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
SPATA31A6	389730	broad.mit.edu	37	9	43627521	43627521	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:43627521G>A	ENST00000332857.6	-	4	1194	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGCTGTTTCGAGTTCTCTCC	0.483000													34	192					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:116136378G>A	ENST00000238379.5	-	2	1154	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.A86V	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	86							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617000													15	30					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699821	149699821	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:149699821C>T	ENST00000367456.1	+	4	1347	c.770C>T	c.(769-771)aCt>aTt	p.T257I	TAB2_ENST00000536230.1_Missense_Mutation_p.T225I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000538427.1_Missense_Mutation_p.T257I			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	257					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGTCCCTGGACTACTTGTCCT	0.488000													28	42					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793350	160793350	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:160793350A>T	ENST00000263285.5	+	8	1624	c.1594A>T	c.(1594-1596)Acc>Tcc	p.T532S	LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.T170S|LY9_ENST00000368035.1_Missense_Mutation_p.T170S|LY9_ENST00000368041.2_Missense_Mutation_p.T402S	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	532					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTACACCCACCTCAGACAG	0.557000													4	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr17:7579592T>C	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAGGGGGACTGTAGATGGGT	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	38					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													3	51					0	0	1	0	0
ANXA2	302	broad.mit.edu	37	15	60641330	60641330	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr15:60641330T>A	ENST00000396024.3	-	13	1063	c.904A>T	c.(904-906)Aaa>Taa	p.K302*	ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	302					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GACCTAATTTTCAACATGTCC	0.483000													3	30					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													8	70					0	0	1	0	0
GPKOW	27238	broad.mit.edu	37	X	48970825	48970825	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chrX:48970825C>T	ENST00000156109.5	-	10	1340	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	421	KOW 2.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACCATCACACGGTCACCCTC	0.602000													5	12					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102890441	102890441	+	Splice_Site	SNP	C	C	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:102890441C>G	ENST00000230792.2	-	5	1174	c.1078_splice	c.e5+1	p.G360_splice	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Splice_Site_p.G342_splice	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	360	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AATGGCTTACCAGGCTCAATA	0.313000													3	28					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95416434	95416434	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr8:95416434T>C	ENST00000336148.5	-	6	939	c.815A>G	c.(814-816)cAc>cGc	p.H272R		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACCCACTGGTGATTCTTATC	0.348000								Direct reversal of damage;Homologous recombination					13	57					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839766	15839766	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:15839766A>G	ENST00000305899.3	+	1	933	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAAGAGGACCTTCCTCAG	0.527000													3	25					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372551	126372551	+	Silent	SNP	A	A	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr4:126372551A>G	ENST00000394329.3	+	9	10393	c.10380A>G	c.(10378-10380)ggA>ggG	p.G3460G	FAT4_ENST00000335110.5_Silent_p.G1758G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3460	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCAGACAGGACAGATCACCG	0.473000													18	59					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180754	20180754	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr7:20180754G>C	ENST00000400331.5	-	7	2682	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	792					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGTATACAGAAAATCATAG	0.358000													5	30					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353579	133353579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr12:133353579C>A	ENST00000204726.3	-	20	4378	c.3820G>T	c.(3820-3822)Gag>Tag	p.E1274*	GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.E1274*|GOLGA3_ENST00000450791.2_Nonsense_Mutation_p.E1274*	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1274	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGAGCTGCTCGTCCAGCTGC	0.622000													13	9					2.27111e-07	2.58283e-07	1	1	0
GALT	2592	broad.mit.edu	37	9	34648844	34648844	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:34648844G>A	ENST00000378842.3	+	8	815	c.773G>A	c.(772-774)cGt>cAt	p.R258H	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.R149H	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	258			R -> C (in GALCT).	RR -> VG (in Ref. 1; AAC83409).	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGCTGCCCCGTCGGCATGTG	0.597000									Galactosemia				22	48					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974310	49974310	+	Silent	SNP	A	A	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:49974310A>C	ENST00000555099.1	+	1	368	c.336A>C	c.(334-336)ctA>ctC	p.L112L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGGTCATCCTACTTACTGTAA	0.428000													4	58					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386517	98386517	+	Silent	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:98386517G>A	ENST00000339364.5	-	10	1736	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	539						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGAGCAGTGGTCTCTGGTC	0.532000													3	30					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043280	71043280	+	Missense_Mutation	SNP	G	G	T	rs148473537		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:71043280G>T	ENST00000272367.2	-	4	1309	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	411					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCAGATTGCTGTCTAACATCT	0.468000													3	40					0.004672	0.00475396	1	1	0
DAK	26007	broad.mit.edu	37	11	61110228	61110228	+	Splice_Site	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:61110228C>A	ENST00000394900.3	+	10	1006	c.775_splice	c.e10-1	p.G259_splice		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	259	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TACCCGCAGGCTCCTCAGTTG	0.627000													14	23					0.00244969	0.00253718	1	1	0
ARHGAP12	94134	broad.mit.edu	37	10	32101744	32101744	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:32101744T>A	ENST00000375250.5	-	13	1993	c.1752A>T	c.(1750-1752)aaA>aaT	p.K584N	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K614N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	614					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGCTAGATACTTTAAAGGCTT	0.333000													10	35					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531758	50531758	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:50531758G>T	ENST00000374144.3	+	3	1456	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	390								p.G390R(1)		endometrium(1)	1						TGGCAAAAAAGGGAAAGAAAG	0.473000													10	33					2.17888e-05	2.34028e-05	1	1	0
RYR1	6261	broad.mit.edu	37	19	38933032	38933032	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:38933032A>T	ENST00000355481.4	+	3	340	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L|RYR1_ENST00000359596.3_Missense_Mutation_p.Q70L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	70					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCTGGAGCAGTCCCTGTCT	0.652000													15	37					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19252363	19252363	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:19252363T>C	ENST00000527884.1	-	8	1317	c.1085A>G	c.(1084-1086)cAt>cGt	p.H362R	E2F8_ENST00000250024.4_Missense_Mutation_p.H362R|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	362					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGAGTAAAATGAATGACTGG	0.418000													9	27					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15833981	15833981	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr16:15833981G>A	ENST00000338282.6	-	23	3030	c.2924C>T	c.(2923-2925)aCg>aTg	p.T975M	MYH11_ENST00000396324.3_Missense_Mutation_p.T982M|MYH11_ENST00000452625.2_Missense_Mutation_p.T982M|MYH11_ENST00000300036.5_Missense_Mutation_p.T975M|MYH11_ENST00000576790.1_Missense_Mutation_p.T975M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	975					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T975M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGCCTCAGCCGTGACCTTCTC	0.502000			T	CBFB	AML								32	58					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148765942	148765942	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:148765942T>C	ENST00000310053.5	-	17	1958	c.1765A>G	c.(1765-1767)Atc>Gtc	p.I589V	HLTF_ENST00000494055.1_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000392912.2_Missense_Mutation_p.I589V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	589	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAATTCTGGATTGGAGTACCT	0.348000													16	25					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215963501	215963501	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:215963501G>T	ENST00000366943.2	-	51	10468	c.10082C>A	c.(10081-10083)aCt>aAt	p.T3361N	USH2A_ENST00000307340.3_Missense_Mutation_p.T3361N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3361					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAAGTTCAGTCTCACAGCA	0.383000										HNSCC(13;0.011)			5	52					0.00116845	0.00123218	1	1	0
COX7A1	1346	broad.mit.edu	37	19	36641901	36641901	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:36641901A>T	ENST00000292907.3	-	4	684	c.223T>A	c.(223-225)Tcc>Acc	p.S75T	COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	75					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGGGAAGGAGGCCCAGCCA	0.532000													4	59					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284330	62284330	+	Silent	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:62284330C>A	ENST00000378024.4	-	5	17833	c.17559G>T	c.(17557-17559)gtG>gtT	p.V5853V	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5853					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCCAGGGACACCCCACTCC	0.522000													35	69					6.29468e-14	7.45085e-14	1	1	0
CD40	958	broad.mit.edu	37	20	44756996	44756996	+	Splice_Site	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:44756996A>T	ENST00000372285.3	+	8	746	c.675_splice	c.e8+1	p.K225_splice	CD40_ENST00000372276.3_Splice_Site_p.*204_splice|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	225					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCAACCAATAAGGTAGGTCAC	0.468000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80549132	80549132	+	Splice_Site	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr8:80549132G>T	ENST00000220876.7	+	2	497	c.115_splice	c.e2+1	p.D39_splice	STMN2_ENST00000518491.1_Splice_Site_p.D28_splice|STMN2_ENST00000518111.1_Splice_Site_p.D39_splice	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	39	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TACTTACGATGGTGAGTAACC	0.398000													19	39					3.51602e-12	4.07858e-12	1	1	0
ALPP	250	broad.mit.edu	37	2	233244506	233244506	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:233244506G>A	ENST00000392027.2	+	5	786	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	173						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCACACGAGTGCAGCACGC	0.657000													13	25					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530341	80530341	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:80530341G>A	ENST00000295057.3	-	2	1260	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	202						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAAGAGTTGCGCGCCAGACTC	0.587000										HNSCC(69;0.2)			10	59					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278981	47278981	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:47278981T>A	ENST00000542575.2	-	8	2040	c.1412A>T	c.(1411-1413)aAt>aTt	p.N471I	SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|FKRP_ENST00000600646.1_Intron	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	471					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACCTTCTACATTGAGGACGGT	0.552000													10	29					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675192	54675192	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr12:54675192T>C	ENST00000546500.1	+	2	653	c.38T>C	c.(37-39)cTg>cCg	p.L13P	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.L13P			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	13	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CCCGAACAGCTGAGGAAGCTC	0.483000													18	26					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762490	131762490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chrX:131762490G>A	ENST00000370836.2	-	4	1994	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370837.1_Nonsense_Mutation_p.Q381*|HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	527						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAATGGGTCTGAAGGAGCCTT	0.498000													5	13					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280790	110280790	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:110280790T>A	ENST00000540225.1	-	6	605	c.295A>T	c.(295-297)Att>Ttt	p.I99F	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	99	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCCACTCGAATCTTTTCTTCT	0.473000													3	38					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190610	53190610	+	Silent	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr16:53190610T>A	ENST00000566029.1	+	2	818	c.609T>A	c.(607-609)tcT>tcA	p.S203S	CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000398510.3_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	203					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAATGTTTCTGGTCCACATA	0.373000													26	55					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39331784	39331784	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:39331784G>C	ENST00000263408.4	-	5	704	c.609C>G	c.(607-609)atC>atG	p.I203M	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	203	MACPF.		I -> V (in dbSNP:rs13361416).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACTTCATAGATCAAAGAAG	0.398000													20	24					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77624159	77624159	+	Silent	SNP	C	C	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr18:77624159C>T	ENST00000316249.3	+	1	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	164					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796000													8	6					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581394	17581394	+	Silent	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:17581394G>T	ENST00000246069.6	+	2	361	c.15G>T	c.(13-15)gtG>gtT	p.V5V	DSTN_ENST00000543261.1_5'UTR|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	5	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CCTCAGGAGTGCAAGTAGCTG	0.323000													3	23					0.115264	0.115264	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													3	50					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598583	141598583	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:141598583G>A	ENST00000389484.3	-	30	5989	c.5018C>T	c.(5017-5019)aCg>aTg	p.T1673M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1673					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T1673K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAATTTGCGTTTCATCAAA	0.418000										TSP Lung(27;0.18)			17	45					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88651374	88651374	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:88651374G>T	ENST00000388712.3	-	7	814	c.646C>A	c.(646-648)Cca>Aca	p.P216T	GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	216						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTGTGTGTGGCAGGCCTGCT	0.582000													11	32					5.50884e-06	6.02854e-06	1	1	0
TYRP1	7306	broad.mit.edu	37	9	12695765	12695765	+	Translation_Start_Site	SNP	T	T	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:12695765T>G	ENST00000381137.2	+	0	814				TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame|TYRP1_ENST00000388918.5_Missense_Mutation_p.D212E			P17643	TYRP1_HUMAN	tyrosinase-related protein 1						melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTGAAGTGGATTTCTCTCATG	0.428000									Oculocutaneous Albinism				19	27					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101608264	101608264	+	Silent	SNP	C	C	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:101608264C>T	ENST00000375011.3	+	9	1464	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	488	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TTTAGTTTTTCGAGTACACGT	0.483000													11	12					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631095	67631095	+	Silent	SNP	G	G	A	rs148395449	by1000genomes	TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:67631095G>A	ENST00000272342.5	+	5	1411	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	427						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTAAAAATACGTCAAGAGCAA	0.333000													3	53					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99823923	99823923	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:99823923T>C	ENST00000254759.3	-	5	646	c.622A>G	c.(622-624)Att>Gtt	p.I208V	COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	208					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTCCACAATCTCTTCCAGG	0.403000													4	75					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248542	49248542	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:49248542T>A	ENST00000332955.2	-	3	786	c.239A>T	c.(238-240)gAg>gTg	p.E80V		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	80					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAGTGTGGCCTCATCTGTCAG	0.498000													3	24					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815069	31815069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:31815069G>A	ENST00000419022.1	-	12	1459	c.991C>T	c.(991-993)Cga>Tga	p.R331*	PAX6_ENST00000379129.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000379111.2_Nonsense_Mutation_p.R317*|PAX6_ENST00000379115.4_Nonsense_Mutation_p.R331*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.R317*|PAX6_ENST00000379132.3_Nonsense_Mutation_p.R317*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.R317*	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	317	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTGTCTGTTCGGCCCAACATG	0.532000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				11	33					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164712161	164712161	+	Frame_Shift_Del	DEL	A	A	-	rs148726149		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:164712161delA	ENST00000264382.3	-	41	4787	c.4725delT	c.(4723-4725)ttfs	p.F1575fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1575	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACATTTCAGCAAAAGTTTCAT	0.328										HNSCC(35;0.089)			7	187	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													4	4	---	---	---	---					
APC2	10297	broad.mit.edu	37	19	1465425	1465425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:1465425delG	ENST00000535453.1	+	14	3838	c.2125delG	c.(2125-2127)tgfs	p.V709fs	APC2_ENST00000238483.4_Frame_Shift_Del_p.V435fs|APC2_ENST00000233607.2_Frame_Shift_Del_p.V709fs|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	709					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCGCCGTGTCCCCAGG	0.731													2	4	---	---	---	---