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
ZNF761	388561	broad.mit.edu	37	19	53959342	53959342	+	RNA	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:53959342C>T	ENST00000454407.1	+	0	2034							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTAATGAGTGCGGCAAGACCT	0.443000													5	159					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913012	67913012	+	Silent	SNP	C	C	T	rs146270915		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr16:67913012C>T	ENST00000358933.5	+	12	1679	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	480					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCTGCCTGCCGAAGAGGAAA	0.592000													3	50					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346497	29346497	+	Missense_Mutation	SNP	C	C	T	rs143649138	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:29346497C>T	ENST00000558402.1	+	5	1009	c.410C>T	c.(409-411)gCg>gTg	p.A137V	APBA2_ENST00000411764.1_Missense_Mutation_p.A137V|APBA2_ENST00000561069.1_Missense_Mutation_p.A137V|APBA2_ENST00000558330.1_Missense_Mutation_p.A137V|APBA2_ENST00000558259.1_Missense_Mutation_p.A137V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	137					nervous system development|protein transport		protein binding	p.A137V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGCCAGGAGGCGGTGGAGGAG	0.662000													6	73					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415540	61415540	+	Silent	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:61415540A>G	ENST00000398571.2	-	80	10414	c.10338T>C	c.(10336-10338)gaT>gaC	p.D3446D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3446					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTCTTTACAATCGTCATATC	0.408000													11	88					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22412991	22412991	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:22412991G>T	ENST00000344548.3	+	5	489	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	CDC42_ENST00000421089.2_Missense_Mutation_p.V122F|CDC42_ENST00000400259.1_Missense_Mutation_p.V80F|CDC42_ENST00000315554.8_Missense_Mutation_p.V80F|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	80					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGTATTTCTAGTCTGTTTTTC	0.368000													12	62					2.31682e-05	2.53134e-05	1	1	0
SEC22C	9117	broad.mit.edu	37	3	42594851	42594851	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:42594851G>A	ENST00000264454.3	-	7	944	c.801C>T	c.(799-801)caC>caT	p.H267H	SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000273156.7_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	267					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCCTCAGCCCGTGCAGGTACA	0.463000													4	65					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	47					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16979755	16979755	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:16979755C>A	ENST00000377833.4	-	39	5827	c.5762G>T	c.(5761-5763)cGc>cTc	p.R1921L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1921	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R1921L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAATTAGGCGGGCGTGAAT	0.358000													4	42					0.014758	0.0152758	1	1	0
KIAA0586	9786	broad.mit.edu	37	14	59014653	59014653	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr14:59014653G>T	ENST00000354386.6	+	34	5138	c.4894G>T	c.(4894-4896)Ggg>Tgg	p.G1632W	KIAA0586_ENST00000261244.5_3'UTR|KIAA0586_ENST00000556134.1_3'UTR|KIAA0586_ENST00000423743.3_3'UTR	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTTCTGAACGGGAAGAGACA	0.483000													5	63					8.12818e-05	8.71932e-05	1	1	0
AMY2B	280	broad.mit.edu	37	1	104120352	104120352	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:104120352A>C	ENST00000361355.4	+	11	1847	c.1231A>C	c.(1231-1233)Aat>Cat	p.N411H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	411					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAACATGGTTAATTTCCGCAA	0.348000													22	267					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712689	140712689	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:140712689A>C	ENST00000378105.3	+	1	2438	c.2438A>C	c.(2437-2439)gAa>gCa	p.E813A	PCDHGA1_ENST00000517417.1_Intron	NM_031993.1	NP_114382.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTGATGAATGTATCAGC	0.368000													6	51					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405201	130405201	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:130405201G>C	ENST00000356763.3	-	15	3886	c.3329C>G	c.(3328-3330)tCt>tGt	p.S1110C	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1110					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCAAGAACAGACTGTGCTCC	0.468000													5	73					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139135747	139135747	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:139135747G>C	ENST00000280612.5	-	6	1062	c.783C>G	c.(781-783)aaC>aaG	p.N261K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	261					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACTTTTCAGGGTTTTCTACTT	0.259000													5	60					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													3	35					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	45					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63836691	63836691	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:63836691C>A	ENST00000371108.4	+	2	348	c.43C>A	c.(43-45)Cta>Ata	p.L15I	ALG6_ENST00000263440.4_Missense_Mutation_p.L15I	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	15					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTAATAGGACTAACAGTACG	0.343000													5	74					0.000602214	0.000634476	1	1	0
BBX	56987	broad.mit.edu	37	3	107497354	107497354	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:107497354A>G	ENST00000415149.2	+	13	2518	c.2191A>G	c.(2191-2193)Aaa>Gaa	p.K731E	BBX_ENST00000406780.1_Missense_Mutation_p.K731E|BBX_ENST00000416476.2_Silent_p.L394L|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000325805.8_Missense_Mutation_p.K731E|BBX_ENST00000402543.1_Missense_Mutation_p.K731E	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	731	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAACCGACTAAAACCAGCAA	0.448000													6	80					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8098826	8098826	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:8098826C>T	ENST00000296372.8	-	3	480	c.338_splice	c.e3+1	p.R113_splice	ABLIM2_ENST00000341937.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000361737.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000545242.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000407564.3_Splice_Site_p.R113_splice|ABLIM2_ENST00000546334.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000428004.2_Splice_Site_p.R113_splice|ABLIM2_ENST00000361581.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000447017.2_Splice_Site_p.R113_splice|ABLIM2_ENST00000505872.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000318888.4_5'UTR			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	113	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTTACTCACCGGCAGACGGC	0.642000													3	25					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979438	230979438	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:230979438G>A	ENST00000366663.5	-	3	729	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	C1orf198_ENST00000470540.1_Missense_Mutation_p.R159W|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.R67W	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	197										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTCGGGACCGCTCAGCATTG	0.637000													4	136					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22204945	22204945	+	Silent	SNP	G	G	A	rs144974575		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:22204945G>A	ENST00000374695.3	-	20	2677	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	866	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCACTTCCCGCCGGGCTGGA	0.682000													3	19					0	0	1	0	0
GYPC	2995	broad.mit.edu	37	2	127453589	127453589	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:127453589G>A	ENST00000259254.4	+	4	589	c.258G>A	c.(256-258)cgG>cgA	p.R86R	GYPC_ENST00000409836.3_Silent_p.R67R|GYPC_ENST00000356887.7_Silent_p.R65R|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	86						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		ACATGTACCGGCACAAGGGCA	0.597000													5	129					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557364	40557364	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:40557364G>A	ENST00000357037.5	-	2	933	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GACTCTTTCAGCGATTTGCTG	0.647000													21	188					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								4	68					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37486094	37486094	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:37486094C>T	ENST00000377798.4	+	1	163	c.50C>T	c.(49-51)cCc>cTc	p.P17L	POLR1E_ENST00000442009.2_5'UTR	NM_022490.1	NP_071935.1	Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	84					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGTGGGGCGCCCGACGGGAGC	0.622000													3	10					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47086822	47086822	+	Silent	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:47086822A>G	ENST00000374312.1	+	3	458	c.39A>G	c.(37-39)aaA>aaG	p.K13K	NPY4R_ENST00000395716.1_Silent_p.K13K	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGCTCCCAAAATCTCCACAAG	0.488000													5	107					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229730404	229730404	+	Silent	SNP	G	G	A	rs144756502		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:229730404G>A	ENST00000258281.2	-	5	1575	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	TAF5L_ENST00000366676.1_Silent_p.P470P	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	470					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGAAAGCACGGGGCCACGGT	0.592000													4	143					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47853953	47853953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:47853953G>A	ENST00000507489.1	-	21	2604	c.2428C>T	c.(2428-2430)Cag>Tag	p.Q810*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.Q810*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	810						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTGTTGCACTGCAATTCCTAC	0.363000													5	76					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66220800	66220800	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:66220800G>A	ENST00000409699.2	-	13	1810	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MEGF11_ENST00000422354.1_Silent_p.P546P|MEGF11_ENST00000288745.3_Silent_p.P471P|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.P546P|MEGF11_ENST00000395625.2_Silent_p.P471P			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	546						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCTGTGACGGGGTCACATC	0.542000													7	64					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563822	1563822	+	Silent	SNP	G	G	A	rs148287873	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:1563822G>A	ENST00000572621.1	-	29	4954	c.4689C>T	c.(4687-4689)caC>caT	p.H1563H	PRPF8_ENST00000304992.6_Silent_p.H1563H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGATCTTGCCGTGCATGAAGA	0.498000													6	291					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417876	46417876	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:46417876G>A	ENST00000341294.2	-	1	160	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	26					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTTTGACCCCGACTTGCGATC	0.662000													7	51					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	19					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897097	48897097	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:48897097C>T	ENST00000394754.1	+	9	3441	c.3327C>T	c.(3325-3327)gaC>gaT	p.D1109D	STON1-GTF2A1L_ENST00000309827.2_Silent_p.D1109D|GTF2A1L_ENST00000430487.2_Silent_p.D371D|GTF2A1L_ENST00000403751.3_Silent_p.D405D|STON1-GTF2A1L_ENST00000405008.1_Silent_p.D1109D|STON1-GTF2A1L_ENST00000402114.2_Silent_p.D1109D|STON1-GTF2A1L_ENST00000394751.3_Silent_p.D1062D	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1062					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAATGAAGACCCTCAAGTAA	0.373000													6	57					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49926891	49926891	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:49926891G>T	ENST00000251250.6	+	5	774	c.567G>T	c.(565-567)ttG>ttT	p.L189F	DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.L102F|DTWD1_ENST00000558653.1_Missense_Mutation_p.L189F|DTWD1_ENST00000403028.3_Missense_Mutation_p.L189F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	189										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TCTGTGATTTGAATGACAGCA	0.348000													11	77					1.58986e-06	1.76985e-06	1	1	0
OR1J4	26219	broad.mit.edu	37	9	125281470	125281470	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:125281470C>T	ENST00000340750.1	+	1	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCCTGGACCTCCCCATCTGGC	0.542000													11	120					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13914004	13914004	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:13914004A>G	ENST00000265104.4	-	11	1488	c.1384T>C	c.(1384-1386)Ttt>Ctt	p.F462L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	462	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTAAAATCAAATTGTTTTGCA	0.328000									Kartagener syndrome				8	29					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133472485	133472485	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:133472485A>C	ENST00000402696.3	+	3	748	c.263A>C	c.(262-264)gAt>gCt	p.D88A	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	88	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTGGTGTATGATGCTTACCTG	0.527000													6	92					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140442090	140442090	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:140442090C>T	ENST00000406427.1	-	2	388	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	PNPLA7_ENST00000277531.4_Intron	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	10					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAGTGCAGGGCGGTGCCCAGG	0.627000													9	113					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402927	133402927	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:133402927C>T	ENST00000329321.3	+	2	1579	c.1110C>T	c.(1108-1110)caC>caT	p.H370H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	370						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACGCCAACCACGAGAAGCGCC	0.667000													9	65					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9775848	9775848	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:9775848G>A	ENST00000383829.2	+	2	428	c.24G>A	c.(22-24)aaG>aaA	p.K8K	BRPF1_ENST00000433861.2_Silent_p.K8K|BRPF1_ENST00000457855.1_Silent_p.K8K|BRPF1_ENST00000302054.3_Silent_p.K8K|BRPF1_ENST00000424362.1_Silent_p.K8K	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	8					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGATGTGAAGACTTTCTGCC	0.517000													4	71					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:7577100T>C	ENST00000420246.2	-	8	970	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000269305.4_Missense_Mutation_p.R280G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CGCCGGTCTCTCCCAGGACAG	0.542000		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)			7	45					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44802519	44802519	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:44802519G>A	ENST00000309315.4	+	12	1759	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V546I|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V520I|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V488I|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V514I	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	546					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCGCCCATCCGTCCGCTCGGT	0.647000													6	369					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5784212	5784212	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:5784212A>G	ENST00000328090.5	+	14	3105	c.2480A>G	c.(2479-2481)aAt>aGt	p.N827S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	827																	GTGTCTATAAATAGCACGTTA	0.413000													5	83					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725357	38725357	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:38725357C>T	ENST00000409072.3	-	2	1183	c.249G>A	c.(247-249)ccG>ccA	p.P83P						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						TCTGTGCCTCCGGGTACTTCT	0.552000													4	146					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173527	126173527	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:126173527A>T	ENST00000339582.2	-	9	2717	c.1909T>A	c.(1909-1911)Ttt>Att	p.F637I	GRM8_ENST00000444921.2_Missense_Mutation_p.F637I|GRM8_ENST00000358373.3_Missense_Mutation_p.F637I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	637					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATCATTAAAAACGTGATTGAA	0.463000										HNSCC(24;0.065)			6	65					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378644	28378644	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:28378644T>C	ENST00000337532.5	-	13	1355	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	MPP7_ENST00000445954.2_Missense_Mutation_p.Y235C|MPP7_ENST00000375732.1_Missense_Mutation_p.Y360C|MPP7_ENST00000375719.3_Missense_Mutation_p.Y360C|MPP7_ENST00000540098.1_Missense_Mutation_p.Y360C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	360					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGTCGCCGATACGGTGTCAC	0.383000													15	140					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328223	80328223	+	Silent	SNP	C	C	T	rs138628835		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr14:80328223C>T	ENST00000281127.7	+	6	2094	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	NRXN3_ENST00000335750.5_Silent_p.N1034N|NRXN3_ENST00000554719.1_Silent_p.N1034N|NRXN3_ENST00000428277.2_Silent_p.N432N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.N610N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	610					angiogenesis|cell adhesion	integral to membrane		p.N432N(1)|p.N1034N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCAGAGCAACGGCACGCTCA	0.527000													7	40					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63543951	63543951	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr12:63543951G>A	ENST00000299178.2	-	1	771	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	222					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAAAGATGCCGCCCGTCATCC	0.612000													12	130					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815556	82815556	+	Silent	SNP	C	C	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:82815556C>A	ENST00000265077.3	+	7	1996	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	VCAN_ENST00000342785.4_Silent_p.V477V|VCAN_ENST00000512590.2_Silent_p.V429V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	477	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGGATGGTGTCGTGGAAGATA	0.413000													5	116					0.217242	0.220988	1	1	0
TTLL12	23170	broad.mit.edu	37	22	43576832	43576832	+	Silent	SNP	G	G	A	rs142812212	by1000genomes	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr22:43576832G>A	ENST00000216129.6	-	3	525	c.462C>T	c.(460-462)caC>caT	p.H154H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	154					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCAGCTCACCGTGGAACTCAA	0.652000													4	139					0	0	1	0	0
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													2	4	---	---	---	---					
INCENP	3619	broad.mit.edu	37	11	61919392	61919392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr11:61919392delC	ENST00000394818.3	+	19	2903	c.2701delC	c.(2701-2703)ccfs	p.P901fs	INCENP_ENST00000278849.4_Frame_Shift_Del_p.P897fs	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	901					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACTCACCGCCCCTGCAGGG	0.612													12	51	---	---	---	---					
VAV1	7409	broad.mit.edu	37	19	6826656	6826656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:6826656delG	ENST00000304076.2	+	9	955	c.861delG	c.(859-861)gtfs	p.V287fs	VAV1_ENST00000596764.1_Frame_Shift_Del_p.V255fs|VAV1_ENST00000539284.1_Frame_Shift_Del_p.V190fs|VAV1_ENST00000602142.1_Frame_Shift_Del_p.V287fs|VAV1_ENST00000599806.1_Frame_Shift_Del_p.V232fs	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	287	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCAGCCAGGTGGAGTCAGCCA	0.652													2	4	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920666	49920668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:49920666_49920668delCTG	ENST00000447857.3	+	20	1793_1795	c.1588_1590delCTG	c.(1588-1590)del	p.L536del		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	536	Poly-Leu.					integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGTCCTGGGCctgctgctgctgc	0.650													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085835	11085837	+	RNA	DEL	CAT	CAT	-	rs151194290	by1000genomes	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr21:11085835_11085837delCAT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccatcaccatcaccaccacc	0.586													2	4	---	---	---	---