Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM132A	388581	broad.mit.edu	37	1	1179654	1179654	+	Splice_Site	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:1179654C>T	uc001adl.2	-	3	327	c.295_splice	c.e3-1	p.R99_splice		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	Homo sapiens family with sequence similarity 132, member A (FAM132A), mRNA.	99						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGAGATCCCGCTGGGGGGA	0.672000														44			3		0	0	0.115264	0	0
MEGF8	1954	broad.mit.edu	37	19	42857651	42857651	+	Silent	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42857651G>A	uc002otl.4	+	19	4019	c.3384G>A	c.(3382-3384)cgG>cgA	p.R1128R	MEGF8_uc002otm.4_Silent_p.R736R	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1195						integral to membrane	calcium ion binding|structural molecule activity	p.S1128R(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACGATGCCGGCCCGGCAGCT	0.682000														29			5		0	0	0.217242	0	0
DOCK7	85440	broad.mit.edu	37	1	62995074	62995074	+	Silent	SNP	A	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:62995074A>G	uc001daq.3	-	29	3689	c.3655T>C	c.(3655-3657)Tta>Cta	p.L1219L	DOCK7_uc001dan.3_Silent_p.L1080L|DOCK7_uc001dao.3_Silent_p.L1080L|DOCK7_uc001dap.3_Silent_p.L1188L|DOCK7_uc001dam.3_Silent_p.L399L|DOCK7_uc010oov.1_Silent_p.L47L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1219					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGGAGAGTAAATTGTGTACC	0.408000														58			35		0	0	0.840704	0	0
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:7578524G>C	uc002gim.2	-	4	600	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(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)		TTGGCCAGTTGGCAAAACATC	0.562000		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)				4			70		0	0	0.870114	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448000														171			16		2.31682e-05	2.4647e-05	0.479597	1	0
FAM117A	81558	broad.mit.edu	37	17	47841412	47841412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:47841412G>A	uc002ipk.3	-	0	107	c.38C>T	c.(37-39)gCc>gTc	p.A13V	FAM117A_uc010wlz.2_Intron	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	13										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						cggcccccaggcacctccgcc	0.816000														6			4		0	0	0.184627	0	0
NEB	4703	broad.mit.edu	37	2	152383461	152383461	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:152383461C>T	uc021vrb.1	-	118	16842	c.16813G>A	c.(16813-16815)Gcc>Acc	p.A5605T	NEB_uc002txr.3_Missense_Mutation_p.A2071T|NEB_uc002txu.3_Missense_Mutation_p.A7306T|NEB_uc021vrc.1_Missense_Mutation_p.A7306T|NEB_uc010fnx.3_Missense_Mutation_p.A5593T|NEB_uc021vrd.1_Missense_Mutation_p.A5605T|NEB_uc002txt.4_Missense_Mutation_p.A110T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5605					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.L5604L(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463000														9			6		0	0	0.248553	0	0
OR4A16	81327	broad.mit.edu	37	11	55111136	55111136	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:55111136T>G	uc010rie.2	+	0	460	c.460T>G	c.(460-462)Tct>Gct	p.S154A		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S154C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTGCACTCTGTGGTTCA	0.453000														161			10		0	0	0.411799	0	0
LGR5	8549	broad.mit.edu	37	12	71978154	71978154	+	Silent	SNP	C	G	G	rs147161623		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:71978154C>G	uc001swl.3	+	17	2412	c.2364C>G	c.(2362-2364)tcC>tcG	p.S788S	LGR5_uc001swm.3_Silent_p.S764S|LGR5_uc021rar.1_Silent_p.S716S|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	788						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGTCCTTCTCCTCTTTAATAA	0.428000														168			5		0	0	0.184627	0	0
INSRR	3645	broad.mit.edu	37	1	156814052	156814052	+	Silent	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:156814052G>A	uc010pht.2	-	14	3057	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	920					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.L920fs*37(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACATGCAGCCCCCCAGCA	0.562000														82			4		0	0	0.184627	0	0
ABRA	137735	broad.mit.edu	37	8	107782084	107782084	+	Missense_Mutation	SNP	G	A	A	rs113926734		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:107782084G>A	uc003ymm.4	-	0	389	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	112					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTGACCACCGTTTTGGACAC	0.547000														124			5		0	0	0.217242	0	0
ARSI	340075	broad.mit.edu	37	5	149676821	149676821	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:149676821A>G	uc003lrv.2	-	1	2255	c.1666T>C	c.(1666-1668)Ttt>Ctt	p.F556L		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	556						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACGGAAAAAGGATCGAAGC	0.537000														138			3		0	0	0.184627	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025938	203025938	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:203025938C>G	uc009xaj.3	+	23	2642	c.2642C>G	c.(2641-2643)cCc>cGc	p.P881R	PPFIA4_uc010pqf.2_Missense_Mutation_p.P463R|PPFIA4_uc001gyz.3_Missense_Mutation_p.P250R|PPFIA4_uc001gza.3_Missense_Mutation_p.P250R|PPFIA4_uc001gzb.1_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	250					cell communication	cell surface|cytoplasm	protein binding	p.P881T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCAGCAACCCCAGCAGCAGC	0.562000														11			4		0	0	0.150653	0	0
DSG3	1830	broad.mit.edu	37	18	29054105	29054105	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr18:29054105C>T	uc002kws.3	+	14	2232	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	DSG3_uc002kwt.3_5'UTR	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	708					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACGTATGCCAGAGGCACA	0.438000														126			6		0	0	0.217242	0	0
FBXO43	286151	broad.mit.edu	37	8	101146458	101146458	+	Silent	SNP	T	C	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:101146458T>C	uc003yjd.3	-	3	2545	c.1809A>G	c.(1807-1809)ggA>ggG	p.G603G	FBXO43_uc003yje.3_Silent_p.G569G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	603					meiosis		zinc ion binding	p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAAAACTTCTCCCCAGGGAG	0.408000														57			58		0	0	0.870114	0	0
NLRX1	79671	broad.mit.edu	37	11	119050958	119050958	+	Missense_Mutation	SNP	G	A	A	rs151306288		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:119050958G>A	uc001pvu.3	+	6	2443	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	NLRX1_uc010rzc.1_Missense_Mutation_p.R565H|NLRX1_uc001pvv.3_Missense_Mutation_p.R743H|NLRX1_uc001pvw.3_Missense_Mutation_p.R743H|NLRX1_uc001pvx.3_Missense_Mutation_p.R743H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	743	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCTGCGCACACTCCTG	0.612000														42			93		0	0	0.870114	0	0
ZNF425	155054	broad.mit.edu	37	7	148809259	148809259	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr7:148809259T>A	uc003wfj.3	-	2	407	c.274A>T	c.(274-276)Atg>Ttg	p.M92L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTATTCTTCATGTTCAACTGT	0.363000														177			16		0	0	0.520397	0	0
WDR33	55339	broad.mit.edu	37	2	128477431	128477431	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:128477431G>A	uc002tpg.2	-	15	2367	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	723	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGGGCCAGGCGGGCCTTG	0.632000														81			5		0	0	0.248553	0	0
WDR96	80217	broad.mit.edu	37	10	105990414	105990414	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:105990414G>A	uc001kxw.3	-	1	369	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	WDR96_uc001kxx.4_Missense_Mutation_p.R85W|WDR96_uc001kxy.1_Missense_Mutation_p.R85W|WDR96_uc001kxz.3_Missense_Mutation_p.R85W	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	85										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTAGCTTCCGGTCAGAAAAA	0.423000														59			50		0	0	0.870114	0	0
PDE6C	5146	broad.mit.edu	37	10	95385365	95385365	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:95385365G>T	uc001kiu.4	+	4	1036	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	300	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAAGCTTGGAGAAGTAGAGCC	0.413000														43			6		0.000157383	0.000163941	0.278610	1	0
CLEC9A	283420	broad.mit.edu	37	12	10215755	10215755	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:10215755T>C	uc001qxa.3	+	6	1034	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	141	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCAAGAGAATTGTTTAAAGGA	0.368000														103			10		0	0	0.411799	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:53855364C>T	uc010ydv.1	+	3	1553	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_uc010ydw.1_Missense_Mutation_p.T479I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378000														105			6		0	0	0.217242	0	0
ZNF845	91664	broad.mit.edu	37	19	53855365	53855365	+	Silent	SNP	A	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:53855365A>G	uc010ydv.1	+	3	1554	c.1437A>G	c.(1435-1437)acA>acG	p.T479T	ZNF845_uc010ydw.1_Silent_p.T479T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGACATCATCCCTTG	0.378000														104			6		0	0	0.248553	0	0
MAPK12	6300	broad.mit.edu	37	22	50693717	50693717	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:50693717G>C	uc003bkm.1	-	10	1084	c.933C>G	c.(931-933)ttC>ttG	p.F311L	MAPK12_uc003bko.2_Missense_Mutation_p.F221L|MAPK12_uc003bkl.1_Missense_Mutation_p.F301L|MAPK12_uc003bkq.2_Missense_Mutation_p.F130L	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	311	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACTCGAAGTAGGGAT	0.612000														66			60		0	0	0.870114	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:72057258T>C	uc001swo.2	-	0	492	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	ZFC3H1_uc010sts.2_Missense_Mutation_p.S45G|ZFC3H1_uc001swp.3_Missense_Mutation_p.S45G|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		141			4		0	0	0.217242	0	0
CHEK2	11200	broad.mit.edu	37	22	29090043	29090043	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:29090043C>T	uc003adu.1	-	12	1510	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.A259T|CHEK2_uc010gvh.1_Missense_Mutation_p.A389T|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.A523T|CHEK2_uc003adv.1_Missense_Mutation_p.A451T|CHEK2_uc003adx.1_Missense_Mutation_p.A259T	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	480	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGTCTTAAGGCTTCTTCTGTC	0.488000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						131			97		0	0	0.870114	0	0
OR10C1	442194	broad.mit.edu	37	6	29408070	29408070	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr6:29408070G>A	uc011dlp.2	+	0	355	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R93C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587000														65			51		0	0	0.870114	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396179	42396179	+	Silent	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42396179C>T	uc002orx.3	+	4	418	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ARHGEF1_uc002orw.1_Silent_p.F103F|ARHGEF1_uc002ory.3_Intron|ARHGEF1_uc002orz.3_5'UTR|ARHGEF1_uc002osa.3_Silent_p.F118F|ARHGEF1_uc002osb.3_Intron	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	103	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCACAGCTTCCTGGAGAAGA	0.612000														33			29		0	0	0.788014	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									74			35		0	0	0.847076	0	0
MYOM3	127294	broad.mit.edu	37	1	24392470	24392470	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:24392470T>C	uc001bin.4	-	28	3608	c.3445A>G	c.(3445-3447)Act>Gct	p.T1149A	MYOM3_uc001bil.4_Missense_Mutation_p.T42A|MYOM3_uc001bim.4_Missense_Mutation_p.T806A|MYOM3_uc001bio.3_Missense_Mutation_p.T1149A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1149	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAAAGCGAGTCTCCTTCTTG	0.517000														160			5		0	0	0.278610	0	0
UNC5D	137970	broad.mit.edu	37	8	35583683	35583683	+	Silent	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:35583683C>T	uc003xjr.2	+	9	1645	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	UNC5D_uc003xjs.2_Silent_p.L434L|UNC5D_uc003xju.2_Silent_p.L15L|UNC5D_uc003xjt.1_Silent_p.L197L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	439					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCCCTGCTCCTGAATTCTG	0.502000														129			8		0	0	0.387290	0	0
LAMC3	10319	broad.mit.edu	37	9	133942444	133942444	+	Silent	SNP	C	T	T	rs145571152	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:133942444C>T	uc004caa.1	+	13	2543	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	815	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G814R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTAGCGGGAACGTGGACCCCA	0.647000														39			5		0	0	0.184627	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369109	37369109	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:37369109A>G	uc003cgv.3	+	13	6092	c.5732A>G	c.(5731-5733)cAt>cGt	p.H1911R	GOLGA4_uc010hgr.2_Missense_Mutation_p.H1472R|GOLGA4_uc003cgw.3_Missense_Mutation_p.H1933R|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.H1792R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1911	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCAAATCACATTTGGTCCAA	0.403000														51			49		0	0	0.870114	0	0
GOLGA6L9	440295	broad.mit.edu	37	15	85787868	85787868	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr15:85787868G>A	uc010upj.1	+	5	676	c.611G>A	c.(610-612)cGt>cAt	p.R204H	AK301968_uc010upk.1_5'Flank	NM_198181	NP_937824	A6NEM1	GG6L9_HUMAN	Homo sapiens golgin A6 family-like 9 (GOLGA6L9), mRNA.	216																	GAGAGGCTACGTGAACAGGAG	0.552000														8			4		0	0	0.217242	0	0
AX747417	0	broad.mit.edu	37	3	95374179	95374179	+	RNA	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:95374179C>T	uc003dro.1	-	4		c.1683G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		GATATTCTAACGGTGGCATCA	0.418000														25			16		0	0	0.539581	0	0
AMACR	23600	broad.mit.edu	37	5	33989379	33989379	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:33989379A>G	uc003jij.3	-	4	1064	c.968T>C	c.(967-969)gTg>gCg	p.V323A	AMACR_uc003jig.3_Missense_Mutation_p.V323A|AMACR_uc003jih.3_3'UTR	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	323					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.D322D(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCGGGGGCTCACGTCCTGCTC	0.507000														82			42		0	0	0.870114	0	0
CCDC60	160777	broad.mit.edu	37	12	119961500	119961500	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:119961500G>A	uc001txe.3	+	10	1571	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	369										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCCACAGCCGCACTAATTGT	0.567000														65			3		0	0	0.150653	0	0
TRPC6	7225	broad.mit.edu	37	11	101375482	101375482	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:101375482C>T	uc001pgk.4	-	1	643	c.218G>A	c.(217-219)cGt>cAt	p.R73H	TRPC6_uc009ywy.3_Missense_Mutation_p.R73H|TRPC6_uc009ywz.1_Missense_Mutation_p.R73H	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	73					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCCTTCTCACGGAGAACTGT	0.463000														124			68		0	0	0.870114	0	0
CCDC19	25790	broad.mit.edu	37	1	159842834	159842834	+	Missense_Mutation	SNP	G	A	A	rs148876212	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:159842834G>A	uc001fui.3	-	10	1495	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R408W|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	493						mitochondrion|soluble fraction		p.R493R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTGGCAATCCGGTTCTGCACT	0.597000														99			7		0	0	0.307466	0	0
OR4F5	79501	broad.mit.edu	37	1	69454	69454	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:69454delC	uc001aal.1	+	0	364	c.364delC	c.(364-366)cccfs	p.P122fs		NM_001005484	NP_001005484	Q8NH21	OR4F5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 5 (OR4F5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AATATGCAAGCCCCTACACTA	0.478													---	4	---	---	2	---					
NOTCH2	4853	broad.mit.edu	37	1	120491679	120491680	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120491679_120491680delCT	uc001eik.3	-	15	2846_2847	c.2549_2550delAG	c.(2548-2550)gagfs	p.E850fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.E850fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	850	EGF-like 22.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.E850*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTTGGTGACTCTTTGCAAAC	0.431			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	201	---	---	9	---					
NOTCH2	4853	broad.mit.edu	37	1	120497724	120497725	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120497724_120497725insT	uc001eik.3	-	12	2454_2455	c.2157_2158insA	c.(2155-2160)tcacagfs	p.S719fs	NOTCH2_uc001eil.3_Frame_Shift_Ins_p.S719fs|NOTCH2_uc021osy.1_Frame_Shift_Ins_p.S680fs|NOTCH2_uc001eim.4_Frame_Shift_Ins_p.S636fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	719					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGTTCACCTGTGAGTAGCAGC	0.535			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	141	---	---	9	---					
DHX30	22907	broad.mit.edu	37	3	47888021	47888023	+	In_Frame_Del	DEL	ATC	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:47888021_47888023delATC	uc003cru.3	+	10	1885_1887	c.1459_1461delATC	c.(1459-1461)atcdel	p.I488del	DHX30_uc003crt.3_In_Frame_Del_p.I449del	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	488	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGCAATGTTATCATCACCCAAC	0.650													---	167	---	---	64	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	427	---	---	11	---					
ANK2	287	broad.mit.edu	37	4	114214679	114214681	+	In_Frame_Del	DEL	CAC	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:114214679_114214681delCAC	uc003ibe.4	+	21	2560_2562	c.2460_2462delCAC	c.(2458-2463)gtcacc>gtc	p.T826del	ANK2_uc003ibd.4_In_Frame_Del_p.T805del|ANK2_uc003ibf.4_In_Frame_Del_p.T826del|ANK2_uc011cgc.2_In_Frame_Del_p.T35del|ANK2_uc003ibc.2_In_Frame_Del_p.T802del|ANK2_uc011cgb.1_In_Frame_Del_p.T841del	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	826					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGGAGGTCACCACCACCACC	0.468													---	75	---	---	8	---					
SLC7A11	23657	broad.mit.edu	37	4	139144383	139144386	+	Frame_Shift_Del	DEL	TAAT	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:139144383_139144386delTAAT	uc021xrw.1	-	3	893_896	c.613_616delATTA	c.(613-618)attatafs	p.I205fs		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	205					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCAGGGACTATAATTATCAGAATT	0.387													---	91	---	---	7	---					
FSTL5	56884	broad.mit.edu	37	4	162697089	162697089	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:162697089delT	uc003iqh.3	-	4	983	c.547delA	c.(547-549)atgfs	p.M183fs	FSTL5_uc003iqi.3_Frame_Shift_Del_p.M182fs|FSTL5_uc010iqv.3_Frame_Shift_Del_p.M182fs	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	183	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTTAAACATTTGATCCACC	0.284													---	27	---	---	47	---					
SNORD65	692106	broad.mit.edu	37	7	23436135	23436136	+	Splice_Site	INS	-	A	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr7:23436135_23436136insA	uc022aam.1	+	1		c.71_splice	c.e1+1		IGF2BP3_uc003swg.3_Intron					Rfam model RF00571 hit found at contig region AC021876.5/63434-63504																		GTTTTCTGAAGAAAAAAAAAAT	0.366													---	4	---	---	5	---					
NOTCH1	4851	broad.mit.edu	37	9	139393364	139393365	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:139393364_139393365delAT	uc004chz.3	-	32	6166_6167	c.6166_6167delAT	c.(6166-6168)atgfs	p.M2056fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2056					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.M2057fs*211(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGTTCTGCATATCTTTGTTA	0.609			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			---	313	---	---	8	---					
RNASEH2C	84153	broad.mit.edu	37	11	65487791	65487793	+	In_Frame_Del	DEL	CTT	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:65487791_65487793delCTT	uc001ofn.3	-	1	448_450	c.268_270delAAG	c.(268-270)aagdel	p.K90del	RNASEH2C_uc001ofm.3_Non-coding_Transcript	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	Homo sapiens ribonuclease H2, subunit C (RNASEH2C), mRNA.	90					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CCATCGACACCTTCTTCTCTTCT	0.621													---	147	---	---	13	---					
TMC4	147798	broad.mit.edu	37	19	54672374	54672376	+	In_Frame_Del	DEL	AGA	-	-	rs143105109		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:54672374_54672376delAGA	uc010erf.3	-	3	623_625	c.491_493delTCT	c.(490-495)ttctcc>tcc	p.F164del	TMC4_uc002qdo.3_In_Frame_Del_p.F158del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	164						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCAGCAGGGAGAAGTAGGACTC	0.670											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	0	---	---	8	---					
DHX35	60625	broad.mit.edu	37	20	37591029	37591029	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr20:37591029delC	uc002xjh.3	+	0	49	c.19delC	c.(19-21)ccgfs	p.P7fs	DHX35_uc010zwa.2_5'UTR|DHX35_uc010zwc.2_Frame_Shift_Del_p.P7fs|DHX35_uc010zwb.2_5'UTR	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	7						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCCCGTGGGACCGGTGAAGTT	0.721													---	14	---	---	16	---					
ATRX	546	broad.mit.edu	37	X	76938271	76938272	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chrX:76938271_76938272delTT	uc004ecp.4	-	8	2708_2709	c.2476_2477delAA	c.(2476-2478)aagfs	p.K826fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K788fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K611fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K758fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K797fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K771fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	826					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	actcatgctctttatctctttt	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	14	---	---	64	---					
