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
C9orf114	51490	broad.mit.edu	37	9	131586077	131586077	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr9:131586077G>C	ENST00000361256.5	-	11	1051	c.1011C>G	c.(1009-1011)gaC>gaG	p.D337E		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	337										kidney(2)|large_intestine(4)|ovary(1)	7						TGACGTACAGGTCAAAGAGGA	0.642000													4	10					0	0	0.150653	0	0
EMILIN2	84034	broad.mit.edu	37	18	2913269	2913269	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr18:2913269T>C	ENST00000254528.3	+	8	3188	c.3029T>C	c.(3028-3030)cTc>cCc	p.L1010P	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	1010	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCACCTCATCGTGCAC	0.592000													32	57					0	0	0.750413	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186948459	186948459	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:186948459A>G	ENST00000367466.3	+	17	2125	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E598G	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	658	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTTCCAAGGGAAACTGAGGAA	0.333000													8	140					0	0	0.307466	0	0
ZFX	7543	broad.mit.edu	37	X	24229263	24229263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:24229263C>T	ENST00000379177.1	+	11	2615	c.2188C>T	c.(2188-2190)Caa>Taa	p.Q730*	ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q501*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q680*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q730*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q730*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q769*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGATTTAGGCAACAGAGTGA	0.408000													10	167					0	0	0.361761	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389342	62389342	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:62389342C>A	ENST00000531383.1	-	1	284	c.78G>T	c.(76-78)caG>caT	p.Q26H	B3GAT3_ENST00000265471.5_Missense_Mutation_p.Q26H|B3GAT3_ENST00000534026.1_Missense_Mutation_p.Q26H			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	26					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						gcTCACCGAGCTGTACCAGCG	0.721000													4	25					0.00909568	0.0101658	0.150653	1	0
OR8I2	120586	broad.mit.edu	37	11	55860898	55860898	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:55860898G>C	ENST00000302124.2	+	1	146	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L	OR8I2_ENST00000560768.1_Missense_Mutation_p.V39L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTATTCACTGTTTTGGGAAA	0.378000													157	314					0	0	0.870114	0	0
ZMAT3	64393	broad.mit.edu	37	3	178748788	178748788	+	Splice_Site	SNP	C	C	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:178748788C>G	ENST00000311417.2	-	3	1012		c.e3-1		ZMAT3_ENST00000432729.1_Splice_Site	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3						apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GATTTTTACCCTAGAAATAAA	0.398000													44	72					0	0	0.847076	0	0
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:46242662C>T	ENST00000334344.6	+	13	1796	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343000			"""N, S, F"""		hepatocellular carcinoma								46	91					0	0	0.853193	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818852	101818852	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:101818852G>A	ENST00000263468.8	+	4	755	c.485G>A	c.(484-486)cGt>cAt	p.R162H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	162							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCCTTTTCCCGTAGACCAACA	0.348000													44	72					0	0	0.847076	0	0
CHD6	0	broad.mit.edu	37	20	40045243	40045243	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr20:40045243C>T	ENST00000373233.3	-	33	6648	c.6471G>A	c.(6469-6471)gcG>gcA	p.A2157A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTGGGCCGCCAATGCTG	0.552000													79	161					0	0	0.870114	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	129					0	0	0.150653	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966477	58966477	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:58966477C>A	ENST00000391696.1	+	3	1068	c.136C>A	c.(136-138)Cct>Act	p.P46T	ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	197	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCCCCTTGCCTGTCCACTC	0.587000													35	65					1.36615e-20	1.55741e-20	0.769981	1	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			64	20					0	0	0.870114	0	0
AQPEP	0	broad.mit.edu	37	5	115336874	115336874	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:115336874C>T	ENST00000357872.4	+	10	1882	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	AQPEP_ENST00000395528.2_Silent_p.G103G	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		586					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGTCTACTGGCGTCATGAAAC	0.398000													8	266					0	0	0.278610	0	0
UTRN	7402	broad.mit.edu	37	6	144872125	144872125	+	Missense_Mutation	SNP	C	C	T	rs114254210	byFrequency	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:144872125C>T	ENST00000367545.3	+	47	6835	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2279					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTAGAACAGCGCCATCCTCA	0.338000													45	108					0	0	0.853193	0	0
EXOC2	55770	broad.mit.edu	37	6	564075	564075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:564075G>A	ENST00000230449.4	-	16	1882	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.R178*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	583					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CAACGTACTCGGAGATCCAAG	0.458000													3	94					0	0	0.184627	0	0
KCNH7	90134	broad.mit.edu	37	2	163302583	163302583	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:163302583T>C	ENST00000332142.5	-	7	1598	c.1499A>G	c.(1498-1500)gAc>gGc	p.D500G	KCNH7_ENST00000328032.4_Missense_Mutation_p.D493G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	500					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCAACCATGTCAATCAGGAA	0.353000													4	123					0	0	0.184627	0	0
C17orf62	79415	broad.mit.edu	37	17	80407088	80407088	+	Translation_Start_Site	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:80407088G>C	ENST00000336995.7	-	0	119				C17orf62_ENST00000437807.2_Missense_Mutation_p.L15V|C17orf62_ENST00000577436.1_Missense_Mutation_p.L15V|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000577732.1_Missense_Mutation_p.L15V|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000578919.1_Missense_Mutation_p.L15V|C17orf62_ENST00000434650.2_Missense_Mutation_p.L15V|C17orf62_ENST00000583617.1_Missense_Mutation_p.L15V|C17orf62_ENST00000585064.1_Missense_Mutation_p.L15V|C17orf62_ENST00000585080.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578913.1_Missense_Mutation_p.L15V|C17orf62_ENST00000306645.5_Missense_Mutation_p.L15V			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCCTCTTCAGATGGAGGCGG	0.617000													11	3					0	0	0.411799	0	0
OR11H4	390442	broad.mit.edu	37	14	20710969	20710969	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr14:20710969G>C	ENST00000315409.2	+	1	72	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTTCTTTGTAGACTTAAGACC	0.418000													4	98					0	0	0.217242	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368000													4	125					0	0	0.150653	0	0
SENP7	57337	broad.mit.edu	37	3	101177814	101177814	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:101177814T>G	ENST00000394095.2	-	4	322	c.269A>C	c.(268-270)aAg>aCg	p.K90T	SENP7_ENST00000348610.3_Missense_Mutation_p.K57T|SENP7_ENST00000394094.2_Missense_Mutation_p.K90T|SENP7_ENST00000394091.1_Missense_Mutation_p.K57T|SENP7_ENST00000358203.3_Missense_Mutation_p.K57T|SENP7_ENST00000314261.7_Missense_Mutation_p.K90T	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	90				K -> R (in Ref. 3; CAB66534).	proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGATGACTTGGAAGTAAC	0.358000													75	368					0	0	0.870114	0	0
SPZ1	84654	broad.mit.edu	37	5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413000													68	118					0	0	0.870114	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								45	96					0	0	0.859065	0	0
AGK	55750	broad.mit.edu	37	7	141301025	141301025	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:141301025A>C	ENST00000355413.4	+	5	502	c.242A>C	c.(241-243)gAa>gCa	p.E81A	AGK_ENST00000473247.1_Missense_Mutation_p.E53A|AGK_ENST00000535825.1_Missense_Mutation_p.E78A	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	81	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					ACTCTATTTGAAAAAAATGCT	0.363000													22	135					0	0	0.654019	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													3	35					0	0	0.115264	0	0
SLC23A3	151295	broad.mit.edu	37	2	220034279	220034279	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:220034279C>T	ENST00000455516.2	-	2	331	c.284G>A	c.(283-285)gGt>gAt	p.G95D	SLC23A3_ENST00000295738.7_Missense_Mutation_p.G95D|SLC23A3_ENST00000409878.3_Missense_Mutation_p.G95D|SLC23A3_ENST00000396775.3_Missense_Mutation_p.G37D	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	95					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTAGACATACCACATGAAAA	0.582000													97	240					0	0	0.870114	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052339	55052339	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:55052339C>T	ENST00000474759.1	+	35	3030	c.2982C>T	c.(2980-2982)tgC>tgT	p.C994C	CACNA2D3_ENST00000415676.2_Silent_p.C994C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.C900C|CACNA2D3_ENST00000288197.5_Silent_p.C994C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	994						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTGAAGACTGCTCCAAGTAAG	0.502000													16	33					0	0	0.479597	0	0
HNF1B	6928	broad.mit.edu	37	17	36099519	36099519	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36099519C>T	ENST00000225893.4	-	2	817	c.456G>A	c.(454-456)caG>caA	p.Q152Q	HNF1B_ENST00000561193.1_Silent_p.Q152Q|HNF1B_ENST00000427275.2_Silent_p.Q152Q|HNF1B_ENST00000560016.1_Silent_p.Q152Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	152					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTTGAGATGCTGGGAGAGGT	0.552000													3	140					0	0	0.115264	0	0
HEATR2	54919	broad.mit.edu	37	7	813720	813720	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:813720A>G	ENST00000297440.6	+	10	1987	c.1967A>G	c.(1966-1968)gAc>gGc	p.D656G	HEATR2_ENST00000403952.3_Missense_Mutation_p.D81G|HEATR2_ENST00000313147.5_Missense_Mutation_p.D656G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	656							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTGACAAAGGACATCCTGGCC	0.642000													55	151					0	0	0.870114	0	0
AFP	174	broad.mit.edu	37	4	74303981	74303981	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:74303981A>C	ENST00000395792.2	+	3	328	c.228A>C	c.(226-228)aaA>aaC	p.K76N	AFP_ENST00000226359.2_Missense_Mutation_p.K76N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	76	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAATTGAGAAACCCACTggag	0.363000									Alpha-Fetoprotein, Hereditary Persistence of				23	112					0	0	0.608945	0	0
TTN	7273	broad.mit.edu	37	2	179456089	179456089	+	Silent	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:179456089G>A	ENST00000589042.1	-	304	60587	c.60363C>T	c.(60361-60363)acC>acT	p.T20121T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T11248T|TTN_ENST00000591111.1_Silent_p.T18480T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T17553T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T11056T|TTN_ENST00000359218.5_Silent_p.T11181T|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18480	Fibronectin type-III 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTCATCGGTTTTAATCT	0.433000													276	534					0	0	0.870114	0	0
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532000													12	172					0	0	0.411799	0	0
FUT6	2528	broad.mit.edu	37	19	5832317	5832317	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:5832317C>T	ENST00000318336.4	-	3	1456	c.262G>A	c.(262-264)Gct>Act	p.A88T	FUT6_ENST00000592563.1_Missense_Mutation_p.A88T|FUT6_ENST00000527106.1_Missense_Mutation_p.A88T|FUT6_ENST00000524754.1_Missense_Mutation_p.A88T|FUT6_ENST00000286955.5_Missense_Mutation_p.A88T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TTGCAGTCAGCCGTGCCAGGC	0.622000													4	116					0	0	0.184627	0	0
TRIM52	84851	broad.mit.edu	37	5	180687093	180687093	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:180687093T>C	ENST00000327767.4	-	1	1026	c.722A>G	c.(721-723)gAc>gGc	p.D241G	TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	241						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GGCCTCTTTGTCCACCTCACA	0.542000													107	171					0	0	0.870114	0	0
PLXNA1	5361	broad.mit.edu	37	3	126724979	126724979	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:126724979C>T	ENST00000393409.2	+	7	1955	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A629V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAGAAGTTTGCGTCTGTGGAC	0.602000													5	205					0	0	0.184627	0	0
MED13L	23389	broad.mit.edu	37	12	116460278	116460278	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:116460278G>A	ENST00000281928.3	-	5	814	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	203					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGGTGCAGGTGAAGACTGAGC	0.473000													13	34					0	0	0.457914	0	0
COG5	0	broad.mit.edu	37	7	107002756	107002756	+	Silent	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:107002756T>C	ENST00000393603.2	-	9	1309	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	COG5_ENST00000347053.3_Silent_p.G346G|COG5_ENST00000297135.3_Silent_p.G346G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	346					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TATTTACCTGTCCACAAACAG	0.393000													12	83					0	0	0.387290	0	0
RPP25	54913	broad.mit.edu	37	15	75248608	75248608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr15:75248608C>T	ENST00000322177.5	-	1	1197	c.317G>A	c.(316-318)tGg>tAg	p.W106*	RPP25_ENST00000499788.2_Nonsense_Mutation_p.W106*	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	106					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GAGGCTCTGCCACACCTCGCG	0.692000													2	5					0	0	0.115264	0	0
SRCIN1	80725	broad.mit.edu	37	17	36714502	36714502	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36714502C>T	ENST00000264659.7	-	11	2386	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.R755H	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	593					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTTGAGATAGCGCAGCCGTTC	0.701000											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	49					0	0	0.840704	0	0
FZR1	51343	broad.mit.edu	37	19	3532532	3532532	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:3532532G>C	ENST00000441788.2	+	11	1362	c.1126G>C	c.(1126-1128)Ggc>Cgc	p.G376R	FZR1_ENST00000395095.3_Missense_Mutation_p.G376R|FZR1_ENST00000313639.8_Missense_Mutation_p.G287R	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	376					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGGGGGCGGCACAGCTGA	0.652000													7	53					0	0	0.248553	0	0
RP11-372E1.6	0	broad.mit.edu	37	3	142683080	142683081	+	RNA	DEL	GT	GT	-	rs111904975		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:142683080_142683081delGT	ENST00000478823.1	+	0	79_80				RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA																							gtgtgtgttagtgtgtgtgtgt	0.584													2	4	---	---	---	---					
RPL34-AS1	0	broad.mit.edu	37	4	109512924	109512925	+	RNA	INS	-	-	AG	rs60609975		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:109512924_109512925insAG	ENST00000507248.1	-	0	90					NR_026968.1																						aagaaagaaaaagagagagaga	0.351													6	4	---	---	---	---					
RP11-526A4.1	0	broad.mit.edu	37	4	150633499	150633500	+	RNA	DEL	CA	CA	-	rs35785109		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:150633499_150633500delCA	ENST00000511993.1	-	0	763																											TGTCAATGTTcacacacacaca	0.455													3	3	---	---	---	---					
TCERG1	10915	broad.mit.edu	37	5	145886722	145886723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:145886722_145886723insA	ENST00000296702.5	+	19	2900_2901	c.2862_2863insA	c.(2860-2865)acaaaafs	p.TK954fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	954					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTTACCAAAAAAAAGAG	0.376													7	247	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													5	9	---	---	---	---					
PROSER1	80209	broad.mit.edu	37	13	39585513	39585514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr13:39585513_39585514insT	ENST00000352251.3	-	13	3656_3657	c.2823_2824insA	c.(2821-2826)agggtgfs	p.V942fs	PROSER1_ENST00000350125.3_Frame_Shift_Ins_p.V920fs|PROSER1_ENST00000484434.2_5'UTR	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	942																	CACTGCCACCCACTCTGGGACA	0.460													12	182	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													9	31	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939929	76939930	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:76939929_76939930insA	ENST00000373344.5	-	9	1032_1033	c.818_819insT	c.(817-819)tttfs	p.F273fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F235fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	273	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCAAGTCCAACAAAGGCTCTGG	0.381			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						232	122	---	---	---	---