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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
SORT1	6272	broad.mit.edu	37	1	109888457	109888458	+	Frame_Shift_Ins	INS	-	-	GTTATATTTAGTA			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:109888457_109888458insGTTATATTTAGTA	ENST00000256637.6	-	8	936_937	c.878_879insTACTAAATATAAC	c.(877-879)ggafs	p.-293fs	SORT1_ENST00000538502.1_Frame_Shift_Ins_p.-156fs	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	NA					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAAGCTTTTTCCCAAGTCTGA	0.396		NA											False	0	True	1:109888457	0
HIPK3	10114	broad.mit.edu	37	11	33308618	33308619	+	In_Frame_Ins	INS	-	-	TTC			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:33308618_33308619insTTC	ENST00000303296.4	+	2	963_964	c.658_659insTTC	c.(658-660)aat>aTTCat	p.220_220N>IH	HIPK3_ENST00000525975.1_In_Frame_Ins_p.220_220N>IH|HIPK3_ENST00000456517.1_In_Frame_Ins_p.220_220N>IH|HIPK3_ENST00000379016.3_In_Frame_Ins_p.220_220N>IH	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	220	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AAGAGGGACAAATGAAATTGTA	0.391		NA											False	0	True	11:33308618	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
ANKRD13A	88455	broad.mit.edu	37	12	110463620	110463621	+	In_Frame_Ins	INS	-	-	AAAACA			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:110463620_110463621insAAAACA	ENST00000261739.4	+	8	1041_1042	c.875_876insAAAACA	c.(874-879)agatat>agAAAACAatat	p.292_293RY>RKQY		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	292										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGTA	0.401		NA											False	0	False	12:110463620	0
ANKRD13A	88455	broad.mit.edu	37	12	110463622	110463623	+	Frame_Shift_Ins	INS	-	-	CCAGCAAA			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:110463622_110463623insCCAGCAAA	ENST00000261739.4	+	8	1043_1044	c.877_878insCCAGCAAA	c.(877-879)tatfs	p.Y293fs		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	293										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAAAGAGATATAAAGGTAAT	0.401		NA											False	0	False	12:110463622	0
PIWIL1	9271	broad.mit.edu	37	12	130830394	130830395	+	In_Frame_Ins	INS	-	-	AACAAT			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:130830394_130830395insAACAAT	ENST00000245255.3	+	4	559_560	c.287_288insAACAAT	c.(286-291)aaccta>aaAACAATccta	p.96_96N>KTI		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	96					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACAAGGCAGAACCTAGACCATG	0.396		NA											False	0	False	12:130830394	0
RBL2	5934	broad.mit.edu	37	16	53488708	53488709	+	Frame_Shift_Ins	INS	-	-	CATT			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:53488708_53488709insCATT	ENST00000262133.6	+	8	1270_1271	c.1133_1134insCATT	c.(1132-1137)gctgaafs	p.E379fs	RBL2_ENST00000544545.1_Frame_Shift_Ins_p.E163fs|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	379					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGAGACTGCTGAAAGGGTGC	0.465		NA											False	0	False	16:53488708	0
RABEP1	9135	broad.mit.edu	37	17	5257748	5257749	+	In_Frame_Ins	INS	-	-	CAT			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:5257748_5257749insCAT	ENST00000546142.2	+	8	1245_1246	c.1058_1059insCAT	c.(1057-1062)actcaa>acCATtcaa	p.353_354TQ>TIQ	RABEP1_ENST00000537505.1_In_Frame_Ins_p.310_311TQ>TIQ|RABEP1_ENST00000408982.2_In_Frame_Ins_p.353_354TQ>TIQ|RABEP1_ENST00000341923.6_In_Frame_Ins_p.353_354TQ>TIQ|RABEP1_ENST00000262477.6_In_Frame_Ins_p.353_354TQ>TIQ			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	353					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGTGCTTTAACTCAAGAAGAAT	0.322		NA											False	0	False	17:5257748	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
ZNF583	147949	broad.mit.edu	37	19	56925441	56925442	+	Frame_Shift_Ins	INS	-	-	CTAAG			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56925441_56925442insCTAAG	ENST00000333201.9	+	3	333_334	c.123_124insCTAAG	c.(124-126)ttgfs	p.-42fs	ZNF583_ENST00000291598.7_Frame_Shift_Ins_p.-42fs	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ACTACAGGAGCTTGGTATCATT	0.441		NA											False	0	False	19:56925441	0
ZNF583	147949	broad.mit.edu	37	19	56925443	56925444	+	Frame_Shift_Ins	INS	-	-	AAAAA			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56925443_56925444insAAAAA	ENST00000333201.9	+	3	335_336	c.125_126insAAAAA	c.(124-129)ttggtafs	p.V43fs	ZNF583_ENST00000291598.7_Frame_Shift_Ins_p.V43fs	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TACAGGAGCTTGGTATCATTGG	0.441		NA											False	0	False	19:56925443	0
RPS6KA3	6197	broad.mit.edu	37	X	20185851	20185852	+	Frame_Shift_Ins	INS	-	-	TTTCCTTTATGTTTGAGCTAGAATTAGATAGAAATTA			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:20185851_20185852insTTTCCTTTATGTTTGAGCTAGAATTAGATAGAAATTA	ENST00000379565.3	-	17	1664_1665	c.1457_1458insTAATTTCTATCTAATTCTAGCTCAAACATAAAGGAAA	c.(1456-1458)ggafs	p.-486fs	RPS6KA3_ENST00000544447.1_Frame_Shift_Ins_p.-458fs|RPS6KA3_ENST00000540702.1_Frame_Shift_Ins_p.-457fs|RPS6KA3_ENST00000379548.4_Frame_Shift_Ins_p.-456fs|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	NA					axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACACATACTTTCCATCATCATA	0.297		NA											False	0	True	X:20185851	0
GPR50	9248	broad.mit.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs113250614		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels).		cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608		NA											False	1	False	X:150349558	0
MSH2	4436	broad.mit.edu	37	2	47637485	47637486	+	Frame_Shift_Ins	INS	-	-	C	rs141718852		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:47637485_47637486insC	ENST00000406134.1	+	3	681_682	c.619_620insC	c.(619-621)gctfs	p.A207fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.A141fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.A207fs			P43246	MSH2_HUMAN	mutS homolog 2	207					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAGAGACTGCTGGAGACATG	0.45		NA	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	1	False	2:47637485	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
COPS7B	64708	broad.mit.edu	37	2	232672287	232672288	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:232672287_232672288insA	ENST00000409295.1	+	6	771_772	c.625_626insA	c.(625-627)cacfs	p.H209fs	COPS7B_ENST00000410017.1_Frame_Shift_Ins_p.T266fs|COPS7B_ENST00000350033.3_Frame_Shift_Ins_p.H243fs|COPS7B_ENST00000410024.1_Frame_Shift_Ins_p.H243fs|COPS7B_ENST00000409091.1_Frame_Shift_Ins_p.H136fs|COPS7B_ENST00000373608.3_Frame_Shift_Ins_p.T261fs			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	243					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGTCCCCCTCACGCTGAGCAG	0.614		NA											False	1	False	2:232672287	0
NKTR	4820	broad.mit.edu	37	3	42675204	42675206	+	In_Frame_Del	DEL	TGT	TGT	-	rs149734658	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:42675204_42675206delTGT	ENST00000232978.8	+	10	1094_1096	c.906_908delTGT	c.(904-909)cctgtt>cct	p.V304del	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	304					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGATATGCCTGTTGTTACTGCA	0.433		NA											False	2	False	3:42675204	0
CARD6	84674	broad.mit.edu	37	5	40843472	40843473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:40843472_40843473insT	ENST00000381677.3	+	2	577_578	c.502_503insT	c.(502-504)gaafs	p.E168fs	CARD6_ENST00000254691.5_Frame_Shift_Ins_p.E168fs			Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	168					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGAGAAGGAATATGACACA	0.381		NA											False	0	False	5:40843472	0
CARD6	84674	broad.mit.edu	37	5	40843473	40843474	+	Frame_Shift_Ins	INS	-	-	CTGTATTCTC			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:40843473_40843474insCTGTATTCTC	ENST00000381677.3	+	2	578_579	c.503_504insCTGTATTCTC	c.(502-507)gaatatfs	p.EY168fs	CARD6_ENST00000254691.5_Frame_Shift_Ins_p.EY168fs			Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	168					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATGAGAAGGAATATGACACAC	0.381		NA											False	0	False	5:40843473	0
AP3B1	8546	broad.mit.edu	37	5	77423982	77423983	+	In_Frame_Ins	INS	-	-	AGG			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:77423982_77423983insAGG	ENST00000519295.1	-	17	1963_1964	c.1692_1693insCCT	c.(1690-1695)gataga>gatCCTaga	p.564_565DR>DPR	AP3B1_ENST00000255194.6_In_Frame_Ins_p.613_614DR>DPR	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAATGATCTCTATCTATTAAAA	0.371		NA							Hermansky-Pudlak syndrome				False	0	True	5:77423982	0
AP3B1	8546	broad.mit.edu	37	5	77423984	77423985	+	Splice_Site	INS	-	-	AG			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:77423984_77423985insAG	ENST00000519295.1	-	17	1962	c.1691_1691insCT	c.(1690-1692)gat>gCTat	p.D564fs	AP3B1_ENST00000255194.6_Splice_Site_p.D613fs	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGATCTCTATCTATTAAAAAT	0.366		NA							Hermansky-Pudlak syndrome				False	0	True	5:77423984	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
GPR98	84059	broad.mit.edu	37	5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441		NA											False	0	False	5:90086832	0
MDN1	23195	broad.mit.edu	37	6	90459470	90459471	+	Splice_Site	INS	-	-	AT			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:90459470_90459471insAT	ENST00000369393.3	-	25	3522	c.3407_3407insAT	c.(3406-3408)ggt>gATgt	p.G1136fs	MDN1_ENST00000428876.1_Splice_Site_p.G1136fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1136					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATAAGAACACCTAGGAAGAAA	0.337		NA											False	0	False	6:90459470	0
MDN1	23195	broad.mit.edu	37	6	90459471	90459472	+	Splice_Site	INS	-	-	AGA			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:90459471_90459472insAGA	ENST00000369393.3	-	25	3522		c.e25-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	NA					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATAAGAACACCTAGGAAGAAAC	0.337		NA											False	0	False	6:90459471	0
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Frame_Shift_Del	DEL	C	C	-	rs72613250		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:109850201delC	ENST00000355283.1	-	5	1129	c.883delG	c.(883-885)gttfs	p.V295fs	AK9_ENST00000341338.6_Intron|AK9_ENST00000424296.2_Intron					adenylate kinase 9	NA											NA						aaaaaaaaaacaaaaCTACTT	0.413		NA											False	1	True	6:109850201	0
GPRC6A	0	broad.mit.edu	37	6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-	rs78807485		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	517					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302		NA											False	1	False	6:117116998	0
MTUS1	57509	broad.mit.edu	37	8	17612188	17612192	+	Frame_Shift_Del	DEL	TGTCT	TGTCT	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	TGTCT	TGTCT	-	-	TGTCT	TGTCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:17612188_17612192delTGTCT	ENST00000262102.6	-	2	1349_1353	c.1125_1129delAGACA	c.(1123-1131)gaagacacafs	p.EDT375fs	MTUS1_ENST00000381869.3_Frame_Shift_Del_p.EDT375fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.EDT375fs|MTUS1_ENST00000381862.3_Frame_Shift_Del_p.EDT375fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	375						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCATTTGTGTGTCTTCAGTCTCAG	0.444		NA											False	1	True	8:17612188	0
CSMD3	114788	broad.mit.edu	37	8	114326968	114326968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:114326968delC	ENST00000297405.5	-	2	477	c.233delG	c.(232-234)agcfs	p.S78fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.S78fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.S78fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.S38fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	78	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACCAGGGCTTTCTATAGT	0.318		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	1	True	8:114326968	0
CCDC18	343099	broad.mit.edu	37	1	93704961	93704962	+	Frame_Shift_Ins	INS	-	-	CTAACTTGTCTCTGACTAAAAAAAAAGCC			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:93704961_93704962insCTAACTTGTCTCTGACTAAAAAAAAAGCC	ENST00000343253.7	+	20	3197_3198	c.2695_2696insCTAACTTGTCTCTGACTAAAAAAAAAGCC	c.(2695-2697)atgfs	p.M899fs	CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.M655fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.M1018fs|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.M900fs|CCDC18_ENST00000334652.5_Frame_Shift_Ins_p.M195fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	899										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATAAAGCAATGCACCTCTCT	0.361		NA											False	0	False	1:93704961	0
KLRC3	3823	broad.mit.edu	37	12	10569320	10569320	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:10569320C>T	ENST00000396439.2	-	5	577	c.533G>A	c.(532-534)cGt>cAt	p.R178H	NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R178H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R178H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3	NA										large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTGCTGTTACGAAACACACC	0.294		NA											False	0	False	12:10569320	0
FBN2	2201	broad.mit.edu	37	5	127866347	127866347	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:127866347C>T	ENST00000508053.1	-	9	1351	c.377G>A	c.(376-378)cGt>cAt	p.R126H	FBN2_ENST00000508989.1_Intron|FBN2_ENST00000262464.4_Missense_Mutation_p.R126H			P35556	FBN2_HUMAN	fibrillin 2	126	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGTTAGGACGGGAACAAAA	0.338		NA											False	0	True	5:127866347	0
LHX5	64211	broad.mit.edu	37	12	113905137	113905137	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:113905137C>T	ENST00000261731.3	-	4	1338	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	255						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCATGCGCCGCGGACTCCGGA	0.657		NA											False	0	False	12:113905137	0
TLR6	10333	broad.mit.edu	37	4	38830874	38830874	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:38830874A>G	ENST00000436693.2	-	2	340	c.221T>C	c.(220-222)tTt>tCt	p.F74S	TLR6_ENST00000381950.1_Missense_Mutation_p.F74S	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	74					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGATAGAAAGCTCATGTC	0.378		NA											False	0	True	4:38830874	0
OBSCN	84033	broad.mit.edu	37	1	228467880	228467880	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:228467880C>T	ENST00000570156.2	+	34	9025	c.8951C>T	c.(8950-8952)gCg>gTg	p.A2984V	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Splice_Site_p.A2555V|OBSCN_ENST00000359599.6_Splice_Site_p.A1402V|OBSCN_ENST00000422127.1_Splice_Site_p.A2555V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1985	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCTTGCAGCGCGGGAGGTG	0.642		NA											False	0	False	1:228467880	0
ACTG2	72	broad.mit.edu	37	2	74135852	74135852	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:74135852C>T	ENST00000409624.1	+	5	951	c.308C>T	c.(307-309)cCc>cTc	p.P103L	ACTG2_ENST00000345517.3_Missense_Mutation_p.P103L|ACTG2_ENST00000409731.3_Missense_Mutation_p.P60L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	103					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GAAGAGCACCCCACCCTGCTC	0.527		NA											False	0	True	2:74135852	0
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:75579249C>T	ENST00000568377.1	-	3	708		c.e3+1		RP11-77K12.7_ENST00000460606.1_Splice_Site|TMEM231_ENST00000569294.1_Splice_Site|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Intron|TMEM231_ENST00000258173.6_Splice_Site	NM_001077416.1	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231	NA						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507		NA											False	0	False	16:75579249	0
HS3ST2	9956	broad.mit.edu	37	16	22926868	22926868	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:22926868C>A	ENST00000261374.3	+	2	1523	c.1089C>A	c.(1087-1089)gaC>gaA	p.D363E		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	363						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTGGGCAGGACTTCAGGTGGG	0.463		NA											False	0	False	16:22926868	0
SLC10A2	6555	broad.mit.edu	37	13	103718456	103718456	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:103718456G>A	ENST00000245312.3	-	1	740	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	48					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCCCATGGAGAACATCA	0.493		NA											False	0	False	13:103718456	0
TRIM37	4591	broad.mit.edu	37	17	57093064	57093064	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:57093064C>T	ENST00000376149.3	-	21	2926	c.2117G>A	c.(2116-2118)cGg>cAg	p.R706Q	TRIM37_ENST00000393066.3_Missense_Mutation_p.R828Q|TRIM37_ENST00000393065.2_Missense_Mutation_p.R794Q|TRIM37_ENST00000262294.7_Missense_Mutation_p.R828Q			O94972	TRI37_HUMAN	tripartite motif containing 37	828						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACACTGCCGGTCTTCAGT	0.502		NA							Mulibrey Nanism				False	0	False	17:57093064	0
TRAV34	0	broad.mit.edu	37	14	22676006	22676006	+	RNA	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:22676006C>A	ENST00000390461.2	+	0	330										NA											NA						ATGCAGGCATCTACCTCTGTG	0.517		NA											False	0	False	14:22676006	0
P2RY8	286530	broad.mit.edu	37	X	1584907	1584907	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:1584907G>A	ENST00000381297.4	-	2	755	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	182						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGAGCATCGTCCACTTGAG	0.632		NA	T	CRLF2	"""B-ALL, Downs associated ALL"""								False	0	False	X:1584907	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537764	75537764	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:75537764T>G	ENST00000524913.1	+	2	977	c.488T>G	c.(487-489)gTc>gGc	p.V163G	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.V163G|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.V163G	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	163											NA						GACCATAATGTCTACCCAAGG	0.537		NA											False	0	False	14:75537764	0
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	C	T	rs115035120	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:103124188C>T	ENST00000428762.1	-	62	10252	c.10093G>A	c.(10093-10095)Gtc>Atc	p.V3365I	RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.V3365I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3365I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3365					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGTTGACGCTGTATTGC	0.552		NA											False	0	False	7:103124188	0
ZNF733P	0	broad.mit.edu	37	7	62752318	62752318	+	RNA	SNP	T	T	C	rs139668717	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:62752318T>C	ENST00000331425.6	-	0	1117					NR_003952.1					NA											NA						ACATTCTTCATATGTGTAGGG	0.433		NA											False	0	False	7:62752318	0
ADAMTS5	11096	broad.mit.edu	37	21	28338459	28338459	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:28338459G>A	ENST00000284987.5	-	1	373	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	84					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACCTTGCCGCCGCCGGAGT	0.697		NA											False	0	True	21:28338459	0
C4orf40	401137	broad.mit.edu	37	4	71024100	71024100	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71024100T>C	ENST00000344526.5	+	3	320	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C4orf40_ENST00000502294.1_Missense_Mutation_p.I44T|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	44			I -> L (in dbSNP:rs1612460).	I -> V (in Ref. 1; CAE45962).		extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTATGGCATACGGAATTTA	0.438		NA											False	0	False	4:71024100	0
DNAH10	196385	broad.mit.edu	37	12	124352474	124352474	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:124352474G>T	ENST00000409039.3	+	42	6998	c.6973G>T	c.(6973-6975)Gat>Tat	p.D2325Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2325					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGATGTTGGATGCGTTGCT	0.512		NA											False	0	False	12:124352474	0
SMARCE1	6605	broad.mit.edu	37	17	38792702	38792702	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:38792702C>T	ENST00000348513.6	-	6	1094	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R35Q|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R70Q|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R70Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R35Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R87Q|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R35Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	105					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				AGTGAGATCTCGCCACATGCC	0.408		NA											False	0	False	17:38792702	0
NRK	203447	broad.mit.edu	37	X	105153065	105153065	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:105153065C>T	ENST00000428173.2	+	13	1738	c.1435C>T	c.(1435-1437)Ctc>Ttc	p.L479F	NRK_ENST00000243300.9_Missense_Mutation_p.L478F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	478	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGCCAGGGTGCTCATGCCACT	0.547		NA								HNSCC(51;0.14)			False	0	False	X:105153065	0
DEFB119	245932	broad.mit.edu	37	20	29976959	29976959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:29976959G>A	ENST00000376315.2	-	2	135	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458		NA											False	0	False	20:29976959	0
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:17415843G>A	ENST00000302539.4	-	37	4643	c.4518C>T	c.(4516-4518)gaC>gaT	p.D1506D	ABCC8_ENST00000389817.3_Silent_p.D1505D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2.		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCGTGGCCTCGTCCATGATGA	0.577		NA											False	0	False	11:17415843	0
NLRP5	126206	broad.mit.edu	37	19	56545008	56545008	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56545008A>C	ENST00000390649.3	+	9	2548	c.2548A>C	c.(2548-2550)Aag>Cag	p.K850Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	850						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACCCACCTGAAGGAAGAGGA	0.478		NA											False	0	True	19:56545008	0
RECK	8434	broad.mit.edu	37	9	36058869	36058869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:36058869C>T	ENST00000377966.3	+	3	771	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	69	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTGTTGCAGCGAGCCCCAGA	0.333		NA											False	0	False	9:36058869	0
ZNF721	170960	broad.mit.edu	37	4	435583	435583	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:435583T>G	ENST00000338977.5	-	2	2685	c.2637A>C	c.(2635-2637)aaA>aaC	p.K879N	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.K891N|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721	NA										endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACGTGTAGGGTTTCTCTCCAG	0.383		NA											False	0	True	4:435583	0
CRB2	286204	broad.mit.edu	37	9	126129592	126129592	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:126129592G>A	ENST00000373631.3	+	5	897	c.896G>A	c.(895-897)cGc>cAc	p.R299H	CRB2_ENST00000359999.3_Missense_Mutation_p.R299H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	299	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTCAGCTTCCGCCATGCTGCG	0.687		NA											False	0	False	9:126129592	0
CASC5	57082	broad.mit.edu	37	15	40898600	40898600	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:40898600C>G	ENST00000346991.5	+	4	475	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	CASC5_ENST00000399668.2_Missense_Mutation_p.P29A|CASC5_ENST00000527044.1_Missense_Mutation_p.P29A			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	29	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATATTGAAACCCCCAAGGAG	0.318		NA											False	0	True	15:40898600	0
ATR	545	broad.mit.edu	37	3	142185227	142185227	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:142185227T>G	ENST00000350721.4	-	40	6957	c.6836A>C	c.(6835-6837)aAc>aCc	p.N2279T	ATR_ENST00000383101.3_Missense_Mutation_p.N2215T|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2279					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTAGCATGGTTAGCATGGGT	0.368		NA						Other conserved DNA damage response genes					False	0	False	3:142185227	0
PTPRD	5789	broad.mit.edu	37	9	8492935	8492935	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:8492935G>A	ENST00000381196.4	-	24	2937	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	PTPRD_ENST00000356435.5_Silent_p.L798L|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.L785L|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Silent_p.L776L|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.L798L|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	798	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTGACGGTGAGGGAGTAGG	0.493		NA								TSP Lung(15;0.13)			False	0	False	9:8492935	0
FSHR	0	broad.mit.edu	37	2	49190896	49190896	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:49190896G>T	ENST00000406846.2	-	10	1183	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	FSHR_ENST00000541117.1_Missense_Mutation_p.P91Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P293Q|FSHR_ENST00000304421.4_Missense_Mutation_p.P329Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	355					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453		NA							Gonadal Dysgenesis, 46 XX				False	0	True	2:49190896	0
BAI2	576	broad.mit.edu	37	1	32222194	32222194	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32222194G>C	ENST00000373658.3	-	4	585	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BAI2_ENST00000398542.1_Missense_Mutation_p.R70G|BAI2_ENST00000257070.4_Missense_Mutation_p.R82G|BAI2_ENST00000398538.1_Missense_Mutation_p.R70G|BAI2_ENST00000527361.1_Missense_Mutation_p.R82G|BAI2_ENST00000398556.3_Missense_Mutation_p.R85G|BAI2_ENST00000398547.1_Missense_Mutation_p.R70G|BAI2_ENST00000373655.2_Missense_Mutation_p.R82G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	82					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGTTGAAGCGCAGGTAGAGG	0.647		NA											False	0	False	1:32222194	0
RP1L1	94137	broad.mit.edu	37	8	10468915	10468915	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:10468915G>A	ENST00000382483.3	-	4	2916	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	898					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGGACGGCGTGGGGCCTGG	0.701		NA											False	0	False	8:10468915	0
SFRP2	6423	broad.mit.edu	37	4	154709592	154709592	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:154709592G>A	ENST00000274063.4	-	1	680	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	132	FZ.			Missing (in Ref. 7; AAB70792).	brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGGGGAAGCCGAAGGCGGACA	0.662		NA											False	0	False	4:154709592	0
OR5L2	26338	broad.mit.edu	37	11	55595169	55595169	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:55595169C>A	ENST00000378397.1	+	1	475	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTCTGATTCACTCGTCCTT	0.483		NA								HNSCC(27;0.073)			False	0	False	11:55595169	0
MED12L	116931	broad.mit.edu	37	3	151129293	151129293	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:151129293G>A	ENST00000474524.1	+	39	6071	c.6033G>A	c.(6031-6033)caG>caA	p.Q2011Q	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2011	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGCTCTCAGAGGTGATACA	0.478		NA											False	0	False	3:151129293	0
STXBP1	6812	broad.mit.edu	37	9	130442473	130442473	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:130442473C>G	ENST00000373302.3	+	17	1638	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R	STXBP1_ENST00000373299.1_Missense_Mutation_p.P500R|STXBP1_ENST00000481942.1_Intron	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	500					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAACACTACCCTTATATCTCT	0.488		NA											False	0	True	9:130442473	0
HELQ	113510	broad.mit.edu	37	4	84375061	84375061	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:84375061T>C	ENST00000295488.3	-	2	497	c.335A>G	c.(334-336)gAt>gGt	p.D112G	HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Missense_Mutation_p.D112G	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTAAAGCTATCATAGTCACC	0.378		NA						Other identified genes with known or suspected DNA repair function					False	0	False	4:84375061	0
TTN	7273	broad.mit.edu	37	2	179574354	179574354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:179574354G>T	ENST00000589042.1	-	99	28916	c.28692C>A	c.(28690-28692)taC>taA	p.Y9564*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y8320*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y9247*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9247							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)			CTTTGCATGTGTACAAACCAG	0.438		NA											False	0	False	2:179574354	0
ATPAF1	64756	broad.mit.edu	37	1	47123857	47123857	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:47123857A>T	ENST00000576409.1	-	4	562	c.500T>A	c.(499-501)cTc>cAc	p.L167H	ATPAF1_ENST00000574428.1_Missense_Mutation_p.L144H|ATPAF1_ENST00000371937.4_Missense_Mutation_p.L144H|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000532925.1_Missense_Mutation_p.L56H|ATPAF1_ENST00000329231.4_Missense_Mutation_p.L167H			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	144					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GATTGAACTGAGAGTCTTGAA	0.323		NA											False	0	False	1:47123857	0
NUP205	23165	broad.mit.edu	37	7	135258466	135258466	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:135258466G>T	ENST00000285968.6	+	3	262	c.236G>T	c.(235-237)gGt>gTt	p.G79V	NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	79					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCATTCAGGGTCAACAGGGA	0.398		NA											False	0	True	7:135258466	0
IRF7	3665	broad.mit.edu	37	11	613476	613476	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:613476C>T	ENST00000397566.1	-	7	1415	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	IRF7_ENST00000525445.1_Missense_Mutation_p.A217T|IRF7_ENST00000330243.5_Missense_Mutation_p.A336T|IRF7_ENST00000397570.1_Missense_Mutation_p.A294T|IRF7_ENST00000348655.6_Missense_Mutation_p.A294T|IRF7_ENST00000397574.2_Missense_Mutation_p.A323T|IRF7_ENST00000397562.3_Missense_Mutation_p.A30T	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	323					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCTGTGGCCCGGACAGCT	0.672		NA											False	0	True	11:613476	0
GPI	2821	broad.mit.edu	37	19	34868485	34868485	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:34868485C>T	ENST00000356487.5	+	5	721	c.480C>T	c.(478-480)tcC>tcT	p.S160S	GPI_ENST00000586425.1_Silent_p.S160S|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	160					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCGGCTCCGACCTGGTGA	0.597		NA											False	0	False	19:34868485	0
GPR179	440435	broad.mit.edu	37	17	36499508	36499508	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:36499508C>T	ENST00000342292.4	-	1	185	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CGGCCTCGGCCCCCTCTAGGG	0.637		NA											False	0	True	17:36499508	0
BTBD6	90135	broad.mit.edu	37	14	105716868	105716868	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:105716868C>T	ENST00000463376.2	+	3	1633	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	BTBD6_ENST00000392554.3_Silent_p.S439S|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Silent_p.S364S|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Silent_p.S439S|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	439						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		TGGACGGCAGCGAACTCAGCT	0.592		NA											False	0	False	14:105716868	0
LAMC1	3915	broad.mit.edu	37	1	182992997	182992997	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:182992997G>T	ENST00000258341.4	+	1	403	c.146G>T	c.(145-147)cGc>cTc	p.R49L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	49	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGCAGCGCTGCATGCCC	0.721		NA											False	0	False	1:182992997	0
PRR23B	389151	broad.mit.edu	37	3	138738751	138738751	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:138738751C>T	ENST00000329447.5	-	1	1017	c.753G>A	c.(751-753)ccG>ccA	p.P251P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCGTTCCGGGAGCGGCG	0.667		NA											False	0	True	3:138738751	0
LRRN2	10446	broad.mit.edu	37	1	204588995	204588995	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:204588995C>T	ENST00000367175.1	-	1	2338	c.126G>A	c.(124-126)acG>acA	p.T42T	LRRN2_ENST00000367177.3_Silent_p.T42T|LRRN2_ENST00000367176.3_Silent_p.T42T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	42	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACGAGCGGGGCGTATACCAGG	0.667		NA											False	0	True	1:204588995	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			False	0	False	17:7577538	0
ENAM	10117	broad.mit.edu	37	4	71510452	71510452	+	Silent	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71510452A>G	ENST00000396073.3	+	9	3590	c.3309A>G	c.(3307-3309)gaA>gaG	p.E1103E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1103					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTACTGAGGAACAATTTAAGA	0.428		NA											False	0	False	4:71510452	0
NCBP2L	392517	broad.mit.edu	37	X	107037529	107037529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:107037529C>T	ENST00000509000.2	+	2	277	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	NCBP2L_ENST00000372379.2_Missense_Mutation_p.R27C					nuclear cap binding protein subunit 2-like	NA										large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GTTCAGTGGCCGTAAATTTCA	0.438		NA											False	0	False	X:107037529	0
MAP3K10	4294	broad.mit.edu	37	19	40711866	40711866	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:40711866C>T	ENST00000253055.3	+	5	1525	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	413					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACAGGAGCAGCGCTTCCAGGA	0.672		NA											False	0	False	19:40711866	0
CCDC28B	79140	broad.mit.edu	37	1	32669888	32669888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32669888G>A	ENST00000421922.2	+	4	533	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CCDC28B_ENST00000373602.5_Missense_Mutation_p.D145N|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	145										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAGGAGGACGATGAAGAGGA	0.577		NA											False	0	False	1:32669888	0
SIM1	6492	broad.mit.edu	37	6	100896021	100896021	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:100896021C>T	ENST00000369208.3	-	8	1633		c.e8+1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	NA					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGCGCCTTACGCAAATGGTG	0.617		NA											False	0	False	6:100896021	0
TENM4	26011	broad.mit.edu	37	11	78369429	78369429	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:78369429G>A	ENST00000278550.7	-	34	8446	c.7984C>T	c.(7984-7986)Cgc>Tgc	p.R2662C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						TCTGTGTAGCGTCTAGTCCTG	0.602		NA											False	0	False	11:78369429	0
COL13A1	1305	broad.mit.edu	37	10	71683572	71683572	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:71683572C>T	ENST00000356340.3	+	22	1748	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	COL13A1_ENST00000398968.3_Silent_p.V385V|COL13A1_ENST00000520267.1_Silent_p.V347V|COL13A1_ENST00000398966.3_Silent_p.V382V|COL13A1_ENST00000398972.3_Silent_p.V404V|COL13A1_ENST00000357811.3_Silent_p.V382V|COL13A1_ENST00000520133.1_Silent_p.V353V|COL13A1_ENST00000398969.3_Silent_p.V347V|COL13A1_ENST00000398974.3_Silent_p.V392V|COL13A1_ENST00000398964.3_Silent_p.V375V|COL13A1_ENST00000354547.3_Silent_p.V382V|COL13A1_ENST00000398971.3_Silent_p.V404V|COL13A1_ENST00000517713.1_Silent_p.V382V|COL13A1_ENST00000398978.3_Silent_p.V404V|COL13A1_ENST00000522165.1_Silent_p.V385V|COL13A1_ENST00000398973.3_Silent_p.V404V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	404	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGCAGGTGTCGATGGCCAGG	0.592		NA											False	0	False	10:71683572	0
MDGA1	266727	broad.mit.edu	37	6	37631799	37631799	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:37631799G>A	ENST00000297153.7	-	2	1329	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	MDGA1_ENST00000505425.1_Missense_Mutation_p.R51W|MDGA1_ENST00000434837.3_Missense_Mutation_p.R51W			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	51	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCCCCCTCCCGGATGGTGTAG	0.637		NA											False	0	True	6:37631799	0
PGM2	55276	broad.mit.edu	37	4	37863199	37863199	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:37863199C>A	ENST00000381967.4	+	14	1905	c.1805C>A	c.(1804-1806)cCa>cAa	p.P602Q	PGM2_ENST00000537241.1_Missense_Mutation_p.P442Q	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	602					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTTTCCAGCCACAGAAGTAC	0.403		NA											False	0	False	4:37863199	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
PNPLA7	375775	broad.mit.edu	37	9	140357967	140357967	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:140357967G>A	ENST00000406427.1	-	29	3579	c.3243C>T	c.(3241-3243)taC>taT	p.Y1081Y	PNPLA7_ENST00000371457.1_Silent_p.Y662Y|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.Y1056Y	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1056	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGCACGCACGTACCACCACA	0.657		NA											False	0	True	9:140357967	0
CNPY2	10330	broad.mit.edu	37	12	56705037	56705037	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:56705037G>A	ENST00000273308.4	-	4	906	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.G122G	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	122	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CGATTCGGATGCCTTGTAGGT	0.502		NA											False	0	False	12:56705037	0
MECP2	4204	broad.mit.edu	37	X	153297998	153297998	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:153297998A>G	ENST00000303391.6	-	3	286	c.37T>C	c.(37-39)Tca>Cca	p.S13P	MECP2_ENST00000453960.2_Missense_Mutation_p.S25P|MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000407218.1_Missense_Mutation_p.S13P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	13					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCTTCTGACTTTTCTTCC	0.473		NA											False	0	False	X:153297998	0
ARID1A	8289	broad.mit.edu	37	1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:27106228C>T	ENST00000324856.7	+	20	6210	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1730*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532		NA	"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								False	0	False	1:27106228	0
MDGA2	161357	broad.mit.edu	37	14	47343307	47343307	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:47343307C>T	ENST00000426342.1	-	13	2386	c.1640G>A	c.(1639-1641)aGa>aAa	p.R547K	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845K|MDGA2_ENST00000399232.2_Missense_Mutation_p.R776K|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTGTATTTCTTGTTGCTGT	0.373		NA											False	0	True	14:47343307	0
PTGIS	5740	broad.mit.edu	37	20	48130848	48130848	+	Missense_Mutation	SNP	C	C	T	rs13306027		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:48130848C>T	ENST00000244043.4	-	7	969	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	314					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGGATACTCTCGAGCTCTCCG	0.587		NA											False	0	False	20:48130848	0
KMT2A	4297	broad.mit.edu	37	11	118307649	118307649	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:118307649G>T	ENST00000534358.1	+	1	445	c.422G>T	c.(421-423)gGc>gTc	p.G141V	KMT2A_ENST00000354520.4_Missense_Mutation_p.G141V|KMT2A_ENST00000389506.5_Missense_Mutation_p.G141V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						GGGGGAGGCGGCAGCGGAGAG	0.731		NA											False	0	False	11:118307649	0
SNX20	124460	broad.mit.edu	37	16	50711341	50711341	+	Missense_Mutation	SNP	C	C	T	rs34428900		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:50711341C>T	ENST00000300590.3	-	2	269	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SNX20_ENST00000330943.4_Missense_Mutation_p.D33N|SNX20_ENST00000423026.2_Missense_Mutation_p.D33N	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	33					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGCGGGAGGTCGGGGCCAGTG	0.617		NA											False	0	True	16:50711341	0
TRIP12	9320	broad.mit.edu	37	2	230660000	230660000	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:230660000G>A	ENST00000283943.5	-	25	3816	c.3638C>T	c.(3637-3639)gCa>gTa	p.A1213V	TRIP12_ENST00000389044.4_Missense_Mutation_p.A1261V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A943V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAACAAAGGTGCATTACCCAC	0.408		NA											False	0	False	2:230660000	0
