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
TMEM33	55161	broad.mit.edu	37	4	41941241	41941241	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:41941241C>T	ENST00000504986.1	+	3	534	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	57						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTTTACCAACGTGCTTTGCT	0.458000													32	46					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:7578211C>T	ENST00000420246.2	-	6	770	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	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 LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		CACACTATGTCGAAAAGTGTT	0.532000		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)			25	2					0	0	1	0	0
TXNDC12	51060	broad.mit.edu	37	1	52507235	52507235	+	Silent	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:52507235T>C	ENST00000371626.4	-	2	1206	c.132A>G	c.(130-132)gaA>gaG	p.E44E	TXNDC12_ENST00000472624.1_5'UTR|RP11-91A18.4_ENST00000425802.1_RNA	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	384					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TCTTCCCATCTTCCAGTGTCC	0.398000													30	34					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128747140	128747140	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:128747140G>C	ENST00000357702.5	-	13	1987	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*|SAP130_ENST00000259235.3_Nonsense_Mutation_p.S619*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	619					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAATTACCTGAAGTCTTTCC	0.433000													31	24					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600417	54600417	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54600417C>T	ENST00000284648.6	-	4	302	c.105G>A	c.(103-105)ctG>ctA	p.L35L	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000356532.3_Silent_p.L39L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000391761.1_Silent_p.L24L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	35	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCTGAGCTCCCAGCCATGGCT	0.602000													32	14					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450235	105450235	+	Silent	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:105450235T>C	ENST00000337685.2	+	5	1595	c.810T>C	c.(808-810)tcT>tcC	p.S270S	MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000357175.2_Silent_p.S270S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	270										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						CTGTTCCCTCTGAATGCTCTG	0.473000													10	12					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12557680	12557680	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:12557680C>T	ENST00000358136.3	+	68	12919	c.12789C>T	c.(12787-12789)gaC>gaT	p.D4263D	VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Silent_p.D67D|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.D4238D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4262					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACATACAGGACGAATTGTAAG	0.517000													19	31					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867851	207867851	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:207867851A>T	ENST00000508064.2	+	5	677	c.617A>T	c.(616-618)tAc>tTc	p.Y206F	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	206	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTCCATATACTGCACCAGC	0.478000													84	100					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032991	153032991	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:153032991G>C	ENST00000538966.1	+	4	1049	c.778G>C	c.(778-780)Gcc>Ccc	p.A260P	PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A237P	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	237	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTCGGGGCCTTTGCCGA	0.721000													19	12					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057144	95057144	+	Missense_Mutation	SNP	G	G	T	rs61761874		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:95057144G>T	ENST00000329597.7	+	5	1159	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554866.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	317					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGGAGAAAGTCCTCCCCAG	0.517000													33	59					1.62565e-12	1.70973e-12	1	1	0
OR51B6	390058	broad.mit.edu	37	11	5373614	5373614	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:5373614A>G	ENST00000380219.1	+	1	877	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATAGCATTAAAACTAAGCA	0.408000													4	113					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132620334	132620334	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:132620334C>T	ENST00000315480.4	+	5	299	c.141C>T	c.(139-141)gcC>gcT	p.A47A	USP20_ENST00000372429.3_Silent_p.A47A|USP20_ENST00000358355.1_Silent_p.A47A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	47					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCCAGGTTGCCTGCCCCTATG	0.557000													31	117					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73513561	73513561	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:73513561G>T	ENST00000418310.1	+	5	793	c.691G>T	c.(691-693)Gtc>Ttc	p.V231F	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000336180.2_Missense_Mutation_p.V201F			P53667	LIMK1_HUMAN	LIM domain kinase 1	201	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CACCGTCCGCGTCCAGGGGTG	0.647000													32	163					4.3181e-19	4.62112e-19	1	1	0
MTMR1	8776	broad.mit.edu	37	X	149905114	149905114	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:149905114A>T	ENST00000445323.2	+	11	1249	c.1128A>T	c.(1126-1128)gaA>gaT	p.E376D	MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000370390.3_Missense_Mutation_p.E368D			Q13613	MTMR1_HUMAN	myotubularin related protein 1	368	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATGCAGAACTTGTGTTCT	0.403000													40	43					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:4579733C>T	ENST00000301396.4	-	7	997	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000574876.1_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607000													25	29					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567220	223567220	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:223567220T>A	ENST00000366875.3	+	1	506	c.403T>A	c.(403-405)Tgc>Agc	p.C135S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	135	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCGCAGCCCTGCCCGCATTA	0.701000													6	7					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146068294	146068294	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr8:146068294G>A	ENST00000528372.1	+	5	2042	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAACACCAGAGAATACACACT	0.453000													37	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598483	179598483	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:179598483G>A	ENST00000589042.1	-	53	15857	c.15633C>T	c.(15631-15633)gaC>gaT	p.D5211D	TTN_ENST00000591111.1_Silent_p.D4894D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4894	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTTTCCGTCTTCTCTGA	0.453000													6	124					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70469386	70469386	+	Silent	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:70469386A>G	ENST00000373998.1	-	7	2092	c.1395T>C	c.(1393-1395)ccT>ccC	p.P465P	ZMYM3_ENST00000373988.1_Silent_p.P467P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373982.1_Silent_p.P467P|ZMYM3_ENST00000353904.2_Silent_p.P465P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	465					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTCAGGGCCAGGACTCCCGG	0.557000													6	8					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67292589	67292589	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:67292589G>A	ENST00000371026.3	-	15	2308	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y	WDR78_ENST00000431318.1_Silent_p.Y464Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751								p.Y751Y(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGCAACGTCGTAAACAACAG	0.393000													58	48					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987185	61987185	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:61987185G>A	ENST00000259003.10	-	5	513	c.369C>T	c.(367-369)gaC>gaT	p.D123D	CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000309894.5_Silent_p.D185D|CSHL1_ENST00000438387.2_Silent_p.D102D			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	185						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGAGCAGTGCGTCATGGTTGT	0.567000													6	163					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													7	40					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55750876	55750876	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:55750876G>T	ENST00000349456.4	+	3	348	c.200G>T	c.(199-201)gGt>gTt	p.G67V	CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	67										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTTAGAAGGTTACCTCAAA	0.294000													5	48					0.000602214	0.000622628	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51411540	51411540	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:51411540A>T	ENST00000319760.6	-	1	908	c.856T>A	c.(856-858)Ttg>Atg	p.L286M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAATTTCTCAACGTATATATT	0.333000													3	56					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14922109	14922109	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:14922109G>A	ENST00000285046.5	+	3	2799	c.2689G>A	c.(2689-2691)Gca>Aca	p.A897T	FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	897	DH.				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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTTGTCATCGCACAGGAACT	0.542000													5	30					0	0	1	0	0
GBGT1	26301	broad.mit.edu	37	9	136029210	136029210	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:136029210C>T	ENST00000372043.3	-	7	1064	c.779G>A	c.(778-780)gGg>gAg	p.G260E	GBGT1_ENST00000372040.3_Silent_p.G266G|GBGT1_ENST00000540636.1_Silent_p.G249G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCACCTGCCCCCCGAAGACTG	0.612000													35	111					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								33	44					0	0	1	0	0
PEX11A	8800	broad.mit.edu	37	15	90226670	90226670	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr15:90226670C>A	ENST00000300056.3	-	3	831	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	228					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATAGAGGACACAAGACCTCCA	0.463000													5	280					0.00198382	0.00201688	1	1	0
PAQR8	85315	broad.mit.edu	37	6	52268806	52268806	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:52268806C>T	ENST00000442253.2	+	2	969	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PAQR8_ENST00000360726.3_Silent_p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	265					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.P265P(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCTCCTGCCCCGTGCCTGAGA	0.577000													26	24					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513993	113513993	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:113513993G>A	ENST00000541405.1	-	4	983	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	CKAP2L_ENST00000302450.6_Missense_Mutation_p.R319W			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	319						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTATGACCGTATCTTAGTT	0.378000													4	134					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526937	23526937	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:23526937T>G	ENST00000296682.3	+	11	1922	c.1740T>G	c.(1738-1740)taT>taG	p.Y580*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	580					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.592000										HNSCC(3;0.000094)			46	54					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32456373	32456373	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:32456373C>T	ENST00000357033.4	-	29	4262	c.4056G>A	c.(4054-4056)agG>agA	p.R1352R	DMD_ENST00000378677.2_Silent_p.R1348R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1352					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATGTAGTTCCCTCCAACGAG	0.383000													4	95					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230565	56230565	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:56230565C>T	ENST00000279791.1	-	1	312	c.313G>A	c.(313-315)Gtt>Att	p.V105I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACGTGGACAACGGCAATGAAA	0.473000													41	33					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	130					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50636345	50636345	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr22:50636345C>T	ENST00000303434.4	+	8	884	c.765C>T	c.(763-765)atC>atT	p.I255I	TRABD_ENST00000395829.1_Silent_p.I255I|TRABD_ENST00000395827.1_Silent_p.I255I|TRABD_ENST00000380909.4_Silent_p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	255										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		ACCGCACCATCGTCTCGGAGC	0.652000													52	65					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130947384	130947384	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:130947384A>G	ENST00000383366.4	+	15	1705	c.1412A>G	c.(1411-1413)gAc>gGc	p.D471G	NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G|NEK11_ENST00000510769.1_Missense_Mutation_p.D366G	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	471					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATCCCAGAAGACCCACTTGTG	0.368000													11	255					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49153204	49153204	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:49153204T>A	ENST00000453664.1	-	11	1927	c.1609A>T	c.(1609-1611)Aca>Tca	p.T537S	USP19_ENST00000398888.2_Missense_Mutation_p.T446S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000417901.1_Missense_Mutation_p.T549S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	446					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCATGGGTGTGCGGGTTGCC	0.602000													17	43					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41069807	41069807	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:41069807A>C	ENST00000324545.7	+	33	5694	c.5061A>C	c.(5059-5061)ttA>ttC	p.L1687F	USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1687					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACGATGCTTTAGAATTTTTTA	0.353000													9	144					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72732892	72732892	+	Missense_Mutation	SNP	G	G	A	rs145742720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:72732892G>A	ENST00000333149.2	-	4	855	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	219						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGCCGCTCCCGGGTTCCCTGG	0.667000													29	120					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463521	25463521	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:25463521T>C	ENST00000264709.3	-	18	2498	c.2161A>G	c.(2161-2163)Aag>Gag	p.K721E	DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E|DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	721					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGGCCCTTGCGAGCAGGG	0.577000			"""Mis, F, N, S"""		AML								28	31					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474198	99474198	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:99474198G>A	ENST00000316368.2	-	1	482	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGTTCACGGATGCCCCCA	0.507000													29	91					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69094596	69094596	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69094596A>G	ENST00000332644.5	-	9	1114	c.953T>C	c.(952-954)tTt>tCt	p.F318S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	318	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TATCACTGGAAATGAACCTAA	0.358000													3	62					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542108	62542108	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:62542108A>G	ENST00000430451.2	+	3	1189	c.993_splice	c.e3+1	p.E331_splice	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Splice_Site_p.E331_splice	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	331										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGTCCAGAGGCAAGTTAT	0.443000													41	61					0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34611084	34611084	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:34611084G>A	ENST00000297613.4	-	2	490	c.210C>T	c.(208-210)tgC>tgT	p.C70C	RPP25L_ENST00000378959.4_Silent_p.C70C	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	70							nucleic acid binding										CAATCTCAGCGCAGCTGACAG	0.622000													3	43					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104187730	104187730	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:104187730T>C	ENST00000392876.3	-	7	839	c.799A>G	c.(799-801)Att>Gtt	p.I267V		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	267							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTGCTTCAATTGCTCTGTAC	0.403000													35	51					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308494	70308494	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:70308494G>A	ENST00000517649.1	-	4	539	c.249C>T	c.(247-249)gcC>gcT	p.A83A	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Silent_p.A83A|NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	83					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAACCCAGCGGCCGCCATCT	0.493000													39	65					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666576	160666576	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:160666576C>T	ENST00000366952.1	-	8	2377	c.894_splice	c.e8-1	p.R299_splice	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Splice_Site_p.R320_splice			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	320					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.R320H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AAGTCTCAGGCGCTAAGAAAA	0.408000													10	24					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095170	69095170	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69095170G>A	ENST00000332644.5	-	8	912	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGACTTTCCGTGTCATATAT	0.338000													27	28					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141130603	141130603	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:141130603C>T	ENST00000389484.3	-	69	11713	c.10742G>A	c.(10741-10743)gGg>gAg	p.G3581E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCATCTTCCCCATATTTGCA	0.358000										TSP Lung(27;0.18)			6	150					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54628008	54628008	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54628008C>T	ENST00000321030.4	+	8	1177	c.828C>T	c.(826-828)caC>caT	p.H276H	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.H276H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	276	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACATCTACCACAGTGACATCG	0.667000													19	11					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161851	141161851	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:141161851C>T	ENST00000514251.1	+	4	900	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZBTB38_ENST00000321464.5_Silent_p.D208D|ZBTB38_ENST00000441582.2_Silent_p.D207D			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	207					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGGACGGACGTCTGCCACG	0.512000													36	44					0	0	1	0	0
ANKRD36BP2	0	broad.mit.edu	37	2	89103807	89103807	+	RNA	DEL	T	T	-	rs67046863		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:89103807delT	ENST00000393525.3	+	0	4281																											GTCTAAAATATTTTATATata	0.249													2	4	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233697764	233697766	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:233697764_233697766delGCA	ENST00000373566.3	+	23	2990_2992	c.2793_2795delGCA	c.(2791-2796)ttg>tt	p.LQ931del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.LQ740del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.LQ909del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.LQ930del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.LQ931del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.LQ909del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.LQ903del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	909	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCGGAGGTTgcagcagcagcag	0.547													2	4	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs77824792	by1000genomes	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1																						AGGTTTAGTGATTTTTATTCCAA	0.429													3	5	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													4	9	---	---	---	---					
CHST3	9469	broad.mit.edu	37	10	73767262	73767264	+	In_Frame_Del	DEL	TCT	TCT	-	rs145538723		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr10:73767262_73767264delTCT	ENST00000373115.4	+	3	910_912	c.473_475delTCT	c.(472-477)atc>a	p.IF158del		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	158					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CAGGGCAACATCTTCTACCTCTT	0.700													8	12	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870928	12870929	+	Frame_Shift_Ins	INS	-	-	GGAAGAGGCG			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:12870928_12870929insGGAAGAGGCG	ENST00000228872.4	+	1	871_872	c.155_156insGGAAGAGGCG	c.(154-156)agafs	p.R52fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.R52fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	52					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	p.M52I(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGCAGAGACATGGAAGAGGCGA	0.594													10	76	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													2	4	---	---	---	---					
SPIRE2	84501	broad.mit.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219	by1000genomes	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(454-459)ccagga>ccGAGagga	p.152_153PG>PRG	SPIRE2_ENST00000393062.2_In_Frame_Ins_p.152_153PG>PRG|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	152	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728													6	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939556	76939557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:76939556_76939557insA	ENST00000373344.5	-	9	1405_1406	c.1191_1192insT	c.(1189-1194)tctgttfs	p.V398fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAGCCAACACAGACTTAAAAG	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						242	320	---	---	---	---