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
USP40	55230	broad.mit.edu	37	2	234408535	234408535	+	Silent	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:234408535A>G	ENST00000251722.6	-	22	2754	c.2637T>C	c.(2635-2637)tcT>tcC	p.S879S	USP40_ENST00000427112.2_Silent_p.S879S|USP40_ENST00000409945.1_Silent_p.S55S|USP40_ENST00000450966.1_Silent_p.S891S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	879					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTGTAGGCCAGATTTCTTCA	0.308000													11	17					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													4	86					1.23904e-05	1.29712e-05	1	1	0
TACC2	10579	broad.mit.edu	37	10	123976221	123976221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:123976221C>T	ENST00000369005.1	+	11	7764	c.7424C>T	c.(7423-7425)gCg>gTg	p.A2475V	TACC2_ENST00000515273.1_Missense_Mutation_p.A2479V|TACC2_ENST00000360561.3_Missense_Mutation_p.A553V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2430V|TACC2_ENST00000369004.3_Missense_Mutation_p.A565V|TACC2_ENST00000260733.3_Missense_Mutation_p.A553V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2479V|TACC2_ENST00000369000.1_Missense_Mutation_p.A175V|TACC2_ENST00000369001.1_Missense_Mutation_p.A179V|TACC2_ENST00000334433.3_Missense_Mutation_p.A2475V|TACC2_ENST00000358010.1_Missense_Mutation_p.A621V|TACC2_ENST00000513429.1_Missense_Mutation_p.A621V|TACC2_ENST00000368999.1_Missense_Mutation_p.A565V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2475						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAAAGCTGGCGGTCACCAAC	0.567000													4	143					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68385203	68385203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:68385203G>A	ENST00000263657.2	+	1	228	c.137G>A	c.(136-138)cGc>cAc	p.R46H		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	46						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						GATGCGGGCCGCATGGACACA	0.677000													3	31					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102516460	102516460	+	RNA	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr15:102516460G>T	ENST00000557932.1	+	0	1408																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGGACGACTGGGAATCCTAGG	0.647000													5	50					0.000157383	0.000159768	1	1	0
RASSF9	9182	broad.mit.edu	37	12	86199245	86199245	+	Silent	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:86199245A>G	ENST00000361228.3	-	2	911	c.543T>C	c.(541-543)gaT>gaC	p.D181D		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	181					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCATATTATCTCGATCAT	0.373000													17	104					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159537147	159537147	+	Silent	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:159537147T>C	ENST00000389757.3	+	21	3533	c.3408T>C	c.(3406-3408)taT>taC	p.Y1136Y	PKP4_ENST00000389759.3_Silent_p.Y1179Y|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1179					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCTTCTTATAGAGCAGAAC	0.428000										HNSCC(62;0.18)			46	79					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122745948	122745948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:122745948G>A	ENST00000267199.4	-	4	455	c.343C>T	c.(343-345)Cca>Tca	p.P115S	VPS33A_ENST00000451053.2_Missense_Mutation_p.P115S|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P115S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	115					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTACGGCGTGGCACAAACAGA	0.468000													4	102					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357057	89357057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357057C>T	ENST00000301030.4	-	6	1037	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D193N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	193						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGTTGACGTCTGCCCCCTCG	0.652000													19	111					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539710	52539710	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:52539710C>T	ENST00000321725.6	+	15	1684	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	536	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCTGGACGGACCTGGGC	0.637000													19	42					0	0	1	0	0
SETD8	387893	broad.mit.edu	37	12	123889487	123889487	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:123889487G>A	ENST00000402868.3	+	7	1140	c.714G>A	c.(712-714)cgG>cgA	p.R238R	SETD8_ENST00000330479.4_Silent_p.R238R			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	279					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTTCTCCCGGGGTGACTTTG	0.547000													38	55					0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370325	6370325	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr7:6370325C>G	ENST00000313324.4	-	2	928	c.461G>C	c.(460-462)cGa>cCa	p.R154P		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	154						nucleus											GCGTGGCAGTCGTGACACCCG	0.612000													26	41					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104353823	104353823	+	Splice_Site	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:104353823G>T	ENST00000369902.3	+	6	922		c.e6+1		SUFU_ENST00000423559.2_Splice_Site|SUFU_ENST00000471000.1_Splice_Site|SUFU_ENST00000369899.2_Splice_Site	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)						negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACCTGCAAGTATGTCTTGA	0.502000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				36	68					1.836e-18	1.98407e-18	1	1	0
IGKV3-20	0	broad.mit.edu	37	2	89442586	89442586	+	RNA	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:89442586T>C	ENST00000492167.1	-	0	57																											GCGCTGGGGTTTCCATGGTTC	0.562000													45	91					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537000													5	178					0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729609	227729609	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:227729609G>A	ENST00000392062.2	+	4	724	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RHBDD1_ENST00000341329.3_Missense_Mutation_p.R67H	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	67						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGGCAGCGTTTACTGCTC	0.453000													30	72					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139726181	139726181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:139726181A>G	ENST00000371675.3	+	6	1007	c.122A>G	c.(121-123)aAt>aGt	p.N41S	RABL6_ENST00000371663.4_Missense_Mutation_p.N156S|RABL6_ENST00000371671.4_Missense_Mutation_p.N156S|RABL6_ENST00000357466.2_Missense_Mutation_p.N156S|RABL6_ENST00000311502.7_Missense_Mutation_p.N156S|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.N118S					RAB, member RAS oncogene family-like 6																		AGGACCTTCAATTACATTCTC	0.622000													18	73					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394931	233394931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:233394931C>T	ENST00000258229.8	-	5	911	c.677G>A	c.(676-678)gGt>gAt	p.G226D	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	226						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCCTTTACCATTGATGAG	0.507000													48	70					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	48					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393000													11	183					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848084	61848084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:61848084G>A	ENST00000280772.1	-	29	3552	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ANK3_ENST00000503366.1_Missense_Mutation_p.R1122C|ANK3_ENST00000373827.2_Missense_Mutation_p.R1115C|ANK3_ENST00000355288.2_Missense_Mutation_p.R255C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1121					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCAGATACGCTTTTTCCCT	0.398000													8	60					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718275	2718275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:2718275G>A	ENST00000382082.3	+	1	774	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGTGTCCGCGCCGCTTCCTG	0.647000													18	19					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97909606	97909606	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:97909606A>G	ENST00000420699.2	+	70	4653	c.4409A>G	c.(4408-4410)aAg>aGg	p.K1470R	ANKRD36_ENST00000461153.2_Missense_Mutation_p.K1470R	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1470										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAAGAAAAAAAGAAAAGAAGA	0.313000													3	34					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001075	58001075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:58001075G>T	ENST00000564448.1	-	2	176	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	CNGB1_ENST00000251102.8_Missense_Mutation_p.P39Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.P39Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	39	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATTCGGTTCTGGTTCCACCTC	0.642000													44	64					2.68985e-26	3.00367e-26	1	1	0
ZG16B	124220	broad.mit.edu	37	16	2881941	2881941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:2881941C>A	ENST00000382280.3	+	4	487	c.408C>A	c.(406-408)taC>taA	p.Y136*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Y106*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	136						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGTCATGTACACCAGCAAGG	0.547000													6	68					3.59834e-05	3.70905e-05	1	1	0
CASKIN2	57513	broad.mit.edu	37	17	73498548	73498548	+	Silent	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:73498548C>G	ENST00000321617.3	-	18	3193	c.2607G>C	c.(2605-2607)ccG>ccC	p.P869P	CASKIN2_ENST00000433559.2_Silent_p.P787P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	869	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ggggcgggggcggggggccTT	0.726000													3	3					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													7	71					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156144932	156144932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:156144932G>T	ENST00000368285.3	+	13	1757	c.1490G>T	c.(1489-1491)tGt>tTt	p.C497F	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.C365F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.C365F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.C497F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.C497F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	497	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGAGCCAACTGTAGTGTCTAT	0.602000													37	322					7.04047e-22	7.73298e-22	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								19	41					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065858	40065858	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:40065858G>A	ENST00000352035.2	-	5	571	c.441C>T	c.(439-441)gcC>gcT	p.A147A	ACLY_ENST00000393896.2_Silent_p.A147A|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.A147A|ACLY_ENST00000353196.1_Silent_p.A147A	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	147					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTGGGCCTTGGCGTCCACAT	0.547000													10	66					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357151	89357151	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357151C>T	ENST00000301030.4	-	6	943	c.483G>A	c.(481-483)gtG>gtA	p.V161V	ANKRD11_ENST00000378330.2_Silent_p.V161V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	161						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTCTTGTTCACTTTATCTT	0.592000													19	115					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47575765	47575765	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:47575765G>A	ENST00000359314.5	+	15	2088		c.e15+1		CD2AP_ENST00000486693.1_Splice_Site	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTCTCCAAAGGTGAGGTGCAT	0.383000													21	32					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739449	28739449	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr18:28739449C>G	ENST00000257197.3	-	2	368	c.107G>C	c.(106-108)cGa>cCa	p.R36P	DSC1_ENST00000257198.5_Missense_Mutation_p.R36P|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	36					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAGGAACTCGAAGATAAAC	0.338000													19	23					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188705	98188705	+	Silent	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:98188705T>C	ENST00000332650.5	+	1	382	c.285T>C	c.(283-285)taT>taC	p.Y95Y		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCCCTCTATGAATGTGCAG	0.438000													5	179					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919611	70919611	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:70919611C>G	ENST00000264436.3	-	7	1073	c.629G>C	c.(628-630)tGt>tCt	p.C210S	ADD2_ENST00000413157.2_Missense_Mutation_p.C210S|ADD2_ENST00000407644.2_Missense_Mutation_p.C210S|ADD2_ENST00000355733.3_Missense_Mutation_p.C210S|ADD2_ENST00000430656.1_Missense_Mutation_p.C226S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	210					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGAGTGCAGACAGAAGCCTGT	0.597000													3	34					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114443970	114443970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:114443970G>A	ENST00000369569.1	-	4	785	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.R169C|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGGTCACGCAGCAAACTG	0.413000													14	62					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132392064	132392064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:132392064G>A	ENST00000321867.4	+	5	655	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	102	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGACCTGGCCGACTACCTGCA	0.711000													4	31					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912498	76912498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:76912498G>A	ENST00000409709.3	+	36	5130	c.4858G>A	c.(4858-4860)Gag>Aag	p.E1620K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E1571K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E1582K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1620	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACAGCAGGCGAGGAGTCAGG	0.567000													8	17					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508226	37508226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:37508226G>T	ENST00000374660.1	+	40	3874	c.3775G>T	c.(3775-3777)Gaa>Taa	p.E1259*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E1140*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.E1140*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGAAATTGAATCACACCA	0.393000													26	64					2.41591e-17	2.5693e-17	1	1	0
PNP	4860	broad.mit.edu	37	14	20940627	20940627	+	Nonsense_Mutation	SNP	C	C	T	rs104894460		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:20940627C>T	ENST00000361505.5	+	2	318	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	58					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CAACTTTCCCCGAAGTACAGG	0.468000													16	18					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56421928	56421928	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:56421928C>T	ENST00000588751.1	-	6	2307		c.e6+1		NLRP13_ENST00000342929.3_Splice_Site			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13								ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCACACTTACGTCAGTTTCT	0.458000													17	40					0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573801	86573801	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr8:86573801G>A	ENST00000379010.2	-	1	1925	c.1926C>T	c.(1924-1926)gaC>gaT	p.D642D		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	642						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						AGGCGCTTGCGTCCTCGCTGG	0.667000													5	185					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524708	35524708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:35524708G>A	ENST00000415950.3	+	3	513	c.513G>A	c.(511-513)tgG>tgA	p.W171*	SCN1B_ENST00000262631.5_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000595652.1_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	49					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGACAGATGGCAGGCAGTGG	0.647000													31	51					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	897822	897822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:897822G>A	ENST00000338591.3	+	5	906	c.799G>A	c.(799-801)Gtg>Atg	p.V267M		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	267	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAACACGACGTGGACGCCCG	0.677000													12	74					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112865	57112865	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:57112865G>C	ENST00000454682.1	-	3	2730	c.2449C>G	c.(2449-2451)Cct>Gct	p.P817A	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGTATCAGGGCCAGCAGAA	0.458000			T	BCL6	NHL								14	18					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6636155	6636155	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:6636155G>C	ENST00000315579.5	+	22	3632	c.2833G>C	c.(2833-2835)Gtg>Ctg	p.V945L	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V900L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	945					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAGCAGGCAGTGAGTGGAGA	0.592000													139	113					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876675	45876675	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr21:45876675T>C	ENST00000291592.4	+	2	465	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	50	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCTGTCTTCTGCAGCTTGCG	0.677000													25	39					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185969241	185969241	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:185969241C>T	ENST00000271588.4	+	26	4168	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G	HMCN1_ENST00000367492.2_Silent_p.G1313G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1313	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGCCTGGCATTTCTATCT	0.413000													16	37					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32360543	32360543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr13:32360543C>T	ENST00000298386.2	+	12	1024	c.953C>T	c.(952-954)aCg>aTg	p.T318M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T294M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	318						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATACGATAACGGAACTATCA	0.358000													19	32					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467457	25467457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:25467457C>T	ENST00000264709.3	-	14	1956	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	DNMT3A_ENST00000321117.5_Missense_Mutation_p.C540Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.C317Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C351Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	540	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCACAGCAGATGGTGCA	0.602000			"""Mis, F, N, S"""		AML								23	31					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792434	792434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:792434G>T	ENST00000320230.5	-	8	1093	c.612C>A	c.(610-612)taC>taA	p.Y204*	SLC25A22_ENST00000531214.1_Nonsense_Mutation_p.Y204*	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	204						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	AGAGCGGGAAGTACACCACAG	0.682000													4	140					1	1	1	1	0
PTER	9317	broad.mit.edu	37	10	16547111	16547111	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:16547111A>G	ENST00000378000.1	+	5	1037	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	PTER_ENST00000298942.3_Missense_Mutation_p.Q264R|PTER_ENST00000423462.2_Intron|PTER_ENST00000535784.2_Missense_Mutation_p.Q264R	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	264					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTTCATTACCAACTCGGCCCA	0.393000													46	66					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140946556	140946556	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:140946556G>A	ENST00000277549.5	+	26	3880	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	CACNA1B_ENST00000371363.1_Silent_p.G1241G|CACNA1B_ENST00000371372.1_Silent_p.G1241G|CACNA1B_ENST00000277551.2_Silent_p.G1241G|CACNA1B_ENST00000371355.4_Silent_p.G1242G|CACNA1B_ENST00000371357.1_Silent_p.G1242G			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1241					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATCCAAAGGGAAAGACATCA	0.577000													9	17					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344600	23344600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:23344600T>C	ENST00000359591.4	+	5	1134	c.443T>C	c.(442-444)cTg>cCg	p.L148P	LRP10_ENST00000546834.1_Missense_Mutation_p.L148P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	148	LDL-receptor class A 1.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTTCAGTGCCTGAACCACCGC	0.592000													4	131					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78415595	78415595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:78415595A>G	ENST00000397909.2	+	9	2149	c.1976A>G	c.(1975-1977)gAc>gGc	p.D659G	NAV3_ENST00000536525.2_Missense_Mutation_p.D659G|NAV3_ENST00000228327.6_Missense_Mutation_p.D659G|NAV3_ENST00000266692.7_Missense_Mutation_p.D659G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	659						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAAGATGGACTTATCATAT	0.418000										HNSCC(70;0.22)			39	53					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151932981	151932981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr7:151932981C>T	ENST00000355193.2	-	16	2908	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.R897Q					lysine (K)-specific methyltransferase 2C																		TCCTGCACCTCGAGGTCTCCG	0.488000													4	103					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160321849	160321851	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:160321849_160321851delTAG	ENST00000368063.1	+	9	1069_1071	c.789_791delTAG	c.(787-792)gat>ga	p.DS263del	NCSTN_ENST00000392212.4_In_Frame_Del_p.DS263del|NCSTN_ENST00000368065.4_In_Frame_Del_p.DS25del|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000294785.5_In_Frame_Del_p.DS283del|NCSTN_ENST00000459963.1_3'UTR			Q92542	NICA_HUMAN	nicastrin	283					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTAGCTGGATAGTCGTTCCTTT	0.488													23	73	---	---	---	---					
RFWD2	64326	broad.mit.edu	37	1	175957522	175957523	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:175957522_175957523delCA	ENST00000367669.3	-	17	2387_2388	c.1873_1874delTG	c.(1873-1875)gfs	p.W625fs	RFWD2_ENST00000308769.8_Frame_Shift_Del_p.W601fs	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAGC	0.391													19	22	---	---	---	---					
IL19	29949	broad.mit.edu	37	1	207010002	207010005	+	Splice_Site	DEL	GCAG	GCAG	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:207010002_207010005delGCAG	ENST00000270218.6	+	3	937		c.e3-1		IL19_ENST00000340758.2_Splice_Site	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19						apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTCCTTTCTGCAGGCATGAAGTT	0.510													24	82	---	---	---	---					
RP11-440G9.1	0	broad.mit.edu	37	6	142860299	142860299	+	RNA	DEL	T	T	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:142860299delT	ENST00000447311.1	-	0	364					NR_027312.1																						taggccagtatttttttttta	0.473													3	5	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	-	GCCGCC			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													6	13	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	4	---	---	---	---					
SPPL2C	162540	broad.mit.edu	37	17	43922307	43922309	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:43922307_43922309delTCC	ENST00000329196.5	+	1	52_54	c.35_37delTCC	c.(34-39)ttc>t	p.FL12del	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	12						integral to membrane	aspartic-type endopeptidase activity										CCCGTGGGCTTCCTCCTCCTCAT	0.626													23	66	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938084	76938085	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chrX:76938084_76938085insA	ENST00000373344.5	-	9	2877_2878	c.2663_2664insT	c.(2662-2664)ttcfs	p.F888fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F850fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	888					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCTGAAGAGAAAGTCTCTCT	0.421			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						98	50	---	---	---	---