST00000355163.5_Silent_p.F62F	NM_001173542.1	NP_001167013.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	54					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TCCAGTCATTCCTGTATTCCA	0.443000													12	20					0	0	0.457914	0	0
ANKRD2	26287	broad.mit.edu	37	10	99340615	99340615	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr10:99340615C>T	ENST00000307518.5	+	5	808	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	ANKRD2_ENST00000370655.1_Missense_Mutation_p.R154C|ANKRD2_ENST00000455090.1_Missense_Mutation_p.R154C|ANKRD2_ENST00000298808.5_Missense_Mutation_p.R181C			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	181					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGGACAGTTCCGTCGGACAGC	0.617000													6	20					0	0	0.248553	0	0
SLC39A11	201266	broad.mit.edu	37	17	70643734	70643734	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:70643734C>A	ENST00000542342.2	-	10	1106	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Missense_Mutation_p.G333C	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	340					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TAGCCCAGGCCAACGTCCAGT	0.517000													8	52					0.00448238	0.00451726	0.307466	1	0
FERMT1	55612	broad.mit.edu	37	20	6057946	6057946	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr20:6057946C>T	ENST00000217289.4	-	15	2696	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Silent_p.L379L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	636	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATCTGCACTCAGGCAGGTGA	0.468000											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	45					0	0	0.411799	0	0
PARP12	64761	broad.mit.edu	37	7	139726084	139726084	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr7:139726084C>T	ENST00000263549.3	-	11	2566	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	565	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCGCTGGTGCCGTGGAACAGC	0.562000													21	86					0	0	0.575678	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24243051	24243051	+	Missense_Mutation	SNP	G	G	A	rs146263697		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr13:24243051G>A	ENST00000382263.3	+	9	1244	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.D354N|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.D354N|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.D222N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	354					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TAGCAGTCAAGATTTGGTTGG	0.403000													67	4					0	0	0.870114	0	0
AANAT	15	broad.mit.edu	37	17	74464986	74464986	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:74464986G>A	ENST00000250615.3	+	5	1300	c.293G>A	c.(292-294)cGt>cAt	p.R98H	AANAT_ENST00000392492.3_Missense_Mutation_p.R53H	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	53	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						GAGATCGAGCGTGAAGGTGAG	0.637000													11	67					0	0	0.387290	0	0
LY75	4065	broad.mit.edu	37	2	160672032	160672032	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr2:160672032G>T	ENST00000263636.4	-	31	4460	c.4433C>A	c.(4432-4434)cCa>cAa	p.P1478Q	LY75_ENST00000553424.1_Missense_Mutation_p.P1478Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P1478Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P1478Q|LY75_ENST00000554112.1_Missense_Mutation_p.P1478Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCCTTTCCATGGGATATAGTC	0.378000													21	11					3.62473e-10	3.80083e-10	0.608945	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	59					0	0	0.217242	0	0
CHL1	10752	broad.mit.edu	37	3	432717	432717	+	Missense_Mutation	SNP	A	A	G	rs139238391		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:432717A>G	ENST00000256509.2	+	22	3308	c.2666A>G	c.(2665-2667)cAa>cGa	p.Q889R	CHL1_ENST00000397491.2_Missense_Mutation_p.Q873R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	873	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTCAGGACAAAGAAACTCT	0.373000													33	27					0	0	0.750413	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798753	113798753	+	Splice_Site	SNP	G	G	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:113798753G>T	ENST00000281273.4	+	8	1004	c.747G>T	c.(745-747)agG>agT	p.R249S	QTRTD1_ENST00000485050.1_Splice_Site_p.R261S|QTRTD1_ENST00000479882.1_Splice_Site_p.R126S|QTRTD1_ENST00000493014.1_Splice_Site_p.R143S	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	249					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						ACTTTTACAGGCTCATATCTG	0.388000													57	70					1.12612e-26	1.21023e-26	0.870114	1	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													4	8	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.15_15L>LL	PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	15					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													5	9	---	---	---	---					
PRKCI	5584	broad.mit.edu	37	3	169998127	169998128	+	Frame_Shift_Ins	INS	-	-	A	rs150239950		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr3:169998127_169998128insA	ENST00000295797.4	+	9	1123_1124	c.818_819insA	c.(817-822)ttaaaafs	p.LK273fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	273	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGGTTCGATTAAAAAAAACAG	0.371													16	47	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					7	5	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205300	74205301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr14:74205300_74205301insG	ENST00000286523.5	-	2	2193_2194	c.1411_1412insC	c.(1411-1413)cagfs	p.Q471fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.Q471fs	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CACAGCCTTCTGGGCCAGGGTC	0.649													14	66	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													7	515	---	---	---	---					
KRT19	3880	broad.mit.edu	37	17	39684119	39684120	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A2LA-01A-11D-A18F-08	TCGA-BT-A2LA-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45a7949d-e63f-4956-866c-df51257032de	a2b2e34b-005f-4803-9bc2-5f16b5cc8534	g.chr17:39684119_39684120insT	ENST00000361566.3	-	1	440_441	c.380_381insA	c.(379-381)tacfs	p.Y127fs		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				AGTAGTGGCTGTAGTCGCGGGA	0.693													24	37	---	---	---	---