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
MT-ND4	4538	broad.mit.edu	37	MT	11825	11825	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:11825G>A	ENST00000361381.2	+	1	1066	c.1066G>A	c.(1066-1068)Gct>Act	p.356_356insT						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TCCCACTAATAGCTTTTTGAT	0.458000													9	55					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205031674	205031674	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:205031674C>T	ENST00000331830.4	+	10	1501	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	406	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCATCTACGCCAGCGCCGAG	0.582000													42	39					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699812	136699812	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:136699812G>C	ENST00000445907.2	+	3	728	c.200G>C	c.(199-201)tGt>tCt	p.C67S	AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C67S|CHRM2_ENST00000397608.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	67					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGCTTGGCCTGTGCTGACCTT	0.458000													15	184					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890604	32890604	+	RNA	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:32890604C>G	ENST00000330048.5	-	0	3194					NR_003083.2																						CACCCCACCACGGGTACACGT	0.597000													8	4					0	0	1	0	0
MIR521-2	0	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:54219926C>T	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													50	58					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898502	50898502	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:50898502T>C	ENST00000380817.2	-	26	3553	c.3370A>G	c.(3370-3372)Agg>Ggg	p.R1124G	SBF1_ENST00000390679.3_Missense_Mutation_p.R1124G|SBF1_ENST00000348911.6_Missense_Mutation_p.R1125G	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1124	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAAGCCCTTTCCACCAGG	0.672000													55	5					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161277800	161277800	+	Splice_Site	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:161277800A>T	ENST00000428797.2	+	3	340		c.e3-1		GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCTACTTTTCAGCTGCTCCAG	0.488000													11	46					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195701285	195701285	+	RNA	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:195701285G>T	ENST00000427841.1	-	0	1539					NR_003264.2																						GCACGACTCTGCGATGCTCAG	0.537000													4	55					3.59834e-05	3.86821e-05	1	1	0
UPF3B	0	broad.mit.edu	37	X	118971901	118971901	+	Missense_Mutation	SNP	C	C	T	rs143538947	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:118971901C>T	ENST00000276201.2	-	10	1190	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	UPF3B_ENST00000345865.2_Missense_Mutation_p.R361H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	374	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTTCTGCCTACGGCGCTCTTC	0.463000													4	141					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	60					0	0	1	0	0
IGHA1	0	broad.mit.edu	37	14	106174357	106174357	+	RNA	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:106174357G>T	ENST00000390547.2	-	0	431																											TGCACGTGAGGTTCGCTTCTG	0.617000													9	11					2.17888e-05	2.37194e-05	1	1	0
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			50	60					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833169	116833169	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:116833169A>T	ENST00000368599.3	+	1	361	c.310A>T	c.(310-312)Act>Tct	p.T104S	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	104						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CGGCCAGATCACTCTGAGCTC	0.522000													17	47					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25720242	25720242	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:25720242G>T	ENST00000520164.1	-	11	1618	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	EBF2_ENST00000535548.1_Missense_Mutation_p.P92T|EBF2_ENST00000408929.3_Missense_Mutation_p.P213T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATCTCTCAGGATCTCCAGGA	0.418000													10	67					0.000442599	0.000458597	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453000													6	22					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153588159	153588159	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:153588159G>T	ENST00000422373.1	-	23	4168	c.3920C>A	c.(3919-3921)aCc>aAc	p.T1307N	FLNA_ENST00000360319.4_Missense_Mutation_p.T1307N|FLNA_ENST00000369850.3_Missense_Mutation_p.T1307N|FLNA_ENST00000344736.4_Missense_Mutation_p.T1307N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1307					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAACGTAGGTCTCCGTCAG	0.652000													25	101					2.79863e-10	3.16687e-10	1	1	0
MGAM	8972	broad.mit.edu	37	7	141765178	141765178	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:141765178C>T	ENST00000475668.2	+	38	4582	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1510C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1510	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGTCATCACCCGCTCCACATT	0.592000													3	33					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923476	150923476	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:150923476A>C	ENST00000261800.5	-	9	7224	c.7212T>G	c.(7210-7212)atT>atG	p.I2404M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2404	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCAGGGTCAATAGCCTGGA	0.473000													8	42					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559085	210559085	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr2:210559085A>G	ENST00000360351.4	+	7	2697	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727V|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	731					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCTTCCGATATTCTAACCAA	0.468000													36	143					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196507	8196507	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8196507C>T	ENST00000600128.1	-	15	2335	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	FBN3_ENST00000601739.1_Missense_Mutation_p.E641K|FBN3_ENST00000270509.2_Missense_Mutation_p.E641K			Q75N90	FBN3_HUMAN	fibrillin 3	641	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGCAGCACTCGGACTTGGTG	0.667000													40	45					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28118920	28118920	+	Missense_Mutation	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:28118920C>G	ENST00000304658.5	-	18	2920	c.2420G>C	c.(2419-2421)cGa>cCa	p.R807P	XPO6_ENST00000565698.1_Missense_Mutation_p.R793P	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	807					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCAAATCTGTCGAGACTTGGT	0.512000													17	86					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409679	13409679	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:13409679C>T	ENST00000360228.5	-	19	2767	c.2768G>A	c.(2767-2769)gGc>gAc	p.G923D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G924D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	924					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCGGCCTTGCCTCGCTCGGC	0.771000													10	5					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716084	52716084	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:52716084C>A	ENST00000322088.6	+	5	707	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q162K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q38K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	217	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTGACGAGCAGGTGAGTTT	0.597000			Mis		clear cell ovarian carcinoma								81	91					5.41189e-41	6.46421e-41	1	1	0
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7577557A>T	ENST00000420246.2	-	7	856	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		CCGCCCATGCAGGAACTGTTA	0.577000		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)			33	2					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138483289	138483289	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:138483289G>T	ENST00000251691.4	+	1	232	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	22					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCATCAAGGAGAGCTGCACCT	0.701000													23	14					2.44723e-14	2.88304e-14	1	1	0
ZNF252P	0	broad.mit.edu	37	8	146220662	146220662	+	RNA	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:146220662G>T	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						GCATGGAGTGGAGGTGAAAAA	0.408000													5	109					0.184627	0.184627	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:1563731A>G	ENST00000572621.1	-	29	5045	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R	PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1594						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)		CCCACCTGACATAAGTCCATA	0.522000													380	26					0	0	1	0	0
GOLGA7	51125	broad.mit.edu	37	8	41363429	41363429	+	Splice_Site	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:41363429G>A	ENST00000357743.4	+	3	465		c.e3-1		GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000405786.2_Splice_Site|GOLGA7_ENST00000520817.1_Splice_Site|GOLGA7_ENST00000521417.1_Splice_Site	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7							Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTTTCTGTCAGGTTCTGAAGA	0.438000													5	38					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19682374	19682374	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:19682374T>C	ENST00000397977.3	+	8	1295	c.897T>C	c.(895-897)gaT>gaC	p.D299D		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	299					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACAACTTTGATAGTGAAGCAC	0.363000													41	20					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61180412	61180412	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:61180412C>T	ENST00000216513.4	-	3	2118	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	687						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAACTATTTCCCCAAGGGCA	0.473000													22	13					0	0	1	0	0
IL5RA	0	broad.mit.edu	37	3	3143448	3143448	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:3143448G>A	ENST00000446632.2	-	5	869	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	IL5RA_ENST00000430514.2_Missense_Mutation_p.R99W|IL5RA_ENST00000256452.3_Missense_Mutation_p.R99W|IL5RA_ENST00000445864.2_Missense_Mutation_p.R99W|IL5RA_ENST00000418488.2_Missense_Mutation_p.R99W|IL5RA_ENST00000456302.1_Missense_Mutation_p.R99W|IL5RA_ENST00000438560.1_Missense_Mutation_p.R99W|IL5RA_ENST00000311981.8_Missense_Mutation_p.R99W|IL5RA_ENST00000383846.1_Missense_Mutation_p.R99W	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	99					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGGATGGTCCGCACACTTGCT	0.463000													17	21					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759376	121759376	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:121759376A>C	ENST00000261367.7	+	6	2513	c.1085A>C	c.(1084-1086)tAt>tCt	p.Y362S	SNCAIP_ENST00000503116.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Y315S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Y315S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Y362S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	315					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAGTGAGTATCTGAAAAAA	0.448000													19	103					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													6	2					0	0	1	0	0
TSIX	0	broad.mit.edu	37	X	73044555	73044555	+	RNA	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:73044555G>A	ENST00000604411.1	+	0	32516				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGAATTAAGTGACTTTCGGTC	0.323000													4	30					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19732106	19732106	+	Missense_Mutation	SNP	T	T	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:19732106T>A	ENST00000284885.3	-	8	881	c.848A>T	c.(847-849)tAt>tTt	p.Y283F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	283	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TACACCTTCATAAATATCTAA	0.259000													7	20					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2377168	2377168	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:2377168G>T	ENST00000202625.2	+	4	502	c.441G>T	c.(439-441)ctG>ctT	p.L147L	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.L147L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	147					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGTTTCTGGCCTCAGAGG	0.617000													12	89					9.31168e-06	1.02667e-05	1	1	0
DHX9	1660	broad.mit.edu	37	1	182829308	182829308	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:182829308G>T	ENST00000367549.3	+	12	1431	c.1321G>T	c.(1321-1323)Gta>Tta	p.V441L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	441	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGTAACATCGTAGTAACTCA	0.378000													22	45					5.26018e-13	6.11318e-13	1	1	0
REPIN1	29803	broad.mit.edu	37	7	150069555	150069555	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:150069555G>A	ENST00000397281.2	+	4	1714	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R	REPIN1_ENST00000489432.2_Missense_Mutation_p.G466R|REPIN1_ENST00000425389.2_Missense_Mutation_p.G409R|REPIN1_ENST00000540729.1_Missense_Mutation_p.G409R|REPIN1_ENST00000444957.1_Missense_Mutation_p.G409R|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	409					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGCCGAGTGCGGGAAGAACTT	0.721000													3	11					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4855406	4855406	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:4855406C>T	ENST00000252318.2	+	6	1492	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	385	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGAGAGAACGTGGAGCTTA	0.498000													37	56					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403564	143403564	+	RNA	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:143403564A>G	ENST00000423249.1	-	0	59																											TTCTTTGGCCACTTTGGCTGA	0.453000													3	13					0	0	1	0	0
RBBP9	10741	broad.mit.edu	37	20	18477788	18477788	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:18477788C>T	ENST00000337227.4	-	1	99	c.24G>A	c.(22-24)gtG>gtA	p.V8V	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	8						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CGGGAACAATCACTGCCTTGC	0.662000													4	46					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8486873	8486873	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8486873C>T	ENST00000602117.1	+	2	604	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MARCH2_ENST00000393944.1_Missense_Mutation_p.T50I|MARCH2_ENST00000381035.4_Missense_Mutation_p.T50I|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.T50I			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	50					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CTCCTCTCCACCGTCATCCGT	0.627000													19	54					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449630	105449630	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:105449630T>C	ENST00000337685.2	+	5	990	c.205T>C	c.(205-207)Tca>Cca	p.S69P	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S69P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S69P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	69										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTGCTGCCTCATTAGGACT	0.388000													7	27					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19216533	19216533	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:19216533G>A	ENST00000318596.7	+	5	528	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	126					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTTCCGTGGAGAGTGAGgc	0.672000													4	5					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520497	52520497	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:52520497G>A	ENST00000216286.5	-	5	1228	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I	NID2_ENST00000541773.1_Missense_Mutation_p.T357I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	410						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGTGGTGGGGTTTCCCAGGA	0.557000													39	53					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032537	46032537	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:46032537A>C	ENST00000334662.2	+	1	542	c.520A>C	c.(520-522)Atc>Ctc	p.I174L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	174	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCAAGCCCATCTGCTGTGT	0.622000													176	238					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12619	12619	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:12619T>C	ENST00000361567.2	+	1	283	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	95			F -> S.		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTGTAGCATTGTTCGTTACAT	0.373000													38	7					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149418077	149418077	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:149418077C>T	ENST00000255992.10	+	4	705	c.306C>T	c.(304-306)ccC>ccT	p.P102P	KRBA1_ENST00000319551.8_Silent_p.P102P|KRBA1_ENST00000485033.2_Silent_p.P102P|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	102										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGAGCCCCGAGGGTAAGT	0.617000													23	40					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824623	54824623	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:54824623G>C	ENST00000243911.2	+	1	836	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GAAGGGGGCAGTCACCATCAC	0.607000													92	21					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455920	83455920	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr15:83455920C>T	ENST00000334574.8	-	2	404	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	FSD2_ENST00000541889.1_Missense_Mutation_p.V75I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	75										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATAAGTGGACAAGTTCATCC	0.423000													14	75					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75184771	75184771	+	Missense_Mutation	SNP	C	C	T	rs138838220		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:75184771C>T	ENST00000336926.6	-	19	1938	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	HIP1_ENST00000434438.2_Missense_Mutation_p.A638T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	638					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGTTCAGGGCGTCTTGTATC	0.552000			T	PDGFRB	CMML								55	34					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797193	127797193	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:127797193G>A	ENST00000556132.1	-	6	2842	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W|SOGA3_ENST00000525778.1_Missense_Mutation_p.R660W|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	660						integral to membrane		p.R660W(1)									ACGTTCCTCCGCAGCAGCTCC	0.647000													19	78					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95602757	95602757	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:95602757G>A	ENST00000343958.4	-	2	2526	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FGD6_ENST00000549499.1_Missense_Mutation_p.A768V|FGD6_ENST00000546711.1_Missense_Mutation_p.A768V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	768					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTCCGTATAGCCATAATAAA	0.443000													15	64					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	639302	639302	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:639302C>T	ENST00000264935.5	+	8	1395	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	435					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGAGCTGGGGCGGCTGCAGGT	0.672000													13	106					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587891	55587891	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:55587891G>T	ENST00000333976.4	+	1	806	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V262V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTACTGTGTGCCCAACTCCA	0.527000													32	26					1.13719e-10	1.30398e-10	1	1	0
MAB21L2	10586	broad.mit.edu	37	4	151504556	151504556	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:151504556G>A	ENST00000317605.4	+	1	1480	c.375G>A	c.(373-375)gcG>gcA	p.A125A	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	125					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATCTCTCAGCGCGTAAGATCC	0.627000													41	105					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263305	34263305	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:34263305T>C	ENST00000262622.3	+	4	1370	c.612T>C	c.(610-612)aaT>aaC	p.N204N	CHST8_ENST00000434302.1_Silent_p.N204N|CHST8_ENST00000438847.2_Silent_p.N204N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	204					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTGCTCCAATTGGAAGCGGG	0.682000													54	65					0	0	1	0	0
MT-TT	0	broad.mit.edu	37	MT	15888	15888	+	RNA	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:15888G>A	ENST00000387460.2	+	0	1																											CAAATGGGCCTGTCCTTGTAG	0.373000													5	41					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19955931	19955931	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:19955931C>A	ENST00000255006.6	+	8	1558	c.1409C>A	c.(1408-1410)cCg>cAg	p.P470Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	421					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCACGGCCCCCGTGCCATGGA	0.687000													6	23					8.12818e-05	8.52468e-05	1	1	0
BHLHE23	128408	broad.mit.edu	37	20	61637712	61637712	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:61637712G>A	ENST00000370346.2	-	1	675	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	123	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						ACGGCTCGCAGCCCGTCCAGC	0.692000													5	44					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914009	39914009	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:39914009G>C	ENST00000393931.3	-	11	1919	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	JUP_ENST00000310706.5_Missense_Mutation_p.Q601E|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.Q601E	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	601					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCACGCGCTGGATGTTCTCC	0.667000													38	0					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47682239	47682239	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:47682239C>T	ENST00000273857.4	-	8	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.G284R|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Missense_Mutation_p.G212R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	351	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCCGTCCCCGCAGCGATGC	0.547000													35	17					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204237436	204237436	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:204237436G>C	ENST00000272203.3	-	4	423	c.107C>G	c.(106-108)aCt>aGt	p.T36S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T36S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	36										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCTGTGCGAGTTGCCTGGGG	0.597000													33	29					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700935	23700935	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:23700935C>T	ENST00000300093.4	+	9	1657	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	516	POLO box 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GACCTGGTTCCGCACCCGCAG	0.632000													21	29					0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14535162	14535162	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:14535162T>C	ENST00000555531.1	-	6	484	c.440A>G	c.(439-441)aAt>aGt	p.N147S	PSMA1_ENST00000396394.2_Silent_p.Q166Q|PSMA1_ENST00000418988.2_Silent_p.Q172Q|PSMA1_ENST00000530457.1_Silent_p.Q141Q|PSMA1_ENST00000396393.1_Silent_p.Q166Q|PSMA1_ENST00000419365.2_Missense_Mutation_p.N147S			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TACGAGCTGATTGGGAACGGG	0.388000													32	31					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725735	15725735	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:15725735G>C	ENST00000262041.5	-	1	702	c.293C>G	c.(292-294)tCt>tGt	p.S98C		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	98					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGTGGGGAAGACATCTGCGG	0.667000													7	12					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092954	1092954	+	Splice_Site	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776_splice	c.e30+1	p.T1592_splice	MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1594	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccactacggtgaccccaa	0.627000													3	6					0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45590702	45590702	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:45590702G>A	ENST00000216330.3	-	5	850	c.440C>T	c.(439-441)aCt>aTt	p.T147I	FKBP3_ENST00000396062.3_Missense_Mutation_p.T147I			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	147	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTGAATATTAGTATCAAAAAC	0.363000													5	35					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449729	61449729	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr18:61449729G>T	ENST00000398019.2	+	2	448	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SERPINB7_ENST00000336429.2_Silent_p.L41L|SERPINB7_ENST00000546027.1_Silent_p.L41L|SERPINB7_ENST00000540675.1_Silent_p.L41L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	41					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCCTGGCCCTGGTCCGCTTGG	0.473000													19	68					1.67942e-08	1.87571e-08	1	1	0
ANKRD13A	88455	broad.mit.edu	37	12	110454197	110454197	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:110454197C>T	ENST00000261739.4	+	4	525	c.359C>T	c.(358-360)cCg>cTg	p.P120L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	120										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTTCAGGCTCCGGATTTCTAT	0.433000													38	18					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933118	39933118	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:39933118C>T	ENST00000342274.4	-	4	1843	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	BCOR_ENST00000378444.4_Missense_Mutation_p.C494Y|BCOR_ENST00000378455.4_Missense_Mutation_p.C494Y|BCOR_ENST00000397354.3_Missense_Mutation_p.C494Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	494					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATAGATAGCACAACCATTTCC	0.522000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						10	33					0	0	1	0	0
RP5-896L10.1	0	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs57656522		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													4	5	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:195452664delC	ENST00000320736.6	+	3	803	c.677delC	c.(676-678)acfs	p.T226fs	MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													4	7	---	---	---	---					
RP11-262H14.1	0	broad.mit.edu	37	9	66464851	66464851	+	RNA	DEL	A	A	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr9:66464851delA	ENST00000424345.1	+	0	224																											ACACAGTTTTACAAATTTTAG	0.408													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720780	89720780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89720780delA	ENST00000371953.3	+	8	2288	c.931delA	c.(931-933)atfs	p.N311fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	311	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCGTGCAGATAATGACAAGGA	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	46	---	---	---	---					
RP13-726E6.2	0	broad.mit.edu	37	11	3578348	3578348	+	RNA	DEL	C	C	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:3578348delC	ENST00000527970.1	-	0	285																											CCCTTTATCACCCCTTCCCTT	0.453													4	4	---	---	---	---					
TPTE2P6	0	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	5	---	---	---	---					
PHF23	79142	broad.mit.edu	37	17	7142121	7142121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7142121delG	ENST00000454255.2	-	1	128	c.6delC	c.(4-6)ccfs	p.P2fs	PHF23_ENST00000576955.1_Intron|PHF23_ENST00000320316.3_Intron|PHF23_ENST00000571362.1_Intron			Q9BUL5	PHF23_HUMAN	PHD finger protein 23	0							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GACAATCACCGGGCATTCTCC	0.622													2	4	---	---	---	---