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	ENST00000422202.1	+	33	3829	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	COL20A1_ENST00000435874.1_Missense_Mutation_p.R1254H|COL20A1_ENST00000358894.6_Missense_Mutation_p.R1241H|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1273H			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1241					cell adhesion	collagen|extracellular space	structural molecule activity			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	ENST00000305747.6	+	2	819	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CERS6_ENST00000392687.4_Missense_Mutation_p.P78S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	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	ENST00000420246.2	-	7	866	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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
MALAT1	0	broad.mit.edu	37	11	65268712	65268712	+	RNA	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.chr11:65268712T>G	ENST00000534336.1	+	0	3480					NR_002819.2																						TTTGTGGGGGTGGGGGCAAAA	0.393000													19	55					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	ENST00000395715.3	-	6	3280	c.2703G>T	c.(2701-2703)agG>agT	p.R901S	TRPS1_ENST00000520276.1_Missense_Mutation_p.R892S|TRPS1_ENST00000519076.1_Missense_Mutation_p.R642S|TRPS1_ENST00000220888.5_Missense_Mutation_p.R888S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888			T -> P (in TRPS3; severe).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|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					2.7689e-08	2.87819e-08	1	1	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	ENST00000409874.4	+	26	2788	c.2740T>G	c.(2740-2742)Tgg>Ggg	p.W914G	TDRD9_ENST00000339063.5_Missense_Mutation_p.W914G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	914					cell differentiation|DNA methylation involved in gamete generation|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	ENST00000317147.5	-	42	6496	c.6164C>G	c.(6163-6165)aCg>aGg	p.T2055R	CNOT1_ENST00000245138.4_Missense_Mutation_p.T906R|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	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
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	ENST00000262415.3	+	12	1748	c.1676T>A	c.(1675-1677)cTt>cAt	p.L559H	DHX8_ENST00000540306.1_Missense_Mutation_p.L559H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	559						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA 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													163	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	ENST00000359357.3	+	83	12437		c.e83+2		DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8											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	ENST00000368799.1	-	3	8699	c.8664A>C	c.(8662-8664)ggA>ggC	p.G2888G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	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	325					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	ENST00000389840.5	-	41	6461	c.6337G>A	c.(6337-6339)Gtc>Atc	p.V2113I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V2122I|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											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	ENST00000329956.6	+	9	1236	c.1217T>A	c.(1216-1218)tTc>tAc	p.F406Y	LRRC36_ENST00000563189.1_Missense_Mutation_p.F285Y|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.F285Y|LRRC36_ENST00000290940.7_Missense_Mutation_p.F138Y	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	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
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	ENST00000381075.2	+	18	1765	c.1541G>C	c.(1540-1542)cGg>cCg	p.R514P	PFKP_ENST00000381125.4_Missense_Mutation_p.R522P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	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	ENST00000343257.2	+	23	2999	c.2912A>T	c.(2911-2913)cAg>cTg	p.Q971L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	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
SNHG14	0	broad.mit.edu	37	15	25475858	25475858	+	RNA	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.chr15:25475858T>G	ENST00000453082.2	+	0	1453					NR_003343.1																						TGGGCCAGTGTCCATCAGCCA	0.612000													18	44					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	ENST00000222002.3	-	4	682	c.543A>T	c.(541-543)ttA>ttT	p.L181F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	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	ENST00000426658.2	-	4	1670	c.1009A>G	c.(1009-1011)Act>Gct	p.T337A	CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.T337A|CTCFL_ENST00000422109.2_Missense_Mutation_p.T337A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T75A|CTCFL_ENST00000432255.2_Missense_Mutation_p.T337A|CTCFL_ENST00000423479.2_Missense_Mutation_p.T337A|CTCFL_ENST00000433949.2_Missense_Mutation_p.T337A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T337A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T337A|CTCFL_ENST00000539382.1_Missense_Mutation_p.T132A|CTCFL_ENST00000429804.2_Missense_Mutation_p.T337A			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	337					cell cycle|DNA methylation involved in gamete generation|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	ENST00000283365.9	+	13	1530	c.1179G>C	c.(1177-1179)tcG>tcC	p.S393S	DTNA_ENST00000597674.1_Silent_p.S72S|DTNA_ENST00000269191.6_Silent_p.S450S|DTNA_ENST00000591182.1_Silent_p.S98S|DTNA_ENST00000556414.3_Silent_p.S102S|DTNA_ENST00000599844.1_Silent_p.S72S|DTNA_ENST00000598334.1_Silent_p.S390S|DTNA_ENST00000601125.1_Silent_p.S72S|DTNA_ENST00000348997.5_Silent_p.S447S|DTNA_ENST00000598142.1_Silent_p.S393S|DTNA_ENST00000399097.3_Silent_p.S98S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598774.1_Silent_p.S393S|DTNA_ENST00000597599.1_Silent_p.S390S|DTNA_ENST00000444659.1_Silent_p.S450S|DTNA_ENST00000595022.1_Silent_p.S390S|DTNA_ENST00000399121.5_Silent_p.S390S|DTNA_ENST00000269190.7_Silent_p.S451S|DTNA_ENST00000399113.3_Silent_p.S450S|DTNA_ENST00000269192.7_Silent_p.S159S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	450					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	ENST00000264162.2	-	8	2751	c.2741C>A	c.(2740-2742)tCc>tAc	p.S914Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	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					0.00909568	0.00909568	1	1	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	ENST00000380371.1	-	1	342	c.343T>C	c.(343-345)Tca>Cca	p.S115P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	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	ENST00000333244.5	-	7	5548	c.5429C>G	c.(5428-5430)tCc>tGc	p.S1810C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	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	ENST00000590247.1	+	5	483	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Nonsense_Mutation_p.K59*|PDCD5_ENST00000592786.1_Nonstop_Mutation_p.*66L	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	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	ENST00000409592.3	-	52	5953	c.5840C>T	c.(5839-5841)aCg>aTg	p.T1947M	DOCK10_ENST00000258390.7_Missense_Mutation_p.T1953M			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	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	ENST00000370571.2	-	57	4966	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	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	ENST00000328600.2	-	1	391	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	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	ENST00000265171.5	+	5	1336	c.891A>C	c.(889-891)gtA>gtC	p.V297V	EGF_ENST00000503392.1_Silent_p.V297V|EGF_ENST00000509793.1_Silent_p.V297V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	297					angiogenesis|DNA replication|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 catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase 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	ENST00000380102.2	+	1	1017	c.992C>A	c.(991-993)cCc>cAc	p.P331H	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	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					6.40141e-05	6.48348e-05	1	1	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	ENST00000389484.3	-	3	1295	c.324C>G	c.(322-324)gaC>gaG	p.D108E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	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	ENST00000308027.6	+	3	717	c.409C>G	c.(409-411)Cga>Gga	p.R137G		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	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	ENST00000370857.3	-	1	179	c.114C>A	c.(112-114)gcC>gcA	p.A38A	MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.A38A|MBNL3_ENST00000370853.3_Silent_p.A38A			Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	38					mRNA processing|multicellular organismal development|regulation of RNA splicing|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	172					4.14481e-20	4.42486e-20	1	1	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	ENST00000388718.5	-	3	4584	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	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	ENST00000263640.3	-	10	1824	c.1395_splice	c.e10+1	p.P465_splice	ACVR1_ENST00000410057.2_Splice_Site_p.P465_splice|ACVR1_ENST00000409283.2_Splice_Site_p.P465_splice|ACVR1_ENST00000434821.1_Splice_Site_p.P465_splice	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	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	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|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	ENST00000324856.7	+	18	4523	c.4152C>G	c.(4150-4152)caC>caG	p.H1384Q	ARID1A_ENST00000374152.2_Missense_Mutation_p.H1001Q|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	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	nBAF complex|npBAF complex|SWI/SNF 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	ENST00000229304.4	-	3	372	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	118					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|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	ENST00000366935.3	-	2	585	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R159C	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	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	ENST00000310125.4	-	1	728	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	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	ENST00000379554.3	+	11	1578	c.1532G>C	c.(1531-1533)aGc>aCc	p.S511T	INSC_ENST00000379556.3_Missense_Mutation_p.S464T|INSC_ENST00000525218.1_Missense_Mutation_p.S422T|INSC_ENST00000530161.1_Missense_Mutation_p.S464T|INSC_ENST00000424273.1_Missense_Mutation_p.S422T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.S464T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	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
MT-CYB	4519	broad.mit.edu	37	MT	15350	15350	+	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.chrM:15350G>A	ENST00000361789.2	+	1	604	c.604G>A	c.(604-606)Gaa>Aaa	p.202_202insK						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TATTCTTGCACGAAACGGGAT	0.478000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	95	7					0	0	1	0	0
GOPC	57120	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	ENST00000535237.1	-	7	1191	c.962G>A	c.(961-963)gGg>gAg	p.G321E	GOPC_ENST00000467125.1_5'UTR|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G321E|GOPC_ENST00000052569.6_Missense_Mutation_p.G313E					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGCAGGTTGCCCCGGATGGAT	0.458000			O	ROS1	glioblastoma								4	180					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48165680	48165680	+	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.chr17:48165680G>A	ENST00000320031.8	+	25	3467	c.3137G>A	c.(3136-3138)aGg>aAg	p.R1046K	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1046					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGACAGAGAGGCTGACCGAC	0.697000													7	7					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	ENST00000413302.2	+	7	800	c.652G>T	c.(652-654)Gag>Tag	p.E218*	P2RX6_ENST00000401443.1_Nonsense_Mutation_p.E192*|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Nonsense_Mutation_p.E165*|P2RX6_ENST00000336296.2_Nonsense_Mutation_p.E208*			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	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					5.92634e-42	6.41343e-42	1	1	0
MT-RNR2	0	broad.mit.edu	37	MT	2733	2733	+	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.chrM:2733G>A	ENST00000387347.2	+	0	1063					NR_039705.1																						gaagaccctatggagctttaa	0.473000													80	6					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	ENST00000396946.4	-	3	594	c.191C>T	c.(190-192)cCt>cTt	p.P64L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	64	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	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	ENST00000255631.5	-	4	721	c.411C>T	c.(409-411)gcC>gcT	p.A137A	HSPBP1_ENST00000433386.2_Silent_p.A137A|HSPBP1_ENST00000376343.3_Silent_p.A137A|HSPBP1_ENST00000587922.1_Silent_p.A137A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	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
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	ENST00000310512.2	+	1	1217	c.829G>A	c.(829-831)Gga>Aga	p.G277R	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	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	0	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	ENST00000343070.2	+	4	902	c.726C>G	c.(724-726)ggC>ggG	p.G242G	SCNN1B_ENST00000307331.5_Silent_p.G287G|SCNN1B_ENST00000568085.1_Silent_p.G242G|SCNN1B_ENST00000568923.1_Silent_p.G215G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	242					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			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	ENST00000263816.3	-	61	11807	c.11522A>G	c.(11521-11523)tAc>tGc	p.Y3841C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3841	LDL-receptor class A 34.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	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	ENST00000261799.4	-	21	3320	c.2851T>A	c.(2851-2853)Ttc>Atc	p.F951I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	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 calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|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	ENST00000199448.4	+	3	897	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	EPDR1_ENST00000425345.1_Missense_Mutation_p.Y112C|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Missense_Mutation_p.Y71C|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y293C	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	173					cell-matrix adhesion	extracellular region	calcium ion binding	p.Y293C(1)		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	ENST00000267116.7	-	24	2744	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	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	ENST00000372129.2	-	1	3594	c.3518A>T	c.(3517-3519)gAa>gTa	p.E1173V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1173	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|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	ENST00000432829.2	+	15	1909	c.1593_splice	c.e15+1	p.P531_splice	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Splice_Site_p.P531_splice|DOCK8_ENST00000382329.1_Silent_p.P11P|DOCK8_ENST00000453981.1_Splice_Site_p.P599_splice	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	599	DHR-1.				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	0	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	ENST00000334414.6	-	14	3515	c.3471G>T	c.(3469-3471)acG>acT	p.T1157T	PTPRB_ENST00000538708.1_Silent_p.T939T|PTPRB_ENST00000550358.1_Silent_p.T1069T|PTPRB_ENST00000551525.1_Silent_p.T1156T|PTPRB_ENST00000550857.1_Silent_p.T849T|PTPRB_ENST00000451516.2_Silent_p.T849T|PTPRB_ENST00000261266.5_Silent_p.T939T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	939	Fibronectin type-III 13.				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					8.10497e-08	8.31549e-08	1	1	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	ENST00000373330.1	+	11	3355	c.3181A>G	c.(3181-3183)Agt>Ggt	p.S1061G	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1061G|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	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	ENST00000378024.4	-	5	10222	c.9948C>G	c.(9946-9948)ccC>ccG	p.P3316P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	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	ENST00000368799.1	-	3	2864	c.2829A>C	c.(2827-2829)ggA>ggC	p.G943G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	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	ENST00000277225.5	+	3	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	ZNF462_ENST00000457913.1_Silent_p.P1102P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	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	ENST00000319332.5	-	14	2116	c.1919G>T	c.(1918-1920)cGc>cTc	p.R640L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	640	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid 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	46					1.74807e-11	1.8413e-11	1	1	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	ENST00000393331.3	-	6	819	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000393328.2_Missense_Mutation_p.M117V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	117	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.M117V(2)		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	ENST00000296135.6	-	3	496	c.323_splice	c.e3+1	p.R108_splice	LZTFL1_ENST00000539217.1_Splice_Site_p.R104_splice|LZTFL1_ENST00000536047.1_Splice_Site_p.R91_splice|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	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	ENST00000265175.5	+	2	769	c.714G>A	c.(712-714)tcG>tcA	p.S238S	SEC24B_ENST00000399100.2_Silent_p.S238S|SEC24B_ENST00000504968.2_Silent_p.S269S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	238					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi 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	123					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	ENST00000427411.1	-	5	762	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ACE2_ENST00000252519.3_Missense_Mutation_p.E182D	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	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													184	221					5.92754e-76	6.50383e-76	1	1	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	ENST00000409261.1	-	14	3525	c.3152G>C	c.(3151-3153)cGc>cCc	p.R1051P	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051P|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	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
LINC00882	0	broad.mit.edu	37	3	106824710	106824710	+	RNA	DEL	T	T	-	rs139188639		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.chr3:106824710delT	ENST00000484698.1	-	0	295																											tttttatatcttttttttttt	0.448													2	4	---	---	---	---					
ALG1L2	0	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		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.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													3	6	---	---	---	---					
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	ENST00000376377.2	-	1	394	c.365delA	c.(364-366)agfs	p.K122fs	IER3_ENST00000259874.5_Frame_Shift_Del_p.R85fs			P46695	IEX1_HUMAN	immediate early response 3	0					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AAGAGAAGCCTTTTGGCTGGG	0.627													95	113	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65222951	65222951	+	RNA	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.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													5	10	---	---	---	---					
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	ENST00000227471.2	-	10	1425	c.1346delA	c.(1345-1347)agfs	p.K449fs	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	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	ENST00000257879.6	-	25	3495_3497	c.3280_3282delGAG	c.(3280-3282)del	p.E1094del	ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_In_Frame_Del_p.E1098del|ITGA7_ENST00000452168.2_In_Frame_Del_p.E1001del|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_In_Frame_Del_p.E1088del|ITGA7_ENST00000555728.1_In_Frame_Del_p.E1138del	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	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	---	---	---	---					
