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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NDUFB2	4708	broad.mit.edu	37	7	140402766	140402766	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:140402766T>A	uc003vwa.3	+	1	263	c.199T>A	c.(199-201)Ttc>Atc	p.F67I	NDUFB2_uc010lnl.3_Non-coding_Transcript|NDUFB2_uc022amu.1_5'Flank	NM_004546	NP_004537	O95178	NDUB2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa (NDUFB2), nuclear gene encoding mitochondrial protein, mRNA.	67					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	ACTCATGTGGTTCTGGATTCT	0.547000														131			66		0	0	0.139131	0	0
ABI3	51225	broad.mit.edu	37	17	47299547	47299547	+	Silent	SNP	T	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:47299547T>C	uc002iop.1	+	6	1395	c.897T>C	c.(895-897)ccT>ccC	p.P299P	ABI3_uc002ioq.1_Silent_p.P293P	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	299	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GATTTGGGCCTGATGAGCCCA	0.622000										HNSCC(55;0.14)				156			4		0	0	0.009096	0	0
ZNF225	7768	broad.mit.edu	37	19	44635911	44635911	+	Silent	SNP	A	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:44635911A>C	uc002oyj.1	+	4	1387	c.1144A>C	c.(1144-1146)Aga>Cga	p.R382R	ZNF225_uc010ejf.1_Silent_p.R382R	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAAGAGCTTCAGATGGGCCTC	0.408000														50			41		0	0	0.092188	0	0
SUFU	51684	broad.mit.edu	37	10	104353417	104353417	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr10:104353417C>A	uc001kvy.2	+	4	813	c.622C>A	c.(622-624)Cta>Ata	p.L208I	SUFU_uc001kvw.2_Missense_Mutation_p.L208I|SUFU_uc001kvx.3_Missense_Mutation_p.L208I	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	208					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CACTGAAGAGCTACACTCAGC	0.607000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					27			29		3.86903e-22	4.79232e-22	0.054565	1	0
FMO4	2329	broad.mit.edu	37	1	171303684	171303684	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:171303684T>C	uc001gho.3	+	7	1179	c.962T>C	c.(961-963)aTt>aCt	p.I321T		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	321					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGAAAACATTGATGTTGTG	0.368000														44			28		0	0	0.116897	0	0
NFATC3	4775	broad.mit.edu	37	16	68224719	68224719	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:68224719C>A	uc002evo.2	+	8	2463	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q	NFATC3_uc010vkl.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkm.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkn.2_Missense_Mutation_p.P237Q|NFATC3_uc010vko.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkp.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkq.2_Missense_Mutation_p.P237Q|NFATC3_uc002evl.3_Missense_Mutation_p.P237Q|NFATC3_uc002evk.3_Missense_Mutation_p.P716Q|NFATC3_uc002evm.2_Missense_Mutation_p.P716Q|NFATC3_uc002evn.2_Missense_Mutation_p.P716Q|NFATC3_uc010vkr.2_Missense_Mutation_p.P237Q|NFATC3_uc010vks.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkt.2_Missense_Mutation_p.P237Q|NFATC3_uc010vku.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkv.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkw.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkx.2_Missense_Mutation_p.P237Q|NFATC3_uc010vky.2_Missense_Mutation_p.P237Q|NFATC3_uc010vkz.2_Missense_Mutation_p.P237Q|NFATC3_uc010vla.2_Missense_Mutation_p.P237Q|NFATC3_uc010vlb.2_Missense_Mutation_p.P237Q|NFATC3_uc010vlc.2_Missense_Mutation_p.P237Q	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	716					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTTCAGTTCCATCTTTGCCT	0.383000														60			78		2.09793e-52	2.72231e-52	0.139131	1	0
VPS13A	23230	broad.mit.edu	37	9	79955424	79955424	+	Silent	SNP	T	A	A	rs144477984	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr9:79955424T>A	uc004akr.3	+	49	7244	c.6984T>A	c.(6982-6984)gcT>gcA	p.A2328A	VPS13A_uc004akp.4_Silent_p.A2328A|VPS13A_uc004akq.4_Silent_p.A2328A|VPS13A_uc004aks.3_Silent_p.A2289A	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2328					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCAGTGGCTGAAGAAGGAA	0.333000														42			36		0	0	0.080422	0	0
KIAA1432	57589	broad.mit.edu	37	9	5765734	5765734	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr9:5765734G>T	uc003zjl.4	+	19	3153	c.2962G>T	c.(2962-2964)Gtt>Ttt	p.V988F	KIAA1432_uc003zjh.3_Missense_Mutation_p.V946F|KIAA1432_uc003zji.3_Missense_Mutation_p.V946F|KIAA1432_uc003zjj.1_Missense_Mutation_p.V488F	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1025						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGCTGAAAATGTTCCTGCCAG	0.408000														139			11		1.58986e-06	1.73295e-06	0.069234	1	0
BAP1	8314	broad.mit.edu	37	3	52441190	52441190	+	Splice_Site	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:52441190C>T	uc003ddx.3	-	7	695	c.580_splice	c.e7+1	p.G194_splice	BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	194					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGGTGCCTACCATGGTCAATG	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								13			30		0	0	0.134883	0	0
CEP350	9857	broad.mit.edu	37	1	180063597	180063597	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:180063597A>T	uc001gnt.3	+	33	8740	c.8357A>T	c.(8356-8358)cAg>cTg	p.Q2786L	CEP350_uc009wxl.2_Missense_Mutation_p.Q2785L|CEP350_uc001gnv.3_Missense_Mutation_p.Q921L|CEP350_uc001gnw.1_Missense_Mutation_p.Q543L|CEP350_uc001gnx.1_Missense_Mutation_p.Q543L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2786						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTTAGCAATCAGGAGCTTCTT	0.388000														26			15		0	0	0.119110	0	0
LOC389765	389765	broad.mit.edu	37	9	88431070	88431070	+	RNA	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr9:88431070T>G	uc004aog.2	+	1		c.409T>G								Homo sapiens kinesin family member 27 pseudogene (LOC389765), non-coding RNA.																		TTATAACACATGTATAAAGCC	0.403000														34			7		0	0	0.029380	0	0
MFSD11	79157	broad.mit.edu	37	17	74772621	74772621	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:74772621C>T	uc002jta.2	+	12	2156	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	MFSD11_uc002jtd.4_Nonsense_Mutation_p.Q395*|MFSD11_uc002jtb.3_Nonsense_Mutation_p.Q395*|MFSD11_uc002jtc.3_Nonsense_Mutation_p.Q395*|MFSD11_uc002jte.3_Nonsense_Mutation_p.Q395*|MFSD11_uc010dhb.3_Nonsense_Mutation_p.Q343*|MFSD11_uc010dha.3_Nonsense_Mutation_p.Q343*	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	395						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAAGTTTGTTCAGGTAACCTC	0.423000														97			92		0	0	0.139131	0	0
ARRB1	408	broad.mit.edu	37	11	74979954	74979954	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:74979954C>T	uc001owe.2	-	13	1296	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ARRB1_uc001owf.2_Missense_Mutation_p.E350K	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	358	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GGGGGTTCCTCTTTGGGCTTG	0.622000														55			27		0	0	0.144211	0	0
MUSK	4593	broad.mit.edu	37	9	113530177	113530177	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr9:113530177C>G	uc022blv.1	+	8	1132	c.998C>G	c.(997-999)gCt>gGt	p.A333G	MUSK_uc022blt.1_Missense_Mutation_p.L331V|MUSK_uc004bez.2_Intron|MUSK_uc022blu.1_Intron	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	333	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCAAAAGATGCTCTTGTTTTT	0.493000														126			3		0	0	0.115264	0	0
ZNF395	55893	broad.mit.edu	37	8	28209093	28209093	+	Silent	SNP	C	A	A	rs145491469	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:28209093C>A	uc003xgq.3	-	6	1240	c.1152G>T	c.(1150-1152)ccG>ccT	p.P384P	ZNF395_uc003xgt.3_Silent_p.P384P|ZNF395_uc003xgr.3_Silent_p.P384P|ZNF395_uc003xgs.3_Silent_p.P384P	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	384					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGGACTCCGGGCCAGGAT	0.642000														100			53		6.3008e-33	8.07985e-33	0.139131	1	0
NPRL2	10641	broad.mit.edu	37	3	50386372	50386372	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:50386372T>A	uc003daj.1	-	4	921	c.518A>T	c.(517-519)gAt>gTt	p.D173V	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	173					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GACAGGTACATCATACTCCTG	0.537000														33			89		0	0	0.139131	0	0
NXF3	56000	broad.mit.edu	37	X	102332664	102332664	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:102332664C>T	uc004eju.3	-	17	1533	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	NXF3_uc010noi.1_Missense_Mutation_p.R334H	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	488	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGTCATTCACGATGCACAGA	0.557000														121			5		0	0	0.014758	0	0
LEPROT	54741	broad.mit.edu	37	1	65895651	65895651	+	Silent	SNP	C	A	A	rs147651845	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:65895651C>A	uc009wap.3	+	3	608	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	LEPR_uc001dcg.3_Intron|LEPR_uc001dch.3_Intron|LEPR_uc009waq.3_Intron|LEPR_uc001dci.3_Intron|LEPROT_uc001dcf.3_Silent_p.R67R	NM_001198681	NP_001185610	O15243	OBRG_HUMAN	Homo sapiens leptin receptor overlapping transcript (LEPROT), transcript variant 2, mRNA.	67						Golgi membrane|endosome membrane|integral to plasma membrane		p.G76*(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAGTGCCTGTCGGGAACTGGC	0.453000														161			14		0.000151284	0.000163267	0.105934	1	0
DCAF4	26094	broad.mit.edu	37	14	73412735	73412735	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr14:73412735G>A	uc001xng.3	+	7	898	c.678_splice	c.e7+1	p.K226_splice	DCAF4_uc010ttr.2_Splice_Site_p.K204_splice|DCAF4_uc001xnj.3_Splice_Site_p.K226_splice|DCAF4_uc001xnh.3_Splice_Site_p.K126_splice|DCAF4_uc010tts.2_Splice_Site_p.K165_splice|DCAF4_uc010ttt.2_Splice_Site_p.K11_splice|DCAF4_uc001xni.3_Splice_Site_p.K165_splice|DCAF4_uc001xnk.3_Splice_Site_p.K226_splice	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	226						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCAACCGGAAGGTACGTTGCC	0.527000														76			45		0	0	0.139131	0	0
ADAM17	6868	broad.mit.edu	37	2	9630624	9630624	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:9630624C>T	uc002qzu.3	-	18	2340	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	IAH1_uc010yiz.2_Intron|ADAM17_uc010ewy.3_Missense_Mutation_p.M702I|ADAM17_uc010ewz.3_Missense_Mutation_p.M62I	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	719					B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATGCAGAATCCATGCTGCTCA	0.537000														35			10		0	0	0.069234	0	0
KDM5A	5927	broad.mit.edu	37	12	404935	404935	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:404935G>C	uc001qif.1	-	25	4622	c.4259C>G	c.(4258-4260)cCt>cGt	p.P1420R	KDM5A_uc021qsr.1_5'UTR	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1420					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTCTTCCGAGGTTGTTTCCT	0.408000			T	NUP98	AML									79			48		0	0	0.131918	0	0
TLL2	7093	broad.mit.edu	37	10	98136535	98136535	+	Missense_Mutation	SNP	C	A	A	rs150738442		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr10:98136535C>A	uc001kml.2	-	17	2603	c.2362G>T	c.(2362-2364)Gcg>Tcg	p.A788S		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	788	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A788A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTGGGGCTCGCCAGGGTCCCC	0.567000														60			30		7.01153e-11	7.96101e-11	0.125774	1	0
RNF111	54778	broad.mit.edu	37	15	59373369	59373369	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr15:59373369A>C	uc002afv.3	+	7	2462	c.2183A>C	c.(2182-2184)cAc>cCc	p.H728P	RNF111_uc002afs.3_Missense_Mutation_p.H728P|RNF111_uc002aft.3_Missense_Mutation_p.H728P|RNF111_uc002afu.3_Missense_Mutation_p.H727P|RNF111_uc002afw.3_Missense_Mutation_p.H728P|RNF111_uc002afx.3_Missense_Mutation_p.H254P	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	728	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCTCCTACACACCAGCCAATT	0.512000														89			9		0	0	0.146539	0	0
ZFP14	57677	broad.mit.edu	37	19	36831787	36831787	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:36831787C>T	uc010xtd.2	-	3	1023	c.944G>A	c.(943-945)tGt>tAt	p.C315Y	ZFP14_uc010eex.2_Missense_Mutation_p.C314Y	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K315E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACATTCCTTACATTCATAGAG	0.418000														53			34		0	0	0.045705	0	0
SPAG17	200162	broad.mit.edu	37	1	118535132	118535132	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:118535132A>T	uc001ehk.2	-	35	5386	c.5318T>A	c.(5317-5319)gTc>gAc	p.V1773D	SPAG17_uc021osr.1_Missense_Mutation_p.V283D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1773						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTCTTTATGACCTCATGCTG	0.473000														65			22		0	0	0.062417	0	0
CASP5	838	broad.mit.edu	37	11	104879534	104879534	+	Splice_Site	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:104879534T>G	uc010ruz.1	-	2	252	c.220_splice	c.e2+1	p.K74_splice	CASP5_uc010rva.1_Splice_Site_p.K61_splice|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	61	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCAGTCTTACTTTTTACACTG	0.388000														33			20		0	0	0.055883	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														17			7		0	0	0.146539	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378652	101378652	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:101378652G>C	uc003dve.4	-	5	2251	c.2021C>G	c.(2020-2022)aCa>aGa	p.T674R		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTTACACCTGTGTGCTTTAA	0.373000														47			31		0	0	0.050027	0	0
OTP	23440	broad.mit.edu	37	5	76932809	76932809	+	Missense_Mutation	SNP	G	C	C	rs148662448	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:76932809G>C	uc003kfg.3	-	1	432	c.284C>G	c.(283-285)gCc>gGc	p.A95G		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CTGCTGGCCGGCTTGGCTGGG	0.677000														85			44		0	0	0.124865	0	0
SLC9A7	84679	broad.mit.edu	37	X	46491075	46491075	+	Silent	SNP	A	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:46491075A>T	uc004dgu.1	-	13	1691	c.1683T>A	c.(1681-1683)gtT>gtA	p.V561V		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	561					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATCGGGGTCAACACCAACTC	0.498000														27			15		0	0	0.146539	0	0
AEBP2	121536	broad.mit.edu	37	12	19615463	19615463	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:19615463G>C	uc001ref.2	+	1	717	c.691G>C	c.(691-693)Gat>Cat	p.D231H	AEBP2_uc001ree.2_Missense_Mutation_p.D231H|AEBP2_uc001reg.1_Missense_Mutation_p.D2H	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	231	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TACTATAATGGATGTAGACAG	0.328000														16			11		0	0	0.093190	0	0
SLC12A4	6560	broad.mit.edu	37	16	67981315	67981315	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:67981315C>G	uc010vkj.1	-	14	2037	c.1997G>C	c.(1996-1998)gGg>gCg	p.G666A	SLC12A4_uc010ceu.2_Missense_Mutation_p.G658A|SLC12A4_uc010vkh.1_Missense_Mutation_p.G633A|SLC12A4_uc002euz.2_Missense_Mutation_p.G664A|SLC12A4_uc010vki.1_Missense_Mutation_p.G664A|SLC12A4_uc002eva.2_Missense_Mutation_p.G664A|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	664					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTCGGATCCCGTCACCCCA	0.672000														21			7		0	0	0.029380	0	0
CDC20B	166979	broad.mit.edu	37	5	54429246	54429246	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:54429246C>A	uc003jpo.2	-	5	868	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	CDC20B_uc003jpn.2_Missense_Mutation_p.D231Y|CDC20B_uc010ivu.2_Missense_Mutation_p.D231Y|CDC20B_uc010ivv.2_Missense_Mutation_p.D231Y	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	231										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTACAGTAGTCATTTCGAAGA	0.353000														57			36		3.11337e-16	3.77064e-16	0.054565	1	0
SGK223	157285	broad.mit.edu	37	8	8234118	8234118	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:8234118C>A	uc003wsh.4	-	1	1801	c.1801G>T	c.(1801-1803)Ggt>Tgt	p.G601C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	601							ATP binding|non-membrane spanning protein tyrosine kinase activity										ATAGCGACACCGTTGGTCCGG	0.662000														53			20		3.51602e-12	4.07708e-12	0.049695	1	0
KCNA2	3737	broad.mit.edu	37	1	111146524	111146524	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:111146524C>A	uc021oro.1	-	0	881	c.881G>T	c.(880-882)cGt>cTt	p.R294L	KCNA2_uc009wfv.2_Missense_Mutation_p.R294L|KCNA2_uc009wfw.3_Missense_Mutation_p.R294L	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	294						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCGGATGACACGGAGGATGGC	0.537000														52			28		5.60225e-13	6.56608e-13	0.144211	1	0
FAM49A	81553	broad.mit.edu	37	2	16736394	16736394	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:16736394A>T	uc010exm.2	-	9	999	c.851T>A	c.(850-852)aTa>aAa	p.I284K	FAM49A_uc002rck.2_Missense_Mutation_p.I284K	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	284						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAAACTTTTATGCAGCCTTT	0.458000														23			7		0	0	0.029380	0	0
MRPL54	116541	broad.mit.edu	37	19	3765208	3765208	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:3765208G>A	uc002lyq.4	+	1	197	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.	55						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCAGCGAGGCCCTCAAGGA	0.572000														21			21		0	0	0.069288	0	0
POLR2L	5441	broad.mit.edu	37	11	840428	840428	+	Silent	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:840428G>A	uc001lsc.3	-	1	169	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	TSPAN4_uc001lsd.1_5'Flank|TSPAN4_uc001lse.1_5'Flank|TSPAN4_uc001lsf.1_5'Flank|TSPAN4_uc001lsg.1_5'Flank|TSPAN4_uc001lsh.1_5'Flank	NM_021128	NP_066951	P62875	RPAB5_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa (POLR2L), mRNA.	50					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III 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			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTGGGCCAGCAGCATCCGG	0.637000														103			42		0	0	0.124865	0	0
GAB2	9846	broad.mit.edu	37	11	77934564	77934564	+	Silent	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:77934564G>A	uc001ozh.3	-	5	1563	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	GAB2_uc001ozg.3_Silent_p.D449D	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	487					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCCAAGTGAGTCAAAGTGAT	0.557000														136			66		0	0	0.139131	0	0
CDK10	8558	broad.mit.edu	37	16	89756963	89756963	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:89756963C>T	uc010cio.3	+	2	206	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	CDK10_uc002foa.2_Missense_Mutation_p.R49W|CDK10_uc010cip.2_5'UTR|CDK10_uc010vpl.1_Missense_Mutation_p.R49W|CDK10_uc002fob.2_5'UTR|CDK10_uc002fod.3_5'UTR|CDK10_uc002foe.3_5'UTR|CDK10_uc002fof.3_5'UTR|CDK10_uc002fog.4_5'UTR|CDK10_uc002foh.4_5'UTR	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	55	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CATTCCAGATCGGGCCCGGGA	0.592000														100			24		0	0	0.083992	0	0
NF2	4771	broad.mit.edu	37	22	30038223	30038223	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr22:30038223C>A	uc003age.4	+	3	839	c.396C>A	c.(394-396)taC>taA	p.Y132*	NF2_uc003afy.4_Nonsense_Mutation_p.Y132*|NF2_uc003afz.4_Nonsense_Mutation_p.Y49*|NF2_uc003agf.4_Nonsense_Mutation_p.Y132*|NF2_uc003agb.4_Nonsense_Mutation_p.Y55*|NF2_uc003agc.4_Nonsense_Mutation_p.Y94*|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Nonsense_Mutation_p.Y132*|NF2_uc003aga.4_Nonsense_Mutation_p.Y90*|NF2_uc003agh.4_Nonsense_Mutation_p.Y91*|NF2_uc003agi.4_Nonsense_Mutation_p.Y49*|NF2_uc003agj.4_Nonsense_Mutation_p.Y132*	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	132	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(3)|p.L127_P134del(2)|p.K123fs*2(1)|p.V110_L141del(1)|p.Y132fs*42(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAAAGATCTACTGCCCTCCTG	0.468000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					13			30		1.45844e-13	1.72793e-13	0.054565	1	0
EEF2K	29904	broad.mit.edu	37	16	22237117	22237117	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:22237117C>T	uc002dki.3	+	1	552	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	23			H -> R (in dbSNP:rs9935059).		insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCGAGCTGGCCATGATGGTGA	0.557000														61			17		0	0	0.033300	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	C	C	rs75392608		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:39262083A>C	uc010wfp.2	+	0	443	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgccagcccaactgctgccgc	0.667000														31			3		0	0	0.069234	0	0
PPAT	5471	broad.mit.edu	37	4	57262889	57262889	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr4:57262889G>A	uc003hbr.3	-	9	1412	c.1253C>T	c.(1252-1254)gCt>gTt	p.A418V		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	418					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGGTGGTGAAGCTACTCGAAT	0.338000														38			22		0	0	0.083992	0	0
RAPH1	65059	broad.mit.edu	37	2	204305855	204305855	+	Silent	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:204305855C>T	uc002vad.3	-	13	2283	c.2058G>A	c.(2056-2058)ccG>ccA	p.P686P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	686					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGTGTTGGCGGCTTAAACA	0.577000														74			4		0	0	0.014758	0	0
CYBRD1	79901	broad.mit.edu	37	2	172379114	172379114	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:172379114G>A	uc002ugy.4	+	0	249	c.59G>A	c.(58-60)gGc>gAc	p.G20D	CYBRD1_uc002ugz.4_Missense_Mutation_p.G20D	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	20	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CTGCTCGTCGGCTTCCTGTCG	0.652000														32			4		0	0	0.009096	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000														32			3		0	0	0.115264	0	0
ACAP1	9744	broad.mit.edu	37	17	7250507	7250507	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:7250507G>A	uc002ggd.2	+	13	1495	c.1289G>A	c.(1288-1290)tGg>tAg	p.W430*		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	430	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCCCCGGAGTGGGCCAGCATC	0.657000														63			31		0	0	0.064281	0	0
SETD2	29072	broad.mit.edu	37	3	47061276	47061276	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:47061276T>A	uc003cqv.3	-	19	7692	c.7606A>T	c.(7606-7608)Aaa>Taa	p.K2536*	SETD2_uc003cqs.3_Nonsense_Mutation_p.K2469*|SETD2_uc003cqr.3_Nonsense_Mutation_p.K68*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2469	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTTTGCTTTTCTTTGCTAGT	0.428000			"""N, F, S, Mis"""		clear cell renal carcinoma									9			56		0	0	0.139131	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711597	162711597	+	Silent	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:162711597T>G	uc002ubx.4	+	4	718	c.534T>G	c.(532-534)acT>acG	p.T178T	SLC4A10_uc010fpa.1_Silent_p.T190T|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.T189T|SLC4A10_uc002uby.4_Silent_p.T178T	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	178					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAATGGAACTGTGTTGCTGG	0.393000														38			26		0	0	0.116897	0	0
CDK13	8621	broad.mit.edu	37	7	40134552	40134552	+	Silent	SNP	A	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:40134552A>G	uc003thh.4	+	13	4794	c.4512A>G	c.(4510-4512)agA>agG	p.R1504R	CDK13_uc003thi.4_Silent_p.R1444R|CDK13_uc003thj.3_Silent_p.R555R|CDK13_uc003thk.3_Silent_p.R437R	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1504					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CAACTGGCAGAGGCAGAGGCA	0.483000														140			3		0	0	0.115264	0	0
CHMP1A	5119	broad.mit.edu	37	16	89715819	89715819	+	Silent	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:89715819C>T	uc002fnu.3	-	3	325	c.192G>A	c.(190-192)cgG>cgA	p.R64R	CHMP1A_uc002fnt.3_5'Flank|CHMP1A_uc002fnv.3_Missense_Mutation_p.D58N	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA.	64					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGACGCCATCCGAAGCCAGT	0.602000														123			53		0	0	0.139131	0	0
IL1R2	7850	broad.mit.edu	37	2	102626224	102626224	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:102626224G>T	uc002tbm.3	+	2	497	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	IL1R2_uc002tbn.3_Missense_Mutation_p.D90Y|IL1R2_uc002tbo.1_Missense_Mutation_p.D90Y	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	90	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GTGGGCCCAGGACGGTGCTCT	0.597000														159			72		5.21738e-30	6.61273e-30	0.139131	1	0
ATAD5	79915	broad.mit.edu	37	17	29162059	29162059	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:29162059G>C	uc002hfs.1	+	1	1303	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ATAD5_uc002hft.1_Missense_Mutation_p.K217N	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	320					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACGCTTTAAGACAGTTACTG	0.378000														33			22		0	0	0.055883	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903761	54903761	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:54903761T>G	uc001sgc.4	+	6	806	c.727T>G	c.(727-729)Tca>Gca	p.S243A	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.S193A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	243					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCTGCTAATTCAGATACAGT	0.488000														75			47		0	0	0.139131	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894410	15894410	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:15894410G>A	uc001aws.3	+	14	2207	c.2087G>A	c.(2086-2088)gGt>gAt	p.G696D	DNAJC16_uc001awt.3_Missense_Mutation_p.G384D|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	696					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.G696C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GACTACACTGGTTATGTACTG	0.443000														84			24		0	0	0.069288	0	0
PLEC	5339	broad.mit.edu	37	8	144998457	144998457	+	Silent	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:144998457C>T	uc003zaf.1	-	30	6221	c.6051G>A	c.(6049-6051)ctG>ctA	p.L2017L	PLEC_uc003zab.1_Silent_p.L1880L|PLEC_uc003zac.1_Silent_p.L1884L|PLEC_uc003zad.2_Silent_p.L1880L|PLEC_uc003zae.1_Silent_p.L1848L|PLEC_uc003zag.1_Silent_p.L1858L|PLEC_uc003zah.2_Silent_p.L1866L|PLEC_uc003zaj.2_Silent_p.L1907L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2017	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						CCTGCTCCTCCAGCCGCCGCC	0.706000														7			6		0	0	0.029380	0	0
KCTD8	386617	broad.mit.edu	37	4	44450342	44450342	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr4:44450342C>T	uc003gwu.3	-	0	483	c.199G>A	c.(199-201)Gac>Aac	p.D67N		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	67	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AAAGTACTGTCCGGGACGCTG	0.682000										HNSCC(17;0.042)				18			13		0	0	0.105934	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:39262103A>T	uc010wfp.2	+	0	463	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000														23			3		0	0	0.058154	0	0
RRN3	54700	broad.mit.edu	37	16	15168670	15168670	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:15168670G>T	uc002dde.3	-	10	975	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.L171I|RRN3_uc010uzq.2_Missense_Mutation_p.L273I	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	303					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATCTGGTCGAGCCGTTCAGGA	0.413000														65			8		1.33987e-11	1.53732e-11	0.069234	1	0
SLC4A10	57282	broad.mit.edu	37	2	162711596	162711596	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:162711596C>A	uc002ubx.4	+	4	717	c.533C>A	c.(532-534)aCt>aAt	p.T178N	SLC4A10_uc010fpa.1_Missense_Mutation_p.T190N|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.T189N|SLC4A10_uc002uby.4_Missense_Mutation_p.T178N	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	178					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGAATGGAACTGTGTTGCTG	0.393000														40			26		1.2476e-16	1.52796e-16	0.116897	1	0
ITGB2	3689	broad.mit.edu	37	21	46306670	46306670	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr21:46306670A>C	uc002zgd.2	-	13	2272	c.2228T>G	c.(2227-2229)cTc>cGc	p.L743R	ITGB2_uc002zgf.3_Missense_Mutation_p.L743R|ITGB2_uc011afl.1_Missense_Mutation_p.L665R|ITGB2_uc010gpw.2_Missense_Mutation_p.L686R|ITGB2_uc002zgg.2_Missense_Mutation_p.L743R	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	743					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTGGGACTTGAGCTTCTCCTT	0.617000														35			6		0	0	0.021553	0	0
FOXP2	93986	broad.mit.edu	37	7	114299729	114299729	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:114299729G>A	uc003vhb.3	+	13	2021	c.1647_splice	c.e13+1	p.K549_splice	FOXP2_uc003vgu.3_Splice_Site|FOXP2_uc003vgz.3_Splice_Site_p.K574_splice|FOXP2_uc003vha.3_Splice_Site_p.K457_splice|FOXP2_uc011kmv.2_Splice_Site_p.K548_splice|FOXP2_uc011kmu.2_Splice_Site_p.K566_splice|FOXP2_uc010ljz.2_Splice_Site_p.K364_splice|FOXP2_uc003vhe.1_Splice_Site_p.K119_splice	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	549					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AACTTGGAAGGTAACTACTTT	0.388000														29			19		0	0	0.049695	0	0
ANKLE1	126549	broad.mit.edu	37	19	17396342	17396342	+	Silent	SNP	C	T	T	rs111432888		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:17396342C>T	uc010xpn.1	+	6	1677	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.A493A|ANKLE1_uc010eao.1_Silent_p.A489A|ANKLE1_uc002nfy.2_Silent_p.A456A|ANKLE1_uc002nfz.2_Silent_p.A199A			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	493						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGACGAGGGCCCGGCCATATG	0.617000														102			48		0	0	0.124865	0	0
CX3CL1	6376	broad.mit.edu	37	16	57413588	57413588	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:57413588A>G	uc002eli.3	+	1	180	c.113A>G	c.(112-114)aAg>aGg	p.K38R		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	38	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACGTGCAGCAAGATGACATCA	0.522000														61			15		0	0	0.146539	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896244	151896244	+	RNA	SNP	A	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:151896244A>C	uc004fgb.3	-	3		c.535T>G						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGGCCCACTCCATTCCT	0.522000														64			13		0	0	0.132662	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890704	15890704	+	RNA	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:15890704C>A	uc002nbo.3	-	0		c.95G>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CCAGCCAGGACAGGCTCAGCT	0.672000														12			4		1.024e-07	1.12743e-07	0.014758	1	0
PFKM	5213	broad.mit.edu	37	12	48538849	48538849	+	Silent	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:48538849C>A	uc001rrb.2	+	22	2515	c.2241C>A	c.(2239-2241)gcC>gcA	p.A747A	PFKM_uc001rra.2_Silent_p.A361A|PFKM_uc001rrc.3_Silent_p.A676A|PFKM_uc001rrd.3_Silent_p.A361A|PFKM_uc001rre.2_Silent_p.A676A|PFKM_uc021qxj.1_Silent_p.A676A|PFKM_uc001rrg.2_Silent_p.A645A	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	676					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGAATTTTGCCACTAAGATGG	0.473000														61			32		1.26612e-14	1.51656e-14	0.059317	1	0
STAC	6769	broad.mit.edu	37	3	36587768	36587768	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:36587768T>G	uc003cgh.1	+	10	1235	c.1196T>G	c.(1195-1197)cTa>cGa	p.L399R	STAC_uc011aya.1_Missense_Mutation_p.L338R	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	399					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTTGATGTACTAGAAAACATC	0.493000														14			47		0	0	0.139131	0	0
TTC7A	57217	broad.mit.edu	37	2	47300864	47300864	+	Silent	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:47300864C>T	uc010fbb.3	+	20	2819	c.2451C>T	c.(2449-2451)ggC>ggT	p.G817G	TTC7A_uc002rvm.3_Silent_p.G759G|TTC7A_uc002rvo.3_Silent_p.G793G|TTC7A_uc010fbc.3_Silent_p.G439G|TTC7A_uc002rvp.3_Silent_p.G674G|C2orf61_uc010fbd.3_Intron|TTC7A_uc002rvq.3_Silent_p.G533G|TTC7A_uc002rvr.3_Silent_p.G242G	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	793							binding	p.Q817H(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTCGGCTGGGCCACAAGAGCT	0.652000														32			20		0	0	0.055883	0	0
HUWE1	10075	broad.mit.edu	37	X	53564649	53564649	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:53564649C>T	uc004dsp.3	-	77	12407	c.12005G>A	c.(12004-12006)cGc>cAc	p.R4002H	HUWE1_uc004dsn.3_Missense_Mutation_p.R2810H|HUWE1_uc004dsq.1_Missense_Mutation_p.R302H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4002					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCTCTTGGCGGAAATATCT	0.473000														30			3		0	0	0.115264	0	0
ZNF547	284306	broad.mit.edu	37	19	57888699	57888699	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:57888699G>A	uc002qol.3	+	3	560	c.355G>A	c.(355-357)Gca>Aca	p.A119T		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACGTGTCCAGCACATCTTCA	0.517000														57			23		0	0	0.083992	0	0
NINL	22981	broad.mit.edu	37	20	25457543	25457543	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr20:25457543C>T	uc002wux.1	-	16	2458	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	795					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CATCTGGGCGCGCTTCTCGCT	0.692000														21			4		0	0	0.009096	0	0
SYT4	6860	broad.mit.edu	37	18	40853823	40853823	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr18:40853823C>T	uc002law.3	-	1	940	c.571G>A	c.(571-573)Gac>Aac	p.D191N	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.D173N	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	191	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATATATGGGTCAGAGGTCATC	0.438000														55			38		0	0	0.104719	0	0
GDE1	51573	broad.mit.edu	37	16	19516303	19516303	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:19516303A>C	uc002dgh.3	-	4	912	c.748T>G	c.(748-750)Ttt>Gtt	p.F250V	GDE1_uc002dgi.3_Missense_Mutation_p.F140V	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	250	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						ATCATAACAAATATAAAATGT	0.403000														105			44		0	0	0.131918	0	0
OR2M3	127062	broad.mit.edu	37	1	248367073	248367073	+	Missense_Mutation	SNP	G	A	A	rs138010167		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:248367073G>A	uc010pzg.2	+	0	704	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235H(4)|p.R235C(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGGGTCGTCGCAAAGCTTTT	0.468000														232			5		0	0	0.014758	0	0
SAAL1	113174	broad.mit.edu	37	11	18101957	18101957	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:18101957C>G	uc001mnq.3	-	11	1464	c.1414G>C	c.(1414-1416)Gtt>Ctt	p.V472L	SAAL1_uc001mnr.3_Missense_Mutation_p.V471L	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	472					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TAAGTCTGAACCTTCAAACTT	0.318000														44			15		0	0	0.132662	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348539	30348539	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:30348539G>T	uc002hgu.3	+	0	385	c.374G>T	c.(373-375)cGg>cTg	p.R125L	LRRC37B_uc010wbx.2_Missense_Mutation_p.R43L|LRRC37B_uc010csu.3_Missense_Mutation_p.R125L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	125						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AATGACAAGCGGACTCCAGAA	0.537000														95			46		3.54561e-26	4.4422e-26	0.111260	1	0
BAI2	576	broad.mit.edu	37	1	32203282	32203282	+	Silent	SNP	G	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:32203282G>A	uc001btn.3	-	18	3201	c.2847C>T	c.(2845-2847)acC>acT	p.T949T	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Silent_p.T591T|BAI2_uc010ogp.2_Silent_p.T882T|BAI2_uc010ogq.2_Silent_p.T949T|BAI2_uc001bto.3_Silent_p.T949T|BAI2_uc001btp.1_5'Flank	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	949					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGCGAGCAGGGTGAGCAGCG	0.667000														28			16		0	0	0.033300	0	0
AFF4	27125	broad.mit.edu	37	5	132270292	132270292	+	Silent	SNP	T	G	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:132270292T>G	uc003kyd.3	-	2	873	c.465A>C	c.(463-465)tcA>tcC	p.S155S	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Silent_p.S155S|AFF4_uc003kyf.4_Silent_p.S155S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	155	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATTGTTATATGACTCACGGT	0.522000														75			53		0	0	0.139131	0	0
RFC5	5985	broad.mit.edu	37	12	118462710	118462710	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:118462710C>A	uc001twq.3	+	5	603	c.476C>A	c.(475-477)tCa>tAa	p.S159*	RFC5_uc010syx.2_Nonsense_Mutation_p.S138*|RFC5_uc010syz.2_Nonsense_Mutation_p.S74*|RFC5_uc009zwr.3_Nonsense_Mutation_p.S159*	NM_007370	NP_001123584	P40937	RFC5_HUMAN	Homo sapiens replication factor C (activator 1) 5, 36.5kDa (RFC5), transcript variant 1, mRNA.	159					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTATCTGTCAAAGATCATC	0.458000														52			4		0.00909568	0.00953297	0.009096	1	0
ABCA4	24	broad.mit.edu	37	1	94502837	94502837	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:94502837C>A	uc001dqh.3	-	24	3781	c.3677G>T	c.(3676-3678)gGt>gTt	p.G1226V		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1226					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGTTCTTGACCAATGCACTC	0.478000														56			13		1.61879e-10	1.81905e-10	0.093190	1	0
RERE	473	broad.mit.edu	37	1	8425998	8425998	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:8425998delT	uc001ape.3	-	13	2131	c.1321delA	c.(1321-1323)accfs	p.T441fs	RERE_uc001apf.3_Frame_Shift_Del_p.T441fs|RERE_uc010nzx.1_Frame_Shift_Del_p.T173fs|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	441	SANT.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCTTCGGGGGTCTTCTTCCAA	0.622													---	29	---	---	9	---					
DNAJC16	23341	broad.mit.edu	37	1	15894493	15894493	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:15894493delG	uc001aws.3	+	14	2290	c.2170delG	c.(2170-2172)gggfs	p.G724fs	DNAJC16_uc001awt.3_Frame_Shift_Del_p.G412fs|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	724					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAAGCCATAGGGTCGTGCAG	0.512													---	59	---	---	17	---					
TMEM144	55314	broad.mit.edu	37	4	159138552	159138552	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr4:159138552delA	uc003ipx.3	+	4	832	c.312delA	c.(310-312)ttafs	p.L104fs	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	104						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TTAATGCCTTAACTGGCTGGG	0.378													---	37	---	---	26	---					
SEPT7	989	broad.mit.edu	37	7	35930341	35930341	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:35930341delA	uc010kxc.3	+	9	1154	c.930delA	c.(928-930)agafs	p.R310fs	SEPT7_uc011kat.2_Frame_Shift_Del_p.R310fs|SEPT7_uc011kau.2_Frame_Shift_Del_p.R276fs|SEPT7_uc011kav.2_Frame_Shift_Del_p.R259fs	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	312					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ACAGAAGCAGAAAACTTGCAG	0.333													---	16	---	---	15	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													---	9	---	---	4	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	-	-	rs3018444	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:103572984_103572992delTGCAGCCCC	uc003ykt.2	+	1	733_741	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.P217P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													---	59	---	---	7	---					
OR51A4	401666	broad.mit.edu	37	11	4967850	4967856	+	Frame_Shift_Del	DEL	AGGGAAG	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:4967850_4967856delAGGGAAG	uc010qys.2	-	0	475_481	c.475_481delCTTCCCT	c.(475-483)cttcccttcfs	p.L159fs		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGAAAGGGAAGGGAAGAACCAGGAGC	0.440													---	296	---	---	46	---					
OR51A2	401667	broad.mit.edu	37	11	4976463	4976469	+	Frame_Shift_Del	DEL	AGGGAAG	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:4976463_4976469delAGGGAAG	uc010qyt.2	-	0	475_481	c.475_481delCTTCCCT	c.(475-483)cttcccttcfs	p.L159fs		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGAAAGGGAAGGGAAGAACCAGGAGC	0.440													---	114	---	---	27	---					
KRT18P55	284085	broad.mit.edu	37	17	26604362	26604363	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:26604362_26604363insA	uc002has.3	-	2	599_600	c.112_113insT	c.(112-114)catfs	p.H38fs						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		GTGAAGTTCATGCTGTCCGGGG	0.510													---	41	---	---	35	---					
ZNF30	90075	broad.mit.edu	37	19	35434608	35434608	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:35434608delG	uc010edq.1	+	4	1119	c.741delG	c.(739-741)aagfs	p.K247fs	ZNF30_uc002nxf.2_Frame_Shift_Del_p.K165fs|ZNF30_uc010edp.1_Frame_Shift_Del_p.K246fs|ZNF30_uc010edr.1_Frame_Shift_Del_p.K247fs	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TATATGGAAAGCTTACCCGGC	0.443													---	13	---	---	8	---					
MCTS1	28985	broad.mit.edu	37	X	119739292	119739293	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:119739292_119739293insAT	uc004esx.3	+	1	390_391	c.42_43insAT	c.(40-45)tgcatcfs	p.C14fs	MCTS1_uc011mub.2_Frame_Shift_Ins_p.C15fs|MCTS1_uc022cdn.1_5'UTR	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	Homo sapiens malignant T cell amplified sequence 1 (MCTS1), transcript variant 1, mRNA.	14					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TGTCCAACTGCATCCAGTTGAA	0.332													---	101	---	---	28	---					
STAG2	10735	broad.mit.edu	37	X	123184115	123184118	+	Frame_Shift_Del	DEL	AATG	-	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:123184115_123184118delAATG	uc004eua.3	+	10	1377_1380	c.973_976delAATG	c.(973-978)aatgacfs	p.N325fs	STAG2_uc004etz.4_Frame_Shift_Del_p.N325fs|STAG2_uc004eub.3_Frame_Shift_Del_p.N325fs|STAG2_uc004euc.3_Frame_Shift_Del_p.N325fs|STAG2_uc004eud.3_Frame_Shift_Del_p.N325fs|STAG2_uc004eue.3_Frame_Shift_Del_p.N325fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	325	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCCTTTCTTAATGACAGTTATTT	0.412													---	120	---	---	61	---					
