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
PIK3R1	5295	broad.mit.edu	37	5	67569270	67569270	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67569270G>A	uc003jva.3	+	2	967	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	129	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATTGCCCCGCCTCTTCTTA	0.443000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			24	223					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	C	G	rs148702086	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000													3	33					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33893721	33893721	+	Silent	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr15:33893721C>G	uc001zhi.3	+	16	1960	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	RYR3_uc010bar.3_Silent_p.L630L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	630	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACCTACTCCTGCAGACAC	0.512000													23	24					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570054	53570054	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:53570054C>T	uc003xre.4	-	14	2893	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	RB1CC1_uc003xrf.4_Missense_Mutation_p.D779N	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	779					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTTGTATCCTGCATTCGT	0.403000													33	85					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:1629152C>G	uc001ltw.1	-	0	542	c.464G>C	c.(463-465)tGc>tCc	p.C155S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627000													6	224					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003348	57003348	+	Silent	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:57003348A>G	uc001njo.3	-	0	1580	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	377						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTCAACCACAAGGGTCTCCT	0.612000													22	34					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88239302	88239302	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:88239302A>C	uc003pme.3	-	9	896	c.836T>G	c.(835-837)gTc>gGc	p.V279G	RARS2_uc003pmc.3_Missense_Mutation_p.V104G|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	279					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAACTTTAAGACCTCTTGAGA	0.308000													17	48					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504434	70504434	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:70504434C>T	uc002sgn.4	+	5	1494	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	PCYOX1_uc010fdo.3_Silent_p.N399N|PCYOX1_uc010yqu.2_Silent_p.N458N	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	476					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGCCCACAACGCTGCACTCC	0.468000													15	256					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627000		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)			49	65					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149340328	149340328	+	Silent	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:149340328A>G	uc003qmg.3	+	5	1031	c.735A>G	c.(733-735)ttA>ttG	p.L245L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	245					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACCCCAGGTTATTTTACATCA	0.463000													5	173					0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183609326	183609326	+	Silent	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:183609326T>C	uc003ivd.1	+	10	2118	c.2043T>C	c.(2041-2043)tgT>tgC	p.C681C	ODZ3_uc003ive.1_Silent_p.C87C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	681	EGF-like 6.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAGAAATATGTTCTGTGGACT	0.527000													58	92					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132458383	132458383	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:132458383G>A	uc004exc.1	-	2	713	c.501C>T	c.(499-501)cgC>cgT	p.R167R	GPC4_uc011mvg.1_Silent_p.R97R	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	167					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCTCCAGGAGGCGAGCCCAGA	0.468000													21	84					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:45222924C>T	uc003tnb.3	+	2	421	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632000													13	230					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696680	50696680	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50696680G>A	uc003paf.3	+	3	1222	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	237							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473000													6	103					0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120243252	120243252	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:120243252C>T	uc003icw.3	-	0	65	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	2							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TGCTGTCAAACGCCATGATTT	0.398000													7	253					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11795176	11795176	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:11795176A>G	uc002gne.3	+	57	11263	c.11195A>G	c.(11194-11196)gAc>gGc	p.D3732G	DNAH9_uc010coo.3_Missense_Mutation_p.D3026G|DNAH9_uc002gnf.3_Missense_Mutation_p.D44G|DNAH9_uc010vvh.1_Missense_Mutation_p.D85G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3732					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCTAATAGACAGCATAACC	0.542000													6	170					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12461735	12461735	+	Silent	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:12461735T>C	uc001atv.3	+	61	12000	c.11859T>C	c.(11857-11859)ttT>ttC	p.F3953F	VPS13D_uc001atw.3_Silent_p.F3928F|VPS13D_uc001atx.3_Silent_p.F3140F|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3952					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAAGTTTCTTTGGCTACGATC	0.373000													38	54					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117134	46117134	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr21:46117134C>T	uc002zfw.1	+	0	48	c.18C>T	c.(16-18)agC>agT	p.S6S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	6						keratin filament				large_intestine(1)|lung(8)	9						TCTGCTCCAGCGACCTGAGCT	0.642000													27	166					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326405	15326405	+	RNA	SNP	C	C	T	rs8127713	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr21:15326405C>T	uc002yji.2	-	1		c.810G>A								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TTTCCATTGACTATTCTGTTT	0.423000													4	89					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48706915	48706915	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:48706915T>C	uc003xqi.3	-	74	10660	c.10603A>G	c.(10603-10605)Agc>Ggc	p.S3535G	PRKDC_uc003xqj.3_Missense_Mutation_p.S3535G	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3536	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTTCGCTGCTTATGATGAAG	0.423000								Non-homologous end-joining					9	14					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr13:25168432T>C	uc001upm.3	+	9		c.1104T>C			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TTGAAACAGCTGGTGTATTAA	0.373000													4	37					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:114270000G>A	uc003vhb.3	+	4	911	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q204Q|FOXP2_uc003vha.3_Silent_p.Q87Q|FOXP2_uc011kmv.2_Silent_p.Q179Q|FOXP2_uc011kmu.2_Silent_p.Q196Q|FOXP2_uc010ljz.2_Silent_p.Q87Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhc.3_Silent_p.Q204Q|FOXP2_uc003vhd.3_Silent_p.Q179Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	33					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620372	7620372	+	Silent	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:7620372T>C	uc003bqm.2	+	7	2053	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I593I|GRM7_uc003bql.2_Silent_p.I593I|GRM7_uc003bqn.1_Silent_p.I176I|GRM7_uc010hch.1_Silent_p.I104I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	593					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCTGTGATTCCTGTCTTCC	0.552000													10	117					0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49936551	49936551	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:49936551C>T	uc011dwq.2	-	1	88	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	30					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CTTTTTCTCTCTGCAACTTCT	0.383000													3	26					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464040	50464040	+	Missense_Mutation	SNP	G	G	A	rs148651187	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:50464040G>A	uc010ybh.2	-	1	320	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SIGLEC11_uc010ybi.2_Missense_Mutation_p.R77W	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	77	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGCTGGTCCGTCCTTTGAAC	0.607000													3	30					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121997207	121997207	+	Missense_Mutation	SNP	C	C	T	rs141932688	byFrequency	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:121997207C>T	uc002tmx.3	-	7	880	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	TFCP2L1_uc010flr.3_Missense_Mutation_p.V263M	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	263					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGGTAGGCCACGTCGGGCCAT	0.632000													4	76					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	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								35	66					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			11	13					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000													5	8					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23748659	23748659	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:23748659G>T	uc004dao.3	-	5	531	c.385C>A	c.(385-387)Ctt>Att	p.L129I	ACOT9_uc004dap.3_Missense_Mutation_p.L120I|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Missense_Mutation_p.L60I|ACOT9_uc004dat.1_Missense_Mutation_p.L120I	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGCTGTCAAGATCCTCAAGA	0.343000													37	12					2.43139e-17	2.52144e-17	1	1	0
HMHA1	23526	broad.mit.edu	37	19	1085938	1085938	+	Missense_Mutation	SNP	C	C	T	rs146748497		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:1085938C>T	uc002lqz.1	+	22	3575	c.3344C>T	c.(3343-3345)cCc>cTc	p.P1115L	HMHA1_uc010xgd.1_Missense_Mutation_p.P1131L|HMHA1_uc010xge.1_Missense_Mutation_p.P983L|HMHA1_uc002lra.1_Missense_Mutation_p.P955L|HMHA1_uc002lrb.1_Missense_Mutation_p.P998L|HMHA1_uc002lrc.1_Missense_Mutation_p.P750L	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	1115					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTGCCCCCCATGAGGCTC	0.682000													10	191					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324661	103324661	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:103324661C>G	uc002tca.3	+	11	2294	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	718						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTGCCAGAACAGTTCTCCAA	0.537000													26	126					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	Splice_Site	SNP	G	G	A	rs4770716	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr13:25168501G>A	uc001upm.3	+	10		c.1173_splice	c.e10+1		TPTE2P6_uc001upn.3_Splice_Site|TPTE2P6_uc001upo.3_Splice_Site					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TTTTCTCTTCGGTGAGTAATC	0.388000													4	44					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661005	90661005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:90661005G>A	uc011eab.2	-	6	1694	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	BACH2_uc003pnw.3_Nonsense_Mutation_p.Q274*|BACH2_uc010kch.3_Nonsense_Mutation_p.Q274*	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	274						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTTAATCTGCCCCCTGGCA	0.532000													46	58					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011409	50011409	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50011409T>C	uc011dws.2	-	1	221	c.221A>G	c.(220-222)tAc>tGc	p.Y74C		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	74					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTGCACAGTATGAAATCCT	0.433000													34	67					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396342	17396342	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:17396342A>G	uc011kye.2	+	0	57	c.9A>G	c.(7-9)atA>atG	p.I3M	SLC7A2_uc011kyc.2_Intron|SLC7A2_uc011kyd.2_Missense_Mutation_p.I3M	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATGAAGATAGAAACAAGTG	0.388000													17	62					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38435137	38435137	+	Splice_Site	SNP	C	C	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:38435137C>A	uc001cci.3	-	14	1295	c.1171_splice	c.e14-1	p.P391_splice	SF3A3_uc010oik.2_Splice_Site_p.P338_splice	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	391					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGGAATAGGCTAAAAAAGAA	0.418000													15	34					3.27435e-08	3.33389e-08	1	1	0
UBC	7316	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:21730847G>T	uc002gyy.3	+	1	274	c.149G>T	c.(148-150)cGg>cTg	p.R50L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	202	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCAAGCAGCGGGAAGATGGC	0.522000													3	46					0.115264	0.115264	1	1	0
KRT81	3887	broad.mit.edu	37	12	52680930	52680930	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr12:52680930G>A	uc001sab.3	-	6	1253	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Silent_p.I20I	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	401	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.647000													5	106					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr13:25168489G>A	uc001upm.3	+	9		c.1161G>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAAGTGCAGTTTTTCTCTT	0.363000													4	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179655479	179655479	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:179655479C>G	uc021vsy.1	-	10	1981	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.E586Q|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	586							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)			GTGGTAGTTTCTTCTTGAGCT	0.423000													6	149					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2909299	2909299	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:2909299C>T	uc010ckd.3	+	15	1413	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	RAP1GAP2_uc010cke.3_Silent_p.N426N	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	441	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCGAGAACGCCTGCTGCA	0.572000													5	148					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83855297	83855297	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:83855297A>G	uc011dyy.2	+	24	5829	c.5569A>G	c.(5569-5571)Atc>Gtc	p.I1857V	DOPEY1_uc003pjs.1_Missense_Mutation_p.I1866V|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1857V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1866					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCGTTCAATCAGTGTCAT	0.373000													15	26					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147010283	147010283	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:147010283T>C	uc010nst.3	+	4	606	c.377T>C	c.(376-378)tTc>tCc	p.F126S	FMR1_uc011mwz.2_Missense_Mutation_p.F126S|FMR1_uc004fcj.3_Missense_Mutation_p.F126S|FMR1_uc022cgc.1_Missense_Mutation_p.F126S|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Missense_Mutation_p.F126S|FMR1_uc022cge.1_Missense_Mutation_p.F126S|FMR1_uc022cgf.1_Missense_Mutation_p.F126S|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_5'UTR|FMR1_uc011mxa.2_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	126					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATACTTTCCATAAGATC	0.368000									Fragile X syndrome				10	63					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40782860	40782860	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:40782860C>T	uc001cfh.1	-	0	122	c.10G>A	c.(10-12)Gct>Act	p.A4T	COL9A2_uc001cfi.1_Intron	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	4					axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GAGGCCGTAGCGGCGGCCATG	0.701000													9	4					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79943447	79943447	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:79943447C>G	uc002kcy.3	+	3	435	c.338C>G	c.(337-339)aCc>aGc	p.T113S	ASPSCR1_uc002kcx.3_Missense_Mutation_p.T113S|ASPSCR1_uc021ufj.1_Missense_Mutation_p.T36S|ASPSCR1_uc002kda.3_Missense_Mutation_p.T36S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T36S	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	113							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCAGGCCAGACCCTCTGGGAG	0.542000			T	TFE3	alveolar soft part sarcoma								4	80					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71166162	71166162	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:71166162A>G	uc001oqn.3	+	1	218	c.92A>G	c.(91-93)gAa>gGa	p.E31G	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	31	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGTATTGAAATTGCCAAA	0.438000													18	40					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196096372	196096372	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:196096372T>A	uc003fwm.4	-	6	701	c.626A>T	c.(625-627)gAc>gTc	p.D209V	UBXN7_uc003fwn.4_Missense_Mutation_p.D61V|UBXN7_uc010iae.3_Missense_Mutation_p.D47V	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	209							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCCTCACTGTCATGATAAAC	0.363000													14	48					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:12187443C>G	uc002mtb.2	+	3	1651	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													3	45					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67591086A>G	uc003jva.3	+	12	2259	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290G|PIK3R1_uc003jve.3_Missense_Mutation_p.D239G|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197G|PIK3R1_uc011crb.2_Missense_Mutation_p.D230G	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(2)|p.R557_K561>Q(2)|p.0?(1)|p.?(1)|p.D560H(1)|p.R557_D560del(1)|p.I559V(1)|p.D560Y(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			24	89					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73548698	73548698	+	Splice_Site	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:73548698A>G	uc001jrx.4	+	43	6202	c.5812_splice	c.e43-1	p.D1938_splice		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1941	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTTGCAGGATTATGACTTG	0.547000													14	25					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786309	27786309	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr16:27786309G>A	uc002dow.3	+	23	4377	c.4353G>A	c.(4351-4353)gtG>gtA	p.V1451V		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1451										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAGGGTGTGGGCGGGGACG	0.627000													14	75					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76264637	76264637	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:76264637G>A	uc003ker.3	+	6	1176	c.896G>A	c.(895-897)cGt>cAt	p.R299H		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	299					female pregnancy|learning or memory|signal transduction	soluble fraction		p.Y298H(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTGAGTATCGTCAGCTGGAG	0.458000													18	58					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	205	---	---	---	---					
MKRN1	23608	broad.mit.edu	37	7	140154921	140154922	+	Frame_Shift_Del	DEL	TC	TC	-	rs1062780		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:140154921_140154922delTC	uc003vvt.2	-	6	1434_1435	c.1209_1210delGA	c.(1207-1212)cagaaafs	p.Q403fs	MKRN1_uc003vvs.2_Frame_Shift_Del_p.Q339fs|MKRN1_uc011krd.1_Frame_Shift_Del_p.Q137fs	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	403							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTTCCCACTTTCTGTCTCTGTG	0.485													80	187	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:81072446delC	uc001kaf.2	+	24	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													7	413	---	---	---	---					
L3MBTL1	26013	broad.mit.edu	37	20	42143378	42143378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:42143378delC	uc010zwh.2	+	3	474	c.398delC	c.(397-399)gccfs	p.A133fs	L3MBTL1_uc010ggk.2_Frame_Shift_Del_p.A65fs|L3MBTL1_uc002xkm.3_Frame_Shift_Del_p.A65fs|L3MBTL1_uc010ggl.3_Frame_Shift_Del_p.A65fs|L3MBTL1_uc002xkl.3_Frame_Shift_Del_p.A65fs	NM_032107	NP_115479	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant II, mRNA.	65					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GATGGCGGGGCCCCGGCGGGA	0.721													2	4	---	---	---	---					
DBNDD2	55861	broad.mit.edu	37	20	44038638	44038640	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:44038638_44038640delCCT	uc002xof.3	+	2	823_825	c.650_652delCCT	c.(649-654)acctcc>acc	p.S223del	DBNDD2_uc002xnx.3_In_Frame_Del_p.S121del|DBNDD2_uc021wei.1_In_Frame_Del_p.S121del|DBNDD2_uc002xnz.3_In_Frame_Del_p.S121del|DBNDD2_uc002xoa.3_3'UTR|DBNDD2_uc021wej.1_In_Frame_Del_p.S121del|DBNDD2_uc002xob.3_In_Frame_Del_p.S219del|DBNDD2_uc002xoc.3_In_Frame_Del_p.S121del|DBNDD2_uc002xod.3_3'UTR|DBNDD2_uc002xog.3_3'UTR	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	219					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACATCTAGGAcctcctcctcctc	0.567													3	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939473	76939474	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:76939473_76939474delTT	uc004ecp.4	-	8	1506_1507	c.1274_1275delAA	c.(1273-1275)aaafs	p.K425fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K387fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K210fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K386fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K425fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K370fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	425					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)	TATTTTTCTCTTTGTTTACAGC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						79	35	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:99663560_99663562delCAG	uc010nmz.3	-	0	1710_1712	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													2	4	---	---	---	---					
