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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SYCP1	6847	broad.mit.edu	37	1	115401333	115401333	+	Splice_Site	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:115401333G>A	uc001efr.2	+	6	665	c.456_splice	c.e6+1	p.Q152_splice	SYCP1_uc010owt.1_Splice_Site|SYCP1_uc001efq.2_Splice_Site_p.Q152_splice|SYCP1_uc009wgw.2_Splice_Site_p.Q152_splice	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACTGCAAGTATGACACAA	0.323													32	92					0	0	0.004289	0	0
ECHS1	1892	broad.mit.edu	37	10	135183409	135183409	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr10:135183409G>A	uc001lmu.2	-	3	484	c.413C>T	c.(412-414)GCC>GTC	p.A138V		NM_004092	NP_004083	P30084	ECHM_HUMAN	mitochondrial short-chain enoyl-coenzyme A	138				A -> P (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AACACTCACGGCATAGCCATT	0.493													3	41					0	0	0.004672	0	0
IFITM5	387733	broad.mit.edu	37	11	298552	298552	+	Silent	SNP	C	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:298552C>T	uc001low.1	-	2	384	c.348G>A	c.(346-348)AAG>AAA	p.K116K		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	116	Extracellular (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCAGAGTCCTTGGCCAGCC	0.642													3	7					0	0	0.004672	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961751	10961751	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr12:10961751C>G	uc001qyx.2	-	1	1017	c.924G>C	c.(922-924)AAG>AAC	p.K308N	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	308	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						GAACAAAAGGCTTTCTTCTTC	0.368													22	67					0	0	0.012319	0	0
KL	9365	broad.mit.edu	37	13	33638070	33638070	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr13:33638070G>A	uc001uus.2	+	5	2794	c.2786G>A	c.(2785-2787)CGT>CAT	p.R929H		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	929	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCCTCTATCGTTATGCTGCA	0.448													18	92					0	0	0.004990	0	0
AKAP6	9472	broad.mit.edu	37	14	33165315	33165315	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr14:33165315A>C	uc001wrq.2	+	9	3169	c.2999A>C	c.(2998-3000)AAG>ACG	p.K1000T	AKAP6_uc010aml.2_Missense_Mutation_p.K997T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1000					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATCTTTACAAGGTTAGAGCT	0.478													3	36					0	0	0.009096	0	0
Unknown	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:70268158A>C	uc010cfp.1	-	3		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333													2	5					0	0	0.004672	0	0
PLCG2	5336	broad.mit.edu	37	16	81819709	81819709	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:81819709G>A	uc002fgt.2	+	2	267	c.115G>A	c.(115-117)GAG>AAG	p.E39K	PLCG2_uc010chg.1_Missense_Mutation_p.E39K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	39	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GTCCACCCCCGAGCGGAGAAC	0.592													6	16					0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			14	18					0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7577518	7577518	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577518T>A	uc002gim.2	-	7	957	c.763A>T	c.(763-765)ATC>TTC	p.I255F	TP53_uc002gig.1_Missense_Mutation_p.I255F|TP53_uc002gih.2_Missense_Mutation_p.I255F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I123F|TP53_uc010cng.1_Missense_Mutation_p.I123F|TP53_uc002gii.1_Missense_Mutation_p.I123F|TP53_uc010cnh.1_Missense_Mutation_p.I255F|TP53_uc010cni.1_Missense_Mutation_p.I255F|TP53_uc002gij.2_Missense_Mutation_p.I255F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I162F|TP53_uc002gio.2_Missense_Mutation_p.I123F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	255	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> T (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I255F(16)|p.0?(7)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255S(7)|p.I255fs*90(4)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TCCAGTGTGATGATGGTGAGG	0.582		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			16	15					0	0	0.004990	0	0
CYTSB	92521	broad.mit.edu	37	17	20135590	20135590	+	Silent	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:20135590G>A	uc002gwq.2	+	7	2368	c.2223G>A	c.(2221-2223)GAG>GAA	p.E741E	CYTSB_uc010cqx.2_Silent_p.E741E|CYTSB_uc002gwr.2_Silent_p.E741E|CYTSB_uc002gws.2_Silent_p.E741E|CYTSB_uc002gwv.2_Silent_p.E660E|CYTSB_uc010vzf.1_Silent_p.E81E|CYTSB_uc002gww.2_Silent_p.E517E|CYTSB_uc002gwt.2_Silent_p.E660E|CYTSB_uc002gwu.2_Silent_p.E660E	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	741	Potential.					nucleus					0						TCAAGTGTGAGGCCCAGCAGG	0.607													49	56					0	0	0.014410	0	0
MAPT	4137	broad.mit.edu	37	17	44068858	44068858	+	Silent	SNP	G	A	A	rs147203016	by1000genomes	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:44068858G>A	uc002ijr.3	+	9	1733	c.1413G>A	c.(1411-1413)CCG>CCA	p.P471P	MAPT_uc010dau.2_Silent_p.P471P|MAPT_uc002ijs.3_Silent_p.P154P|MAPT_uc002ijx.3_Silent_p.P125P|MAPT_uc002ijt.3_Silent_p.P96P|MAPT_uc002iju.3_Silent_p.P96P|MAPT_uc002ijv.3_Silent_p.P103P	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	471					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				TCGCCACACCGCGGGGAGCAG	0.557													4	71					0	0	0.000602	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47122357	47122357	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:47122357C>T	uc002iom.2	+	12	1659	c.1325C>T	c.(1324-1326)GCA>GTA	p.A442V	IGF2BP1_uc010dbj.2_Missense_Mutation_p.A303V	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	442	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						TTTTAGATTGCACCACCCGAA	0.478													28	65					0	0	0.008361	0	0
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:9965171C>T	uc002mmp.2	-	6	1084	c.1056G>A	c.(1054-1056)CCG>CCA	p.P352P	OLFM2_uc002mmo.2_Silent_p.P274P	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	352	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						CGAGGGTGTGCGGGTCCAGCC	0.642													3	42					0	0	0.004672	0	0
PKN1	5585	broad.mit.edu	37	19	14568915	14568915	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:14568915A>T	uc002myp.2	+	8	1406	c.1238A>T	c.(1237-1239)AAT>ATT	p.N413I	PKN1_uc002myq.2_Missense_Mutation_p.N419I	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	413	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						TGTGGCCCCAATGCCTGGGAC	0.592													6	77					0	0	0.001168	0	0
ZNF765	91661	broad.mit.edu	37	19	53911501	53911501	+	Silent	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:53911501G>A	uc010ydx.1	+	6	1020	c.693G>A	c.(691-693)AGG>AGA	p.R231R	ZNF765_uc002qbm.2_Silent_p.R231R|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	231	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		CACTCTTAAGGAAACATCAGT	0.368													3	28					0	0	0.004672	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315196	73315196	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:73315196T>C	uc002siu.3	-	3	1791	c.1550A>G	c.(1549-1551)GAC>GGC	p.D517G	RAB11FIP5_uc002sit.3_Missense_Mutation_p.D439G	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	517					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						CTGAGTCGGGTCCTTGGCTTC	0.602													14	21					0	0	0.001855	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								21	34					0	0	0.014323	0	0
LOC728323	728323	broad.mit.edu	37	2	243056808	243056808	+	RNA	SNP	T	A	A	rs144220014	by1000genomes	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:243056808T>A	uc010zpd.1	+	3		c.269T>A			LOC728323_uc010zpe.1_RNA|LOC728323_uc010zpf.1_RNA|LOC728323_uc010zpg.1_Intron	NR_024437				Homo sapiens cDNA FLJ60027 complete cds, moderately similar to F-box only protein 25.												0						ATAGCGAAGATGGAGAAATAC	0.279													3	22					0	0	0.004672	0	0
CHAF1B	8208	broad.mit.edu	37	21	37787682	37787682	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:37787682A>G	uc002yvj.2	+	13	1721	c.1583A>G	c.(1582-1584)CAG>CGG	p.Q528R		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	528					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						GAAGAAATTCAGTCAGGTAAG	0.343													3	89					0	0	0.004672	0	0
RAC2	5880	broad.mit.edu	37	22	37627415	37627415	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr22:37627415G>A	uc003arc.2	-	5	421	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_002872	NP_002863	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2	102					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|central_nervous_system(1)|skin(1)	4						CAGTGGTGCCGCACTTCTGGG	0.627													23	20					0	0	0.005443	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057857	114057857	+	Missense_Mutation	SNP	C	T	T	rs150263896		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:114057857C>T	uc003ebi.2	-	5	2401	c.2221G>A	c.(2221-2223)GGA>AGA	p.G741R	ZBTB20_uc003ebj.2_Missense_Mutation_p.G668R|ZBTB20_uc010hqp.2_Missense_Mutation_p.G668R|ZBTB20_uc003ebk.2_Missense_Mutation_p.G668R|ZBTB20_uc003ebl.2_Missense_Mutation_p.G668R|ZBTB20_uc003ebm.2_Missense_Mutation_p.G668R|ZBTB20_uc003ebn.2_Missense_Mutation_p.G668R	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACTACTTATCCGTCAGACACA	0.413													28	35					0	0	0.009535	0	0
MUC4	4585	broad.mit.edu	37	3	195516420	195516420	+	Silent	SNP	C	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:195516420C>T	uc011bto.1	-	2	2491	c.2031G>A	c.(2029-2031)TCG>TCA	p.S677S	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.S559S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	682					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTCTGAGGGCGAGTGCCCAC	0.582													26	32					0	0	0.007291	0	0
UBE2D3	7323	broad.mit.edu	37	4	103730859	103730859	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr4:103730859C>A	uc003hwk.2	-	4	551	c.90G>T	c.(88-90)ATG>ATT	p.M30I	UBE2D3_uc003hwi.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.M30I|UBE2D3_uc011cet.1_Missense_Mutation_p.M30I|UBE2D3_uc011ceu.1_Missense_Mutation_p.M30I|UBE2D3_uc003hwo.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwp.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwq.2_Missense_Mutation_p.M32I|UBE2D3_uc003hwr.2_Missense_Mutation_p.M30I	NM_181887	NP_871616	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 1	30					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GCCAATGAAACACTAGAAAAA	0.284													5	19					8.12818e-05	8.53459e-05	0.001984	1	0
C4orf31	79625	broad.mit.edu	37	4	121957900	121957900	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr4:121957900A>T	uc003idq.1	-	4	1753	c.1226T>A	c.(1225-1227)CTT>CAT	p.L409H		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	409											0						TTTTCCTCTAAGCTGAAACTG	0.413													40	65					0	0	0.006230	0	0
DNAH5	1767	broad.mit.edu	37	5	13735963	13735963	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:13735963C>T	uc003jfd.2	-	67	11576	c.11534G>A	c.(11533-11535)CGC>CAC	p.R3845H	DNAH5_uc003jfc.2_Missense_Mutation_p.R13H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CAGAAACTGGCGAAGCGAAGT	0.468									Kartagener_syndrome				4	89					0	0	0.000602	0	0
RGNEF	64283	broad.mit.edu	37	5	73072373	73072373	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:73072373G>A	uc011csq.1	+	5	703	c.692G>A	c.(691-693)CGA>CAA	p.R231Q	RGNEF_uc003kcx.2_Missense_Mutation_p.R231Q|RGNEF_uc003kcy.1_Missense_Mutation_p.R231Q|RGNEF_uc010izf.2_Missense_Mutation_p.R231Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	231					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGCTTCTCCCGAGTGCAGCTC	0.522													41	40					0	0	0.007835	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746018	140746018	+	Silent	SNP	C	T	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:140746018C>T	uc003lju.1	+	1	2121	c.2121C>T	c.(2119-2121)TTC>TTT	p.F707F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.F707F	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	707	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGCCTTCGTCATCGTGC	0.602													61	55					0	0	0.014410	0	0
COL12A1	1303	broad.mit.edu	37	6	75887610	75887610	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:75887610T>C	uc003phs.2	-	12	2372	c.2206A>G	c.(2206-2208)ACA>GCA	p.T736A	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.T394A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	736	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AAACTATCTGTAGTCTCATCT	0.343													4	140					0	0	0.000602	0	0
SIM1	6492	broad.mit.edu	37	6	100868697	100868697	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:100868697T>C	uc003pqj.3	-	9	1343	c.1136A>G	c.(1135-1137)AAG>AGG	p.K379R	SIM1_uc010kcu.2_Missense_Mutation_p.K379R	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	379	Single-minded C-terminal.|Nuclear localization signal (By similarity).				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATTTTGACTTTGAGCTGGA	0.488													7	71					0	0	0.004482	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406210	92406210	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr8:92406210G>C	uc003yex.2	+	19	2156	c.1878G>C	c.(1876-1878)GAG>GAC	p.E626D	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.E626D|SLC26A7_uc003yfa.2_Missense_Mutation_p.E626D	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	626	STAS.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAGACTCAGAGAAACCAATTT	0.343													9	118					0	0	0.006214	0	0
CDH17	1015	broad.mit.edu	37	8	95188869	95188869	+	Silent	SNP	A	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr8:95188869A>C	uc003ygh.2	-	5	449	c.324T>G	c.(322-324)GGT>GGG	p.G108G	CDH17_uc011lgo.1_Silent_p.G108G|CDH17_uc011lgp.1_Silent_p.G108G	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	108	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TAGGGACTGGACCCTCCACTA	0.478													10	33					0	0	0.014323	0	0
CCIN	881	broad.mit.edu	37	9	36170748	36170748	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr9:36170748G>A	uc003zzb.3	+	1	1360	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	417	Kelch 3.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			GGATGGCACCGCCGTGATCAC	0.537													4	44					0	0	0.000602	0	0
ATRX	546	broad.mit.edu	37	X	76874371	76874371	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874371A>C	uc004ecp.3	-	21	5583	c.5351T>G	c.(5350-5352)ATT>AGT	p.I1784S	ATRX_uc004ecq.3_Missense_Mutation_p.I1746S|ATRX_uc004eco.3_Missense_Mutation_p.I1569S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1784					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACCATTTTGAATTGGATTTAT	0.343			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						36	64					0	0	0.004289	0	0
ATRX	546	broad.mit.edu	37	X	76874433	76874433	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874433A>C	uc004ecp.3	-	21	5521	c.5289T>G	c.(5287-5289)AAT>AAG	p.N1763K	ATRX_uc004ecq.3_Missense_Mutation_p.N1725K|ATRX_uc004eco.3_Missense_Mutation_p.N1548K	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1763	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CCTTGATAAAATTAACCATAC	0.308			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						17	39					0	0	0.004990	0	0
NES	10763	broad.mit.edu	37	1	156639260	156639263	+	Frame_Shift_Del	DEL	CTCC	-	-			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:156639260_156639263delCTCC	uc001fpq.2	-	4	4850_4853	c.4717_4720delGGAG	c.(4717-4722)GGAGACfs	p.G1573fs		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1573_1574	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCTCGGTCTCCCTCAGAGACT	0.598													29	42	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201617945	201617946	+	In_Frame_Ins	INS	-	CGG	CGG			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:201617945_201617946insCGG	uc001gwu.2	+	1	496_497	c.149_150insCGG	c.(148-150)CCC>CCCGGC	p.55_56insG		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	55_56					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						gccaaggcgcccggcggcggcg	0.302													4	6	---	---	---	---					
OR8G2	26492	broad.mit.edu	37	11	124095915	124095915	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:124095915delC	uc010saf.1	+	1	518	c.518delC	c.(517-519)ACCfs	p.T173fs		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	173						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAATTCACACCGGCTTTATG	0.453													49	325	---	---	---	---					
