Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
COL20A1	57642	broad.mit.edu	37	20	61959791	61959791	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:61959791G>A	uc011aau.2	+	33	3822	c.3722G>A	c.(3721-3723)cGc>cAc	p.R1241H	COL20A1_uc011aav.2_Missense_Mutation_p.R1068H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1241					cell adhesion	collagen|extracellular space	structural molecule activity	p.R1240C(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGGCACCCGCAGCAAGGCC	0.662000													13	21					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169404167	169404167	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:169404167C>T	uc002uec.1	+	1	356	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CERS6_uc002ueb.1_Missense_Mutation_p.P78S	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	78						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACAAATTGCTCCGCCCAATGC	0.443000													14	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:7577547C>T	uc002gim.2	-	6	928	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_uc002gig.1_Missense_Mutation_p.G245D|TP53_uc002gih.3_Missense_Mutation_p.G245D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113D|TP53_uc010cnf.1_Missense_Mutation_p.G113D|TP53_uc002gii.1_Missense_Mutation_p.G113D|TP53_uc010cni.1_Missense_Mutation_p.G245D|TP53_uc010cnh.1_Missense_Mutation_p.G245D|TP53_uc002gij.2_Missense_Mutation_p.G245D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152D|TP53_uc002gio.2_Missense_Mutation_p.G113D|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(296)|p.G245D(203)|p.G245V(124)|p.G245C(51)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245A(16)|p.G244V(14)|p.G244G(13)|p.G245R(10)|p.G244A(9)|p.0?(8)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G245fs*2(4)|p.G152V(4)|p.G244R(4)|p.G245G(3)|p.G152D(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.G245E(2)|p.C242_M246>L(2)|p.S241_G245delSCMGG(2)|p.C238_M246delCNSSCMGGM(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245fs*22(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	4					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr8:116430678C>A	uc003yny.3	-	5	3281	c.2703G>T	c.(2701-2703)agG>agT	p.R901S	TRPS1_uc011lhy.2_Missense_Mutation_p.R892S|TRPS1_uc003ynz.3_Missense_Mutation_p.R888S|TRPS1_uc010mcy.3_Missense_Mutation_p.R888S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	888			T -> P (in TRPS3; severe).		NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473000									Langer-Giedion syndrome				6	181					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104491922	104491922	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:104491922T>G	uc001yom.4	+	25	2770	c.2740T>G	c.(2740-2742)Tgg>Ggg	p.W914G	TDRD9_uc001yon.4_Missense_Mutation_p.W652G	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	914					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGGACACTTTTGGGGATACAG	0.443000													19	44					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58565875	58565875	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:58565875G>C	uc002env.3	-	41	6457	c.6164C>G	c.(6163-6165)aCg>aGg	p.T2055R	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.T2050R|CNOT1_uc002ent.3_5'UTR|CNOT1_uc010vik.2_Missense_Mutation_p.T1012R	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2055					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423000													34	4					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000													5	48					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41582141	41582141	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:41582141T>A	uc002idu.1	+	11	1748	c.1676T>A	c.(1675-1677)cTt>cAt	p.L559H	DHX8_uc010wif.1_Missense_Mutation_p.L468H|DHX8_uc010wig.2_Missense_Mutation_p.L559H	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	559						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGTCAATCCTTGAGCAGAGG	0.473000													164	71					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38942307	38942307	+	Splice_Site	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:38942307T>C	uc021yzh.1	+	85	12943	c.12834_splice	c.e85+2	p.Q4278_splice	DNAH8_uc003ooe.2_Splice_Site_p.Q4061_splice|DNAH8_uc003oog.1_Splice_Site_p.Q510_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGTGCAGGTAACTGCAGAA	0.483000													4	58					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278698	152278698	+	Silent	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152278698T>G	uc001ezu.1	-	2	8700	c.8664A>C	c.(8662-8664)ggA>ggC	p.G2888G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2888	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACACTGGATCCCTGGCGCC	0.567000									Ichthyosis				106	326					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490147	76490147	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:76490147C>T	uc010dhp.2	-	40	6504	c.6379G>A	c.(6379-6381)Gtc>Atc	p.V2127I	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCATTCCCGACGATGAACACG	0.662000													11	5					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67404868	67404868	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:67404868T>A	uc002esv.3	+	8	1236	c.1217T>A	c.(1216-1218)tTc>tAc	p.F406Y	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Missense_Mutation_p.F138Y|LRRC36_uc002esx.3_Missense_Mutation_p.F285Y|LRRC36_uc010vjk.2_Missense_Mutation_p.F285Y|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	406										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ACAACCCATTTCAACAGTGAC	0.473000													148	7					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413586	68413586	+	RNA	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:68413586G>A	uc004aex.3	+	0		c.141G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TCTAGGAAAGGTTGTGCCTTT	0.597000													5	29					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3162118	3162118	+	Missense_Mutation	SNP	G	G	C	rs140443512		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr10:3162118G>C	uc001igp.3	+	15	1641	c.1565G>C	c.(1564-1566)cGg>cCg	p.R522P	PFKP_uc001igq.3_Missense_Mutation_p.R514P|PFKP_uc009xhr.3_Missense_Mutation_p.R484P|PFKP_uc009xhs.1_Missense_Mutation_p.R306P|PFKP_uc009xht.3_Missense_Mutation_p.R260P|PFKP_uc009xhu.3_Missense_Mutation_p.R28P	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	522					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TCAGCCGCCCGGGAGAAGCAC	0.632000											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	77					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049003	143049003	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:143049003A>T	uc003wcr.1	+	22	2999	c.2912A>T	c.(2911-2913)cAg>cTg	p.Q971L	CLCN1_uc011ktc.1_Missense_Mutation_p.Q583L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	971					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACATCTTGCAGGGCCCCAGC	0.637000													48	10					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000													6	32					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:48382317T>A	uc002phr.2	-	3	683	c.543A>T	c.(541-543)ttA>ttT	p.L181F		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CATAACTCAGTAACAGGAAGT	0.463000													20	186					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56093864	56093864	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:56093864T>C	uc010giw.1	-	4	1120	c.1009A>G	c.(1009-1011)Act>Gct	p.T337A	CTCFL_uc010gix.1_Missense_Mutation_p.T337A|CTCFL_uc002xym.2_Missense_Mutation_p.T337A|CTCFL_uc010gjb.1_Missense_Mutation_p.T337A|CTCFL_uc010gja.1_Missense_Mutation_p.T337A|CTCFL_uc010gjc.1_Missense_Mutation_p.T337A|CTCFL_uc010gjd.1_Missense_Mutation_p.T337A|CTCFL_uc010gje.3_Missense_Mutation_p.T337A|CTCFL_uc010gjg.3_Missense_Mutation_p.T69A|CTCFL_uc010gjf.3_Missense_Mutation_p.T132A|CTCFL_uc010gjh.2_Missense_Mutation_p.T337A|CTCFL_uc010gji.2_Missense_Mutation_p.T132A|CTCFL_uc010gjj.2_Missense_Mutation_p.T337A|CTCFL_uc021wfe.1_Missense_Mutation_p.T337A|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.T69A|CTCFL_uc010gjk.1_Missense_Mutation_p.T337A|CTCFL_uc010gjl.1_Missense_Mutation_p.T337A	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	337					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCTCATGAGTATGTTTATAG	0.458000													65	53					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32428344	32428344	+	Silent	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr18:32428344G>C	uc010dmn.1	+	12	1351	c.1350G>C	c.(1348-1350)tcG>tcC	p.S450S	DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Silent_p.S393S|DTNA_uc002kxw.2_Silent_p.S393S|DTNA_uc002kxz.2_Silent_p.S390S|DTNA_uc002kxy.2_Silent_p.S390S|DTNA_uc010dmj.3_Silent_p.S390S|DTNA_uc002kyb.4_Silent_p.S447S|DTNA_uc010dml.3_Silent_p.S390S|DTNA_uc010dmm.3_Silent_p.S450S|DTNA_uc010xby.1_Silent_p.S140S|DTNA_uc021uiq.1_Silent_p.S227S|DTNA_uc021uir.1_Silent_p.S170S|DTNA_uc002kyd.4_Silent_p.S72S|DTNA_uc010dmo.3_Silent_p.S72S|DTNA_uc002kye.3_Silent_p.S98S|DTNA_uc010xca.2_Silent_p.S102S|DTNA_uc010xbz.2_Silent_p.S159S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	450	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCTCTTCGTCTGTAAGTA	0.428000													16	13					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567176	136567176	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:136567176G>T	uc002tuu.1	-	7	2752	c.2741C>A	c.(2740-2742)tCc>tAc	p.S914Y		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	914	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGATAAGCGGAAGAGGACAC	0.517000													4	117					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976601	4976601	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:4976601A>G	uc010qyt.2	-	0	343	c.343T>C	c.(343-345)Tca>Cca	p.S115P		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	115					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)		AGGAGGACTGAGGACTCCAGT	0.453000													4	68					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416359	105416359	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:105416359G>C	uc010axc.1	-	6	5549	c.5429C>G	c.(5428-5430)tCc>tGc	p.S1810C	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1710C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1810						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCCAGGGACAGGTCACC	0.617000													9	632					0	0	1	0	0
PDCD5	9141	broad.mit.edu	37	19	33077794	33077794	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:33077794A>T	uc002ntm.3	+	4	363	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	PDCD5_uc010ede.3_Intron	NM_004708	NP_004699	O14737	PDCD5_HUMAN	Homo sapiens programmed cell death 5 (PDCD5), mRNA.	97					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGAAATCCTTAAAAAAGTAAG	0.323000													25	53					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639777	225639777	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:225639777G>A	uc010fwz.1	-	51	6097	c.5858C>T	c.(5857-5859)aCg>aTg	p.T1953M	DOCK10_uc002vob.2_Missense_Mutation_p.T1947M|DOCK10_uc002voa.2_Missense_Mutation_p.T609M	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1953	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAGAACGGCGTCACATAGGT	0.493000													15	23					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86210421	86210421	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:86210421G>A	uc001dlj.3	-	56	4675	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S	COL24A1_uc001dli.3_Missense_Mutation_p.P649S|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P834S|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1534	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTGCCAAGAGGATTCTTGATG	0.393000													16	37					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984813	7984813	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:7984813C>T	uc001mfv.1	-	0	247	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	77	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCTTCAAGCCCTTGAGGAC	0.542000													35	4					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866382	110866382	+	Silent	SNP	A	A	C	rs146585233	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr4:110866382A>C	uc003hzy.4	+	4	1343	c.891A>C	c.(889-891)gtA>gtC	p.V297V	EGF_uc011cfu.2_Silent_p.V297V|EGF_uc011cfv.2_Silent_p.V297V	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	297					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AACTGAAAGTAGTGCATCCAC	0.463000													15	15					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021513	46021513	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr21:46021513C>A	uc002zfn.4	+	1	1002	c.977C>A	c.(976-978)cCc>cAc	p.P326H	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	331	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCCGTCCCCTCCTGCTGC	0.721000													11	154					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142237984	142237984	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:142237984G>C	uc002tvj.1	-	2	1296	c.324C>G	c.(322-324)gaC>gaG	p.D108E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	108	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACTCCTTCGTCATACCCAT	0.408000										TSP Lung(27;0.18)			11	16					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941536	6941536	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:6941536C>G	uc002geh.3	+	2	717	c.409C>G	c.(409-411)Cga>Gga	p.R137G		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	137						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTCTCGCCGACGATCCCTGGC	0.597000													44	7					0	0	1	0	0
MBNL3	55796	broad.mit.edu	37	X	131573526	131573526	+	Silent	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:131573526G>T	uc004ewv.4	-	0	817	c.114C>A	c.(112-114)gcC>gcA	p.A38A	MBNL3_uc004eww.3_5'UTR|MBNL3_uc010nrl.1_Non-coding_Transcript|MBNL3_uc004ewu.4_Silent_p.A38A	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	38					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGGATGGGCAAACTTGC	0.433000													42	173					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325750	152325750	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152325750G>A	uc001ezw.4	-	2	4585	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1504							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCACTGGACTCACTGT	0.502000													95	212					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158594952	158594952	+	Splice_Site	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:158594952C>T	uc002tzn.3	-	10	1825	c.1395_splice	c.e10+1	p.P465_splice	ACVR1_uc002tzm.3_Splice_Site_p.P465_splice|ACVR1_uc010fog.2_Splice_Site_p.P465_splice	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	465	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCATTCTTACCGGGTCTGAGA	0.433000													21	80					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100870	27100870	+	Missense_Mutation	SNP	C	C	G	rs149908828	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:27100870C>G	uc001bmv.1	+	17	4525	c.4152C>G	c.(4150-4152)caC>caG	p.H1384Q	ARID1A_uc001bmt.1_Missense_Mutation_p.H1383Q|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.H1001Q|ARID1A_uc001bmx.1_Missense_Mutation_p.H230Q|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1384	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAAGCGGCACGAAGGGGAGA	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								3	37					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805124	7805124	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:7805124G>A	uc001qtb.3	-	2	386	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	APOBEC1_uc001qtc.3_Missense_Mutation_p.R73W	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	118					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAAAAAGCCGAGCTACGTAG	0.483000													31	30					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793423	217793423	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:217793423G>A	uc001hlf.1	-	1	571	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	GPATCH2_uc001hlg.4_Missense_Mutation_p.R159C	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	159						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTCCTCCTGCGCAGAGTTCTA	0.473000													37	32					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351648	132351648	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:132351648T>G	uc004exb.1	-	0	729	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	214	DCB1 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCAGACTGTTTCTGCTTTATT	0.458000													6	120					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15260618	15260618	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:15260618G>C	uc001mlz.3	+	10	1502	c.1391G>C	c.(1390-1392)aGc>aCc	p.S464T	INSC_uc001mly.3_Missense_Mutation_p.S511T|INSC_uc001mma.3_Missense_Mutation_p.S464T|INSC_uc010rcs.2_Missense_Mutation_p.S499T|INSC_uc001mmb.3_Missense_Mutation_p.S464T|INSC_uc001mmc.3_Missense_Mutation_p.S422T	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	511					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTGCGGCTCAGCTGTGAGTGG	0.617000													16	19					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117890850	117890850	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:117890850C>T	uc003pxu.3	-	6	1216	c.962G>A	c.(961-963)gGg>gAg	p.G321E	ROS1_uc003pxq.1_Missense_Mutation_p.G94E|DCBLD1_uc003pxs.3_3'UTR|ROS1_uc003pxv.3_Missense_Mutation_p.G313E	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCAGGTTGCCCCGGATGGAT	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	180					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21377577	21377577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr22:21377577G>T	uc010gsu.1	+	6	652	c.652G>T	c.(652-654)Gag>Tag	p.E218*	P2RX6_uc002ztz.2_Nonsense_Mutation_p.E192*|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	218					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CAATGCCTTGGAGACCTGGGA	0.562000													90	10					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2987238	2987238	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:2987238G>A	uc003smv.3	-	2	525	c.191C>T	c.(190-192)cCt>cTt	p.P64L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	64	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGCAGCATAGGGGCATTAAG	0.537000			Mis		DLBCL								36	58					0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789014	55789014	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:55789014G>A	uc002qkd.3	-	3	745	c.411C>T	c.(409-411)gcC>gcT	p.A137A	HSPBP1_uc002qjx.3_Silent_p.A183A|HSPBP1_uc002qkc.3_Silent_p.A137A	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	140					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGTACCTGCGGCATTGTCCA	0.672000													7	16					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413635	68413635	+	RNA	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:68413635G>A	uc004aex.3	+	0		c.190G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CATCTAACAGGCTGGAGGTGA	0.637000													4	22					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028470	100028470	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:100028470G>A	uc003uuw.3	+	0	1217	c.829G>A	c.(829-831)Gga>Aga	p.G277R	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	277							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGCCGGAGGGAGTGA	0.662000													4	154					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366760	23366760	+	Silent	SNP	C	C	G	rs148125384		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:23366760C>G	uc002dln.3	+	3	902	c.726C>G	c.(724-726)ggC>ggG	p.G242G		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	242					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GCTACCCCGGCGAGCAGATGA	0.617000													37	3					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170025162	170025162	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:170025162T>C	uc002ues.3	-	60	11735	c.11522A>G	c.(11521-11523)tAc>tGc	p.Y3841C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3841	LDL-receptor class A 34.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCCTGGCAGTATGCACCATC	0.428000													3	30					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149498363	149498363	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr5:149498363A>T	uc003lro.3	-	20	3320	c.2851T>A	c.(2851-2853)Ttc>Atc	p.F951I	PDGFRB_uc010jhd.3_Missense_Mutation_p.F790I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	951	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGGGAGAAGGGGGGCCGA	0.577000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								26	96					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37989841	37989841	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:37989841A>G	uc003tfp.3	+	2	897	c.878A>G	c.(877-879)tAt>tGt	p.Y293C	EPDR1_uc003tfq.3_3'UTR|EPDR1_uc010kxh.3_Missense_Mutation_p.Y112C	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	173					cell-matrix adhesion	extracellular region	calcium ion binding	p.Y293C(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAGGATTGCTATCCTGTCCAG	0.383000													11	13					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638535	56638535	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56638535G>A	uc001skm.4	-	23	2713	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	875							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGCAGCATCCGGAGCCCAGAG	0.607000													37	104					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976057	107976057	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:107976057T>A	uc004eoc.2	-	0	3551	c.3518A>T	c.(3517-3519)gAa>gTa	p.E1173V		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	1173	Ala-rich.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTTACTGCTTCGGCATCAGC	0.637000													106	134					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	368135	368135	+	Splice_Site	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:368135G>A	uc003zgf.2	+	15	1909	c.1797_splice	c.e15+1	p.P599_splice	DOCK8_uc022bcu.1_Splice_Site_p.P531_splice|DOCK8_uc010mgv.3_Splice_Site_p.P531_splice|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgw.2_Splice_Site|DOCK8_uc003zgk.2_Silent_p.P2P|DOCK8_uc022bct.1_Splice_Site	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	599					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGCGATGCCGGTAAGGAGGG	0.478000													5	87					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70963618	70963618	+	Silent	SNP	C	C	A	rs61757802		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:70963618C>A	uc001swb.4	-	11	2847	c.2817G>T	c.(2815-2817)acG>acT	p.T939T	PTPRB_uc010sto.2_Silent_p.T939T|PTPRB_uc010stp.2_Silent_p.T849T|PTPRB_uc001swc.4_Silent_p.T1157T|PTPRB_uc001swa.4_Silent_p.T1069T|PTPRB_uc001swd.4_Silent_p.T1156T|PTPRB_uc009zrr.2_Silent_p.T1036T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	939	Fibronectin type-III 11.		T -> M (in dbSNP:rs2304821).		angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCCGACACCGTGTAGGAAT	0.517000													19	33					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580612	35580612	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:35580612A>G	uc001bym.3	+	9	3327	c.3181A>G	c.(3181-3183)Agt>Ggt	p.S1061G	ZMYM1_uc001byn.3_Missense_Mutation_p.S1061G|ZMYM1_uc010ohu.2_Missense_Mutation_p.S1042G|ZMYM1_uc001byo.3_Missense_Mutation_p.S701G|ZMYM1_uc009vut.3_Missense_Mutation_p.S986G	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	1061						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTCTTCACAGTAATATTCC	0.363000													39	51					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291941	62291941	+	Silent	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:62291941G>C	uc001ntl.3	-	4	10248	c.9948C>G	c.(9946-9948)ccC>ccG	p.P3316P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3316					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCAACTTGGGCCCAGAGA	0.443000													26	22					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284533	152284533	+	Silent	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152284533T>G	uc001ezu.1	-	2	2865	c.2829A>C	c.(2827-2829)ggA>ggC	p.G943G	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	943	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAACACTGGATCCCTGGCGCC	0.567000									Ichthyosis				10	454					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:109689499A>C	uc004bcz.3	+	2	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P950P|ZNF462_uc004bda.3_Silent_p.P950P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCCCCCCCACAACCCCCGC	0.527000													4	38					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681862	189681862	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:189681862C>A	uc011bsk.2	-	13	2307	c.1919G>T	c.(1918-1920)cGc>cTc	p.R640L	LEPREL1_uc003fsg.3_Missense_Mutation_p.R459L	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	640	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGATCATGCGCCCACATTT	0.463000													32	47					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696599	47696599	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:47696599T>C	uc002ipg.3	-	3	646	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_uc010dbk.3_Missense_Mutation_p.M117V|SPOP_uc002ipb.3_Missense_Mutation_p.M117V|SPOP_uc002ipc.3_Missense_Mutation_p.M117V|SPOP_uc002ipd.3_Missense_Mutation_p.M117V|SPOP_uc002ipe.3_Missense_Mutation_p.M117V|SPOP_uc002ipf.3_Missense_Mutation_p.M117V	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	117	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.M117V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTACCCATAGCTTTGGTT	0.413000										Prostate(2;0.17)			26	41					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45877083	45877083	+	Splice_Site	SNP	G	G	A	rs17856737		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:45877083G>A	uc003cox.1	-	3	461	c.323_splice	c.e3+1	p.R108_splice	LZTFL1_uc003coy.1_Splice_Site_p.R91_splice|LZTFL1_uc011bak.1_Splice_Site	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	108				R -> Q (in Ref. 4; AAH25988).						endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTATTACCGGTTTTCAAGT	0.398000													24	36					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110384637	110384637	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr4:110384637G>A	uc003hzk.3	+	1	769	c.714G>A	c.(712-714)tcG>tcA	p.S238S	SEC24B_uc003hzl.3_Silent_p.S238S|SEC24B_uc011cfp.2_Silent_p.S269S|SEC24B_uc011cfq.2_Silent_p.S238S|SEC24B_uc011cfr.2_Silent_p.S238S	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	238					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCCATCCATCGCCACTTCCAC	0.458000													4	124					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15609873	15609873	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:15609873C>A	uc004cxa.1	-	3	714	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ACE2_uc004cxb.2_Missense_Mutation_p.E182D	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	182					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGACCACATACTCTTCATATA	0.463000													185	221					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541232	133541232	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:133541232C>G	uc002ttp.3	-	13	3526	c.3152G>C	c.(3151-3153)cGc>cCc	p.R1051P	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1051							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGTGTTTGGCGAGGAGAGGT	0.557000													33	47					0	0	1	0	0
IER3	8870	broad.mit.edu	37	6	30711931	30711931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:30711931delT	uc003nrn.3	-	1	285	c.253delA	c.(253-255)aggfs	p.R85fs	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	85					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AAGAGAAGCCTTTTGGCTGGG	0.627													95	113	---	---	---	---					
UNC93B1	81622	broad.mit.edu	37	11	67763096	67763096	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:67763096delT	uc001omw.1	-	9	1426	c.1346delA	c.(1345-1347)aagfs	p.K449fs		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	450					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GAGTCCAGTCTTGTTCAGGGC	0.602													2	4	---	---	---	---					
ITGA7	3679	broad.mit.edu	37	12	56078974	56078976	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56078974_56078976delCTC	uc001shh.3	-	24	3512_3514	c.3292_3294delGAG	c.(3292-3294)gagdel	p.E1098del	ITGA7_uc001shg.3_In_Frame_Del_p.E1094del|ITGA7_uc010sps.2_In_Frame_Del_p.E1001del|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_In_Frame_Del_p.E341del|ITGA7_uc009znx.3_In_Frame_Del_p.E975del	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1138					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCCCGTCTTCTCCTCCTTGAAC	0.645													33	43	---	---	---	---					
LOC100130581	100130581	broad.mit.edu	37	17	41466121	41466131	+	RNA	DEL	CGGCGCATGGA	CGGCGCATGGA	-	rs66664722		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:41466121_41466131delCGGCGCATGGA	uc010wib.1	-	0		c.136_146delTCCATGCGCCG			LOC100130581_uc010czf.3_Non-coding_Transcript|LOC100130581_uc010wid.2_Non-coding_Transcript|LOC100130581_uc010wie.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100130581 (LOC100130581), transcript variant 2, non-coding RNA.																		CAGAGGGAGGCGGCGCATGGACGGCGAGGGC	0.668													9	9	---	---	---	---					
