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
KCTD21	283219	broad.mit.edu	37	11	77885166	77885166	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552000													9	124					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033216	55033216	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:55033216C>G	ENST00000374987.3	+	6	971	c.905C>G	c.(904-906)tCt>tGt	p.S302C		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	302					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GTGATGGGCTCTGACCACTGC	0.587000								Other BER factors					3	79					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			58	103					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000													4	136					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45445612	45445612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:45445612C>A	ENST00000321429.4	+	27	3866	c.3459C>A	c.(3457-3459)taC>taA	p.Y1153*	DUOX1_ENST00000559221.1_3'UTR|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1153	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAATGTGTACCTGTTCTCCA	0.552000													5	291					1.024e-07	1.07733e-07	1	1	0
DGKK	139189	broad.mit.edu	37	X	50136278	50136278	+	RNA	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:50136278T>C	ENST00000376025.2	-	0	1526							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCAAGGGACATGAACAGGCTG	0.428000													27	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075042	9075042	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:9075042G>A	ENST00000397910.4	-	3	12607	c.12404C>T	c.(12403-12405)aCc>aTc	p.T4135I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4137	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGAGAGTGGTCTTCTCTGA	0.502000													54	100					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683618	100683618	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:100683618G>T	ENST00000306151.4	+	3	8985	c.8921G>T	c.(8920-8922)gGt>gTt	p.G2974V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2974	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTACCAGCATG	0.517000													7	810					8.12818e-05	8.46337e-05	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								71	118					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98766462	98766462	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:98766462C>G	ENST00000266058.4	-	32	3602	c.3357G>C	c.(3355-3357)gaG>gaC	p.E1119D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1119	EGF-like 5.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGGAGGGATCTCACAGAGCT	0.577000													14	41					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292927	62292927	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:62292927C>T	ENST00000378024.4	-	5	9236	c.8962G>A	c.(8962-8964)Gtg>Atg	p.V2988M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2988					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACCTTCCACTTTGGGCAGA	0.522000													7	570					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299762	125299762	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:125299762C>T	ENST00000538699.1	-	2	226	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R49H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	49										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACCAGCCTGCGACGCGTCGC	0.726000													7	85					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70367807	70367807	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:70367807C>A	ENST00000374051.3	+	2	530	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L70M	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	70					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGACCAATACCTGGGGGTGCC	0.632000													4	63					0.00024832	0.000255922	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55405846	55405846	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:55405846A>C	ENST00000314612.2	+	1	13	c.13A>C	c.(13-15)Aat>Cat	p.N5H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGAAAAAAGCAATAATAGCAC	0.308000													138	211					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	978952	978952	+	Silent	SNP	C	C	T	rs142440782		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692000													50	72					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420286	56420286	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:56420286C>T	ENST00000407595.2	+	2	1453	c.951C>T	c.(949-951)ttC>ttT	p.F317F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	317	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGGAACACTTCCAGAAGCACC	0.642000													5	219					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533526	145533526	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:145533526C>G	ENST00000369304.3	+	12	1584	c.1409C>G	c.(1408-1410)gCt>gGt	p.A470G	ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGATGGGGCTGTGAGGGTT	0.587000													5	89					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76912144	76912144	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76912144C>G	ENST00000373344.5	-	13	4335		c.e13-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TCACTGCTCACTTGaatttta	0.318000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						34	87					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674050	19674050	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:19674050C>G	ENST00000328041.6	+	13	1669	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	491						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCAGCCTTCTCCTACATGATG	0.493000													6	112					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257270	114257270	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:114257270G>A	ENST00000306507.5	+	1	610	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTACCGCCGCAAGTTCCCC	0.647000													5	492					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13273136	13273136	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:13273136A>G	ENST00000379350.1	+	10	1565	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	479						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAACAGAGGAACATTTTGAAA	0.463000													15	380					0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38343398	38343398	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr22:38343398G>A	ENST00000249079.2	-	4	495	c.239C>T	c.(238-240)tCg>tTg	p.S80L	C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	80										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GTAGATGGGCGAGGCTATTTG	0.607000													4	148					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:20641084G>A	ENST00000382869.3	+	20	3477	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000382870.2_Missense_Mutation_p.V456I|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.V1076I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACGTATGGCGTAAATGCATG	0.373000													21	38					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449670	138449670	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:138449670A>C	ENST00000344876.4	-	3	3088	c.2702T>G	c.(2701-2703)tTc>tGc	p.F901C	PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	901	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGGTCGCTGAATCCTTCACC	0.443000													16	391					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518831	113518831	+	Silent	SNP	C	C	T	rs34610491	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:113518831C>T	ENST00000284601.3	-	4	2384	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGATCAAACGCTGTTTCCT	0.408000													14	301					0	0	1	0	0
RP11-1055B8.7	0	broad.mit.edu	37	17	79410429	79410429	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:79410429G>A	ENST00000307745.7	+	9	2054	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H																								GACTGTGCCCGCAGCAGGGAG	0.682000													3	26					0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53113132	53113132	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:53113132A>G	ENST00000395686.3	-	14	1396	c.1173T>C	c.(1171-1173)tgT>tgC	p.C391C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	391					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AACAACCAACACAATCCATAA	0.294000													17	166					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33149252	33149252	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:33149252G>C	ENST00000334528.9	-	13	3222	c.3223C>G	c.(3223-3225)Cct>Gct	p.P1075A	FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000559047.1_Missense_Mutation_p.P1298A	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1298	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTGAAAGGCTGGAGATAC	0.443000													61	97					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995747	140995747	+	Missense_Mutation	SNP	A	A	G	rs139093022	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:140995747A>G	ENST00000285879.4	+	4	2843	c.2557A>G	c.(2557-2559)Agt>Ggt	p.S853G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	853							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTCCAGAGTCCTGTGAT	0.512000										HNSCC(15;0.026)			6	434					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912756	38912756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:38912756G>A	ENST00000454404.2	-	2	274	c.61C>T	c.(61-63)Cga>Tga	p.R21*	RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R21*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGGCCTCGCCCTCCTATT	0.612000													26	53					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610405	25610405	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:25610405G>A	ENST00000329474.6	+	36	4343	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1325					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATTTTCACAGGAAGGTAAGG	0.458000													4	113					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8370965	8370965	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:8370965A>G	ENST00000332175.8	+	22	4130	c.3093A>G	c.(3091-3093)ctA>ctG	p.L1031L	PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000580170.1_Silent_p.L1044L|PTPRM_ENST00000400053.4_Silent_p.L969L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1031	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACAGAACTACTGGCAGAAT	0.343000													7	141					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58564210	58564210	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:58564210C>T	ENST00000348616.4	+	9	1575	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	CDH26_ENST00000244047.5_Silent_p.S425S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	425	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCAGACAGCCAGATAAGGT	0.542000													5	510					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651416	78651416	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:78651416G>A	ENST00000286627.5	-	25	3987	c.3035C>T	c.(3034-3036)cCg>cTg	p.P1012L	RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1070L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|RP11-443A13.5_ENST00000458661.2_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1070					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTCCAGCTCCGGCGTGGCTCC	0.577000													53	59					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415831	7415831	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7415831A>T	ENST00000322644.6	+	27	4927	c.4528A>T	c.(4528-4530)Atg>Ttg	p.M1510L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1510					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCAGTCCCATGGGTGGAAT	0.557000													67	91					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6391946	6391946	+	Silent	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:6391946T>C	ENST00000394456.5	-	3	563	c.99A>G	c.(97-99)gcA>gcG	p.A33A	GTF2F1_ENST00000429701.2_Silent_p.A5A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	33					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTTGTCGGCTGCATTAAAAG	0.443000													5	15					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902375	16902375	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:16902375T>C	ENST00000524140.2	+	14	3573	c.3155T>C	c.(3154-3156)gTc>gCc	p.V1052A	NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A|NWD1_ENST00000339803.6_Missense_Mutation_p.V917A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1052							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTGTGCCGTCTCAGTCCAG	0.478000													5	188					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019612	123019612	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:123019612G>T	ENST00000371199.3	+	2	399	c.100G>T	c.(100-102)Gct>Tct	p.A34S	XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000434753.3_Missense_Mutation_p.A34S|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	34					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAAAACTTTTGCTAATTTTCC	0.378000									X-linked Lymphoproliferative syndrome				49	257					9.22156e-22	9.80397e-22	1	1	0
UTRN	7402	broad.mit.edu	37	6	144878380	144878380	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:144878380G>C	ENST00000367545.3	+	49	7222	c.7222G>C	c.(7222-7224)Gat>Cat	p.D2408H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2408					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATATGGGAGTGATGACACAAG	0.438000													7	119					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754555	93754555	+	Silent	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:93754555T>A	ENST00000315765.9	+	1	29	c.21T>A	c.(19-21)gcT>gcA	p.A7A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCAGCCAGCTGGCTGCATCT	0.537000													8	211					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463000													5	474					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16290835	16290835	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:16290835A>G	ENST00000259727.4	+	8	954	c.840A>G	c.(838-840)ggA>ggG	p.G280G	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	280					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCACGCAGGAGGAGTTGCTG	0.572000													11	188					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28728468	28728468	+	Silent	SNP	G	G	A	rs138689452		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:28728468G>A	ENST00000257197.3	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	DSC1_ENST00000257198.5_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACCGGATCGGCAATTTTCAG	0.328000													4	237					0	0	1	0	0
EMD	2010	broad.mit.edu	37	X	153608070	153608070	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:153608070G>A	ENST00000369842.4	+	2	391	c.103G>A	c.(103-105)Gag>Aag	p.E35K	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	35	LEM.				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	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)					TAGGCTTTACGAGAAGAAGAT	0.697000													4	118					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121823847	121823847	+	Silent	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:121823847C>A	ENST00000395601.3	-	2	651	c.237G>T	c.(235-237)gcG>gcT	p.A79A	SNTB1_ENST00000517992.1_Silent_p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	79	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			gcgcgccgcccgcgcccgggt	0.741000													3	19					0.115264	0.116417	1	1	0
PLD5	200150	broad.mit.edu	37	1	242253223	242253223	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:242253223T>A	ENST00000442594.2	-	11	1777	c.1268A>T	c.(1267-1269)aAa>aTa	p.K423I	PLD5_ENST00000427495.1_Missense_Mutation_p.K453I|PLD5_ENST00000536534.1_Missense_Mutation_p.K515I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	515						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGGTTTGAGTTTGAACAGGCT	0.458000													18	483					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938583	76938583	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76938583G>C	ENST00000373344.5	-	9	2379	c.2165C>G	c.(2164-2166)tCa>tGa	p.S722*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	722					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)	CACAGTCTCTGATTGCTTAGA	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						31	788					0	0	1	0	0
MSH5-SAPCD1	0	broad.mit.edu	37	6	31726366	31726366	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:31726366C>T	ENST00000493662.2	+	14	1292	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	MSH5_ENST00000395853.1_Silent_p.V69V|MSH5_ENST00000534153.4_Silent_p.V412V|MSH5_ENST00000431848.2_Silent_p.V94V|MSH5_ENST00000375703.3_Silent_p.V395V|MSH5_ENST00000375740.3_Silent_p.V412V|MSH5_ENST00000375742.3_Silent_p.V412V|MSH5_ENST00000375750.3_Silent_p.V395V|MSH5_ENST00000375755.3_Silent_p.V395V																							GCTTCACAGTCCTCCCCAACA	0.532000													9	116					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139980298	139980298	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:139980298C>T	ENST00000394235.2	-	10	2087	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	541					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCTTTTTTGCCACTGCTTCC	0.468000													5	533					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102206866	102206866	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:102206866G>A	ENST00000263464.3	+	7	4244	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	BIRC3_ENST00000532808.1_Silent_p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	498	CARD.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATTGATACGATTTTAGTAA	0.348000			T	MALT1	MALT								18	307					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35324207	35324207	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:35324207C>T	ENST00000374748.1	-	11	1208	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I|CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374749.3_Missense_Mutation_p.V299I			Q13617	CUL2_HUMAN	cullin 2	299					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CGGAGTAAGACGTACATATTT	0.428000													54	104					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675338	21675338	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:21675338C>T	ENST00000379499.2	-	1	1110	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	190	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTCGGGCACCCGCGCCACGTC	0.697000													11	9					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15573098	15573098	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:15573098T>A	ENST00000378076.3	-	28	3286	c.2933A>T	c.(2932-2934)aAg>aTg	p.K978M		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	978					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAAGGCATCTTCTTAACTTC	0.294000													5	254					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179484780	179484780	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:179484780T>C	ENST00000589042.1	-	249	46588	c.46364A>G	c.(46363-46365)gAt>gGt	p.D15455G	TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D13814G|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13814	Fibronectin type-III 12.						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)			ACACTCATCATCCAGCCTGCA	0.363000													5	131					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43916044	43916044	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:43916044C>G	ENST00000562955.1	+	71	10021	c.10021C>G	c.(10021-10023)Cag>Gag	p.Q3341E	SZT2_ENST00000372442.1_Missense_Mutation_p.Q2499E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3398						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTCCCAGTACAGCCCCAGGA	0.622000													73	152					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65899908	65899908	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:65899908A>G	ENST00000321892.4	+	10	2986	c.2925A>G	c.(2923-2925)ttA>ttG	p.L975L	BPTF_ENST00000306378.6_Silent_p.L849L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000424123.3_Silent_p.L836L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	975					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTTAGGTTACACCGGATGA	0.333000													7	108					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316743	46316743	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr12:46316743G>A	ENST00000465950.1	-	3	4365	c.3156C>T	c.(3154-3156)agC>agT	p.S1052S	SCAF11_ENST00000419565.2_Silent_p.S1367S|SCAF11_ENST00000549162.1_Silent_p.S1175S|SCAF11_ENST00000369367.3_Silent_p.S1367S|SCAF11_ENST00000550629.1_5'UTR			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1367					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGCTATCTGCGCTGGCTTCCA	0.398000													6	491					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492765	108492765	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:108492765C>T	ENST00000368986.4	+	2	837	c.129C>T	c.(127-129)agC>agT	p.S43S	NR2E1_ENST00000368983.3_Silent_p.S80S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	43					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCAAACGGAGCATCCGAAGGA	0.557000													13	335					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949056	59949056	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:59949056C>A	ENST00000528851.1	-	2	285	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	MS4A6A_ENST00000530839.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W|MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	49						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGATTTACCCCAATAACTTTG	0.478000													5	233					0.000602214	0.00061438	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136596819	136596819	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:136596819T>C	ENST00000531224.1	-	6	1955	c.1703A>G	c.(1702-1704)gAc>gGc	p.D568G	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	568					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.D568G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCAGCCTGTCTTTAGTCAA	0.388000													21	305					0	0	1	0	0
TRAV19	0	broad.mit.edu	37	14	22476212	22476212	+	RNA	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:22476212C>T	ENST00000390447.3	+	0	259																											GTATGAAACCCGTGATACTAC	0.418000													3	41					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823729	47823729	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:47823729G>A	ENST00000355085.3	+	2	717	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	232					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGTGGAGCCGCAGGGCCACG	0.597000													4	198					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20825295	20825295	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:20825295T>C	ENST00000527915.1	+	14	1459	c.1454T>C	c.(1453-1455)cTg>cCg	p.L485P	PARP2_ENST00000250416.5_Missense_Mutation_p.L485P|PARP2_ENST00000429687.3_Missense_Mutation_p.L472P			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	485	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ACAGGACTGCTGCTCTTATCA	0.403000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	120					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	142					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458000													8	142					0	0	1	0	0
PAGR1	79447	broad.mit.edu	37	16	29827954	29827954	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr16:29827954C>T	ENST00000320330.6	+	1	670	c.108C>T	c.(106-108)acC>acT	p.T36T	AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		TGGAGGATACCGGAGGCCCCT	0.706000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	25					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	13					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372584	180372584	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:180372584T>C	ENST00000273654.4	-	13	1767	c.1148A>G	c.(1147-1149)gAc>gGc	p.D383G	CCDC39_ENST00000442201.2_Missense_Mutation_p.D299G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	299					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTCATGGTCCTGATATGC	0.348000													5	69					0	0	1	0	0
TRBV6-7	0	broad.mit.edu	37	7	142144060	142144060	+	RNA	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:142144060C>T	ENST00000390373.2	-	0	24																											GAAAAGGCCACACAGCACAGG	0.602000													10	315					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113495	136113495	+	Silent	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:136113495C>G	ENST00000298110.1	-	1	338	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	113						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGAAGGCGAACAGGTGGGTGA	0.612000													7	59					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129357111	129357111	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:129357111C>T	ENST00000393232.1	+	9	1235	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M|NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	373	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATCCAGACGACGCAAGCATCA	0.537000													7	117					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	rs1051911		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000360661.5_Missense_Mutation_p.R42H|BAK1_ENST00000442998.2_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602000													62	108					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567000													6	293					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173883867	173883867	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:173883867G>A	ENST00000367698.3	-	2	350	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	78					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CAGACACGCCGGTTGGTGGCC	0.527000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	316					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	236177	236177	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:236177C>G	ENST00000382743.4	-	1	254	c.152G>C	c.(151-153)aGa>aCa	p.R51T	SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000525319.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	51					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGGCTGCCTCTCAGCCCCGC	0.726000													4	7					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366460	40366460	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:40366460C>T	ENST00000221347.6	-	30	13781	c.13774G>A	c.(13774-13776)Gat>Aat	p.D4592N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4592	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGTCCCCATCGAAAGCCAGC	0.657000													5	190					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642720	128642720	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:128642720G>C	ENST00000344954.6	+	4	718	c.330G>C	c.(328-330)gaG>gaC	p.E110D	FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.E143D|FLI1_ENST00000534087.1_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000281428.8_Missense_Mutation_p.E77D			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	143					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGGCTGGAGTGGGCCATAA	0.512000			T	EWSR1	Ewing sarcoma								15	350					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126618	32126618	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr5:32126618C>G	ENST00000265070.6	-	4	912	c.597G>C	c.(595-597)atG>atC	p.M199I		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	199					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GATGTGTTGTCATGTCAAAAA	0.428000													16	423					0	0	1	0	0
TRGV2	0	broad.mit.edu	37	7	38402925	38402925	+	RNA	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:38402925T>C	ENST00000426402.2	-	0	194																											TAGGGCCCACTGCATGCCTTC	0.507000													4	111					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30363725	30363725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:30363725C>T	ENST00000340513.4	+	8	1192	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.Q222*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	222					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TATGAAAATGCAGCAAGAGGT	0.433000													5	146					0	0	1	0	0
MSH5-SAPCD1	0	broad.mit.edu	37	6	31726367	31726367	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:31726367C>T	ENST00000493662.2	+	14	1293	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	MSH5_ENST00000395853.1_Missense_Mutation_p.L70F|MSH5_ENST00000534153.4_Missense_Mutation_p.L413F|MSH5_ENST00000431848.2_Missense_Mutation_p.L95F|MSH5_ENST00000375703.3_Missense_Mutation_p.L396F|MSH5_ENST00000375740.3_Missense_Mutation_p.L413F|MSH5_ENST00000375742.3_Missense_Mutation_p.L413F|MSH5_ENST00000375750.3_Missense_Mutation_p.L396F|MSH5_ENST00000375755.3_Missense_Mutation_p.L396F																							CTTCACAGTCCTCCCCAACAT	0.532000													8	115					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541832	133541832	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:133541832T>G	ENST00000409261.1	-	14	2925	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCTGAGCTCTCAGTCTTCAT	0.537000													7	244					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214023	7214023	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:7214023G>A	ENST00000361972.4	-	19	2339	c.2249C>T	c.(2248-2250)gCg>gTg	p.A750V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	750					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCACCTCCGCCGACGAGGT	0.721000													4	32					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370527	129370527	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:129370527C>A	ENST00000370978.4	-	7	733	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	194	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAGGAACATCTTCACTGGTC	0.363000													4	159					0.150653	0.150653	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25261108	25261108	+	Missense_Mutation	SNP	C	C	T	rs144175383	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:25261108C>T	ENST00000276440.7	+	48	5005	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1654						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAAGCCGCACGGGGTCTATT	0.532000													12	462					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467117	25467117	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:25467117G>A	ENST00000264709.3	-	15	2095	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000380746.4_Silent_p.C397C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	586	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGTGCCCGCACATGTAGC	0.612000			"""Mis, F, N, S"""		AML								25	44					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378000													4	207					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47325654	47325654	+	RNA	DEL	T	T	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:47325654delT	ENST00000505841.1	-	0	1070					NR_002788.2																						AACTGTAAGCTTTTTTTTCGC	0.373													2	4	---	---	---	---					
LINC00857	0	broad.mit.edu	37	10	81975482	81975483	+	RNA	INS	-	-	TCTTTCTT	rs61081450		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:81975482_81975483insTCTTTCTT	ENST00000422847.1	+	0	522					NR_038464.1																						Ctctttctttctctttctttct	0.401													2	4	---	---	---	---					
GDPD4	220032	broad.mit.edu	37	11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1540_splice	c.e17-1	p.514_splice	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTATGTGCAAatctatctatctat	0.471													7	171	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579328	7579328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7579328delT	ENST00000420246.2	-	4	491	c.359delA	c.(358-360)agfs	p.K120fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)		AGTCACAGACTTGGCTGTCCC	0.567		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)			79	92	---	---	---	---					
CNTD1	124817	broad.mit.edu	37	17	40957798	40957800	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:40957798_40957800delAAG	ENST00000588408.1	+	4	752_754	c.476_478delAAG	c.(475-480)aaa>a	p.KE159del	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_In_Frame_Del_p.KE76del	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	159	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTACACACTAAAGAAGAACTGCT	0.419													9	116	---	---	---	---