Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CD97	976	broad.mit.edu	37	19	14508888	14508888	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:14508888C>T	ENST00000242786.5	+	9	914	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CD97_ENST00000357355.3_Silent_p.F229F|CD97_ENST00000358600.3_Silent_p.F185F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	278					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTTCCCGATTCTTCGACAAAG	0.587000													5	74					0	0	0.021553	0	0
LYST	1130	broad.mit.edu	37	1	235972999	235972999	+	Silent	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:235972999A>G	ENST00000389794.3	-	5	1293	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	LYST_ENST00000389793.2_Silent_p.P373P|LYST_ENST00000536965.1_Silent_p.P373P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	373					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGTGCAAAAGGGTCAGGCT	0.383000													3	160					0	0	0.009096	0	0
RFX7	64864	broad.mit.edu	37	15	56393703	56393703	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:56393703G>T	ENST00000423270.1	-	7	664	c.665C>A	c.(664-666)gCt>gAt	p.A222D	RFX7_ENST00000317318.6_Missense_Mutation_p.A222D|RFX7_ENST00000559447.2_Missense_Mutation_p.A125D|RFX7_ENST00000422057.1_Missense_Mutation_p.A125D	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	125					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGACGGCAAGCAGAAGAGAT	0.423000													8	47					4.1943e-16	4.84796e-16	0.069234	1	0
F8	2157	broad.mit.edu	37	X	154250784	154250784	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:154250784C>T	ENST00000360256.4	-	1	244	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	15					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAGCAGAATCGCAAAAGGCA	0.448000													4	117					0	0	0.014758	0	0
ZNFX1	57169	broad.mit.edu	37	20	47863942	47863942	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:47863942C>T	ENST00000396105.1	-	14	5865	c.5619G>A	c.(5617-5619)aaG>aaA	p.K1873K	ZNFX1_ENST00000371752.1_Silent_p.K1873K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1873							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAATCACTTCCTTACAGTCAG	0.527000													10	66					0	0	0.080935	0	0
ASB5	140458	broad.mit.edu	37	4	177146412	177146412	+	Splice_Site	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:177146412C>T	ENST00000296525.3	-	2	390		c.e2+1		ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TAATATATTACCTGTGATAAT	0.363000													5	47					0	0	0.021553	0	0
DDX1	1653	broad.mit.edu	37	2	15770222	15770222	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:15770222A>G	ENST00000381341.2	+	26	2469	c.2080A>G	c.(2080-2082)Agg>Ggg	p.R694G	DDX1_ENST00000233084.3_Missense_Mutation_p.R694G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	694	Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CGGTCAGAAAAGGGCTGCTGG	0.373000													3	118					0	0	0.009096	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	49					0	0	0.021553	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215663	50215663	+	Silent	SNP	A	A	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:50215663A>C	ENST00000284509.6	-	17	1812	c.1671T>G	c.(1669-1671)ctT>ctG	p.L557L	ATP8B4_ENST00000559829.1_Silent_p.L557L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	557					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTTGGAATAAAGCTTTATCT	0.383000													4	40					0	0	0.014758	0	0
SLC52A3	113278	broad.mit.edu	37	20	746115	746115	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:746115C>T	ENST00000381944.3	-	2	545	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G102S			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	102					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										CTGTGGTGGCCGTCCAGCACC	0.597000													3	10					0	0	0.115264	0	0
USHBP1	83878	broad.mit.edu	37	19	17373676	17373676	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:17373676C>T	ENST00000252597.3	-	4	500	c.327G>A	c.(325-327)gtG>gtA	p.V109V	USHBP1_ENST00000431146.2_Silent_p.V45V|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	109							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCCCAGGGGGCACAGTCTCCT	0.667000													14	102					0	0	0.146539	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			6	22					0	0	0.021553	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147117	26147117	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:26147117G>A	ENST00000331351.5	+	2	1311	c.919G>A	c.(919-921)Gag>Aag	p.E307K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	307					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAAGAAACCCGAGATCCCCAC	0.537000													20	165					0	0	0.062417	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	57					0	0	0.093190	0	0
SMARCA1	6594	broad.mit.edu	37	X	128615129	128615129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:128615129G>A	ENST00000371122.4	-	18	2380	c.2251C>T	c.(2251-2253)Cga>Tga	p.R751*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R739*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R739*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	751					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCGTTCTCGTTTAGGAGGT	0.423000													11	49					0	0	0.105934	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													4	84					0	0	0.021553	0	0
ITGB8	3696	broad.mit.edu	37	7	20421356	20421356	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr7:20421356A>C	ENST00000222573.3	+	6	1492	c.808A>C	c.(808-810)Atc>Ctc	p.I270L	ITGB8_ENST00000537992.1_Missense_Mutation_p.I135L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	270	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TAAGAGTCATATCGGATGGCG	0.398000													3	47					0	0	0.014758	0	0
SH2D4A	63898	broad.mit.edu	37	8	19190591	19190591	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:19190591C>T	ENST00000265807.3	+	3	718	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	SH2D4A_ENST00000519207.1_Missense_Mutation_p.R103W|SH2D4A_ENST00000518040.1_Missense_Mutation_p.R58W	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	103						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGAGAGGGCCCGGCTGAAAGC	0.463000													8	68					0	0	0.047766	0	0
ANP32E	81611	broad.mit.edu	37	1	150202922	150202922	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:150202922C>G	ENST00000314136.8	-	3	680	c.311G>C	c.(310-312)aGt>aCt	p.S104T	ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369114.5_Missense_Mutation_p.S104T|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.S56T|ANP32E_ENST00000533654.1_Missense_Mutation_p.S104T	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	104						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTACTGTACTGAGATCTTT	0.343000													7	57					0	0	0.029380	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62857035	62857035	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:62857035G>A	ENST00000584306.1	-	11	3759	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R54W|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1077W|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R115W|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R195W	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1077						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAATTCTTCCGGGCTTGTAAC	0.483000													24	269					0	0	0.091800	0	0
MYH11	4629	broad.mit.edu	37	16	15841500	15841500	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:15841500C>T	ENST00000338282.6	-	19	2444	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	MYH11_ENST00000576790.1_Missense_Mutation_p.E780K|MYH11_ENST00000452625.2_Missense_Mutation_p.E787K|MYH11_ENST00000396324.3_Missense_Mutation_p.E787K|MYH11_ENST00000300036.5_Missense_Mutation_p.E780K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	780	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCGCTCCTCCTCTAGGTGG	0.498000			T	CBFB	AML								13	86					0	0	0.132662	0	0
STAT1	6772	broad.mit.edu	37	2	191843715	191843715	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:191843715G>A	ENST00000361099.3	-	21	2127	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G580G|STAT1_ENST00000392322.3_Silent_p.G580G|STAT1_ENST00000392323.2_Silent_p.G582G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	580	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGCTGATGAAGCCCATGATGC	0.522000													3	21					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126372350	126372350	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:126372350C>T	ENST00000394329.3	+	9	10192	c.10179C>T	c.(10177-10179)gtC>gtT	p.V3393V	FAT4_ENST00000335110.5_Silent_p.V1691V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3393	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAATGTCACCGTGCTTG	0.428000													19	161					0	0	0.055883	0	0
DUSP21	63904	broad.mit.edu	37	X	44703847	44703847	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:44703847G>A	ENST00000339042.4	+	1	599	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	157	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E157K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CATCAATTACGAATTCAAGCT	0.498000													9	54					0	0	0.058154	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	G	A	rs76435412	by1000genomes	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:29625895G>A	ENST00000278882.3	+	5	519	c.139G>A	c.(139-141)Gga>Aga	p.G47R	FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R|FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343000													10	71					0	0	0.105934	0	0
TTLL10	254173	broad.mit.edu	37	1	1117129	1117129	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:1117129A>T	ENST00000379290.1	+	9	937	c.764A>T	c.(763-765)aAg>aTg	p.K255M	TTLL10_ENST00000379288.3_Missense_Mutation_p.K182M|TTLL10_ENST00000379289.1_Missense_Mutation_p.K255M			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	255	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTGGAAAAGGACGCAGCA	0.672000													3	12					0	0	0.115264	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752766	41752766	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr22:41752766G>A	ENST00000352645.4	+	22	2892	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G879S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	895					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGACGCCAGCGGCTGGGCCTT	0.647000													4	115					0	0	0.014758	0	0
STPG2	285555	broad.mit.edu	37	4	98893492	98893492	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:98893492G>A	ENST00000295268.3	-	7	961	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GAAAGTCCGAGGAACAGAAGA	0.358000													6	120					0	0	0.029380	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205084	71205084	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr14:71205084G>A	ENST00000554752.2	-	8	1721	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	MAP3K9_ENST00000554146.1_Silent_p.G311G|MAP3K9_ENST00000381250.4_Silent_p.G574G|MAP3K9_ENST00000555993.2_Silent_p.G574G|MAP3K9_ENST00000553414.1_Silent_p.G316G			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	574					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAGCTCCTGCCccaggttt	0.567000													11	77					0	0	0.069234	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908785	140908785	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:140908785T>C	ENST00000253811.6	-	21	2875	c.2735A>G	c.(2734-2736)aAg>aGg	p.K912R	DIAPH1_ENST00000520569.1_Missense_Mutation_p.K854R|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K899R|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K911R|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K887R|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K903R|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K908R|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K902R			O60610	DIAP1_HUMAN	diaphanous-related formin 1	911	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATTCATCCTTCAGTTCAGA	0.498000													9	73					0	0	0.047766	0	0
MAP9	79884	broad.mit.edu	37	4	156277012	156277012	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:156277012C>T	ENST00000311277.4	-	9	1409	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Silent_p.K358K|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	382					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AACTAGATTTCTTCAAAAACT	0.348000													4	38					0	0	0.021553	0	0
NUDT11	55190	broad.mit.edu	37	X	51238820	51238820	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:51238820C>T	ENST00000375992.3	-	1	628	c.477G>A	c.(475-477)tcG>tcA	p.S159S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	159						cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGCTATCTGGCGAGGATGGGG	0.562000										HNSCC(48;0.14)			4	31					0	0	0.021553	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917985	48917985	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:48917985C>T	ENST00000311378.4	+	2	1864	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R353W|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	446	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAGCGCTGTCGGGCCTGCAA	0.622000													8	55					0	0	0.038147	0	0
CHD1	1105	broad.mit.edu	37	5	98218909	98218909	+	Silent	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:98218909T>C	ENST00000284049.3	-	18	2750	c.2601A>G	c.(2599-2601)ggA>ggG	p.G867G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	867	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTAGACCTCCAGCTCTTG	0.373000													3	43					0	0	0.009096	0	0
WIZ	58525	broad.mit.edu	37	19	15559028	15559028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:15559028C>A	ENST00000389282.4	-	2	304	c.91G>T	c.(91-93)Gag>Tag	p.E31*	WIZ_ENST00000263381.6_Nonsense_Mutation_p.E31*			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	31						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCCCCACCCTCGATGTTCTCC	0.647000													3	69					0.115264	0.123596	0.115264	1	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340710	39340710	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:39340710G>A	ENST00000398472.1	-	1	884	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	133	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.R129C(1)|p.R133C(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAAGTTGCACGGCAGCAGGTG	0.577000													6	126					0	0	0.038147	0	0
SYNE3	161176	broad.mit.edu	37	14	95921870	95921870	+	Silent	SNP	G	G	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr14:95921870G>C	ENST00000334258.5	-	5	995	c.981C>G	c.(979-981)ctC>ctG	p.L327L	SYNE3_ENST00000554873.1_Silent_p.L84L|SYNE3_ENST00000557275.1_Silent_p.L327L|SYNE3_ENST00000553340.1_Silent_p.L327L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCCTGGACCGGAGCAGGCCCC	0.637000													10	93					0	0	0.069234	0	0
TCF7L1	83439	broad.mit.edu	37	2	85536379	85536379	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:85536379G>A	ENST00000282111.3	+	12	1836	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	521					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACTCTGCCGCCTTCCTGTC	0.687000													6	26					0	0	0.038147	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133558	91133558	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:91133558T>A	ENST00000373094.1	+	2	3164	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	PCDH11X_ENST00000373097.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N773K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N773K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	773	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTTCGTGAATGAGTCGGTGA	0.433000													15	124					0	0	0.119110	0	0
OLIG2	10215	broad.mit.edu	37	21	34399432	34399432	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr21:34399432T>G	ENST00000333337.3	+	1	1190	c.262T>G	c.(262-264)Tcg>Gcg	p.S88A	AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.S88A|AP000282.2_ENST00000454622.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	88	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						GTCTACGTCGTCGGCGGCTGC	0.632000			T	TRA@	T-ALL								6	18					0	0	0.038147	0	0
C6	729	broad.mit.edu	37	5	41199881	41199881	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:41199881C>T	ENST00000263413.3	-	4	698	c.434G>A	c.(433-435)cGc>cAc	p.R145H	C6_ENST00000337836.5_Missense_Mutation_p.R145H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGTCACAGCGAAATTTATT	0.413000													15	105					0	0	0.146539	0	0
PELP1	27043	broad.mit.edu	37	17	4575883	4575883	+	Silent	SNP	T	T	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:4575883T>G	ENST00000301396.4	-	16	3060	c.2835A>C	c.(2833-2835)ccA>ccC	p.P945P	PELP1_ENST00000269230.7_Silent_p.P711P|PELP1_ENST00000574876.1_Silent_p.P801P|PELP1_ENST00000572293.1_Silent_p.P851P|PELP1_ENST00000436683.2_Silent_p.P654P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	801	Glu-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGAGGGTGGTGGGGGTGGCA	0.622000													4	27					0	0	0.029380	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	224					0	0	0.009096	0	0
KRT78	196374	broad.mit.edu	37	12	53233611	53233611	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:53233611G>A	ENST00000359499.4	-	7	886	c.875C>T	c.(874-876)aCg>aTg	p.T292M	KRT78_ENST00000304620.4_Missense_Mutation_p.T402M			Q8N1N4	K2C78_HUMAN	keratin 78	402	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAAGCTTCGTGCTCGTCAG	0.612000													9	59					0	0	0.047766	0	0
USP34	9736	broad.mit.edu	37	2	61456687	61456687	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:61456687C>G	ENST00000398571.2	-	59	7271	c.7195G>C	c.(7195-7197)Gat>Cat	p.D2399H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2399					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTACCCATCTTCCATTCCT	0.348000													19	238					0	0	0.083992	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7531842	7531842	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:7531842C>T	ENST00000593531.1	+	17	2252	c.2252C>T	c.(2251-2253)cCa>cTa	p.P751L	ARHGEF18_ENST00000319670.9_Silent_p.P635P|ARHGEF18_ENST00000359920.6_Silent_p.P793P																							CCCGTCTGCCCACCGTCCTGG	0.637000													11	68					0	0	0.080935	0	0
GDPD1	284161	broad.mit.edu	37	17	57298028	57298028	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:57298028T>C	ENST00000284116.4	+	1	195	c.58T>C	c.(58-60)Tca>Cca	p.S20P	GDPD1_ENST00000581276.1_Missense_Mutation_p.S20P|GDPD1_ENST00000581140.1_Missense_Mutation_p.S20P	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	20					glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTTGGTGACCTCATTCTTGTT	0.542000											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	136					0	0	0.115264	0	0
MEP1A	4224	broad.mit.edu	37	6	46787388	46787388	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr6:46787388C>G	ENST00000230588.4	+	7	512	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	168	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGAGCAGTCAAGGACGGAC	0.478000													5	227					0	0	0.029380	0	0
CKS1B	1163	broad.mit.edu	37	1	154947327	154947327	+	Translation_Start_Site	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:154947327G>A	ENST00000368439.1	+	0	199				CKS1B_ENST00000368436.1_Intron|CKS1B_ENST00000308987.5_Intron			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B						cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTTTGGCCGCTGAGGGCAC	0.512000													3	29					0	0	0.115264	0	0
METTL14	57721	broad.mit.edu	37	4	119621745	119621745	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:119621745C>T	ENST00000388822.4	+	8	853	c.686C>T	c.(685-687)tCa>tTa	p.S229L	METTL14_ENST00000506780.1_Missense_Mutation_p.S191L			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	229						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCACCTCGATCATTTATTTTT	0.338000													12	81					0	0	0.132662	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								7	47					0	0	0.047766	0	0
TICAM2	353376	broad.mit.edu	37	5	114916440	114916440	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:114916440G>A	ENST00000408996.4	-	4	1407	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.P172S|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.P341S	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		GGCCGCATGGGTATAACAGAG	0.443000													6	84					0	0	0.038147	0	0
CSMD3	114788	broad.mit.edu	37	8	113241099	113241099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:113241099G>T	ENST00000297405.5	-	70	11094	c.10850C>A	c.(10849-10851)tCa>tAa	p.S3617*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3547*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3448*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3577*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3617						integral to membrane|plasma membrane		p.S3617*(1)|p.S3577*(1)		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						TGAAGAATTTGAACCTTCTGA	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	46					0.00909568	0.00999402	0.009096	1	0
RAB11FIP3	9727	broad.mit.edu	37	16	546835	546835	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:546835G>A	ENST00000262305.4	+	6	1665	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R471Q|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R130Q	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	426					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCGACAAAGCGGCTCTCCAGC	0.423000													13	92					0	0	0.119110	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815178	1815178	+	Splice_Site	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:1815178C>T	ENST00000250894.4	+	20	2599	c.2443_splice	c.e20+1	p.P814_splice	MAPK8IP3_ENST00000356010.5_Splice_Site_p.P808_splice	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	814					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGCATCCCCGGTGAGCAGC	0.617000													3	18					0	0	0.115264	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67213451	67213451	+	Silent	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:67213451C>G	ENST00000290881.7	-	5	1655	c.729G>C	c.(727-729)ctG>ctC	p.L243L	KIAA0895L_ENST00000561621.1_Silent_p.L243L|KIAA0895L_ENST00000563902.1_Silent_p.L243L|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561679.1_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	243										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGTCCTCACTCAGCTGCACCA	0.647000													4	40					0	0	0.009096	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679304	37679304	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:37679304G>A	ENST00000379800.3	-	1	499	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	30	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGATAAACGTCTCCAAAGG	0.537000													7	122					0	0	0.047766	0	0
CTDSP2	10106	broad.mit.edu	37	12	58221344	58221344	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:58221344C>A	ENST00000398073.2	-	3	546	c.243G>T	c.(241-243)caG>caT	p.Q81H	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	81					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CCTGGTAGAACTGGTACTGGA	0.562000													3	26					0.115264	0.123596	0.115264	1	0
CACNG7	59284	broad.mit.edu	37	19	54418666	54418666	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:54418666G>A	ENST00000391767.1	+	4	543	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.V111M|CACNG7_ENST00000222212.2_Missense_Mutation_p.V111M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	111					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTCTTCCTCGTGTTCACGGC	0.607000													9	49					0	0	0.058154	0	0
APOB	338	broad.mit.edu	37	2	21233487	21233487	+	Nonsense_Mutation	SNP	G	G	A	rs121918386		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:21233487G>A	ENST00000233242.1	-	26	6380	c.6253C>T	c.(6253-6255)Cga>Tga	p.R2085*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2085	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGTTTGTCGATTCCTCTCA	0.343000													6	57					0	0	0.021553	0	0
JAK1	3716	broad.mit.edu	37	1	65306941	65306941	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65306941C>T	ENST00000342505.4	-	19	2884	c.2636G>A	c.(2635-2637)cGt>cAt	p.R879H		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	879	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCCCAAGTCACGGATCCTCTT	0.493000			Mis		ALL								9	70					0	0	0.047766	0	0
MTMR11	10903	broad.mit.edu	37	1	149905361	149905361	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:149905361T>C	ENST00000439741.2	-	10	1173	c.923A>G	c.(922-924)gAg>gGg	p.E308G	MTMR11_ENST00000406732.3_Missense_Mutation_p.E280G|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.E236G|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	308	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGGCAGCTCATCCATAGT	0.567000													3	79					0	0	0.115264	0	0
FARP1	10160	broad.mit.edu	37	13	99042297	99042297	+	Silent	SNP	C	C	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:99042297C>A	ENST00000376586.2	+	10	1278	c.942C>A	c.(940-942)gcC>gcA	p.A314A	FARP1_ENST00000595437.1_Silent_p.A314A|FARP1_ENST00000319562.6_Silent_p.A314A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	314	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACATCATGCCTTCTTTAGAC	0.488000													7	155					2.0095e-06	2.29289e-06	0.029380	1	0
PGAP1	80055	broad.mit.edu	37	2	197763049	197763049	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:197763049G>A	ENST00000354764.3	-	6	966	c.852C>T	c.(850-852)tcC>tcT	p.S284S	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.S242S|PGAP1_ENST00000409475.1_Silent_p.S284S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	284					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACCACACAATGGAGAGGTGGT	0.343000													11	67					0	0	0.080935	0	0
JAK1	3716	broad.mit.edu	37	1	65303626	65303626	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65303626G>A	ENST00000342505.4	-	22	3377	c.3129C>T	c.(3127-3129)agC>agT	p.S1043S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1043	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AAAACACAGGGCTGTCCCGGT	0.398000			Mis		ALL								3	52					0	0	0.115264	0	0
LYPD3	27076	broad.mit.edu	37	19	43965777	43965777	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:43965777G>A	ENST00000244333.3	-	5	855	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	256						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGTAGAAGTGGTGACAGATGT	0.612000													20	118					0	0	0.049695	0	0
PNMA3	29944	broad.mit.edu	37	X	152226306	152226306	+	Silent	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:152226306A>G	ENST00000447306.1	+	2	1230	c.894A>G	c.(892-894)ttA>ttG	p.L298L	PNMA3_ENST00000370265.4_Silent_p.L298L|PNMA3_ENST00000370264.4_Silent_p.L298L	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	298					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					aacgagtcttaagtggggcca	0.502000													6	63					0	0	0.029380	0	0
RASA3	22821	broad.mit.edu	37	13	114751137	114751137	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:114751137T>C	ENST00000334062.7	-	23	2499	c.2378A>G	c.(2377-2379)gAg>gGg	p.E793G	RASA3_ENST00000389544.4_Missense_Mutation_p.E761G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	793					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTGGGCGTGCTCCTGCTCCAA	0.582000													15	183					0	0	0.033300	0	0
MSH4	4438	broad.mit.edu	37	1	76365359	76365359	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:76365359G>A	ENST00000263187.3	+	19	2691	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	863					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.E863K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGATGCCAAGGAAATCACAAC	0.294000								Mismatch excision repair (MMR)					8	66					0	0	0.047766	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	14					0	0	0.115264	0	0
JAK1	3716	broad.mit.edu	37	1	65303627	65303627	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65303627C>A	ENST00000342505.4	-	22	3376	c.3128G>T	c.(3127-3129)aGc>aTc	p.S1043I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1043	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AAACACAGGGCTGTCCCGGTC	0.398000			Mis		ALL								3	52					0.004672	0.0051976	0.115264	1	0
NLRP8	126205	broad.mit.edu	37	19	56466997	56466997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:56466997C>T	ENST00000291971.3	+	3	1644	c.1573C>T	c.(1573-1575)Caa>Taa	p.Q525*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q525*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	525	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGTTTCCCACAAAGACTCAA	0.433000													8	171					0	0	0.038147	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	14					0	0	0.115264	0	0
N4BP3	23138	broad.mit.edu	37	5	177548577	177548577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:177548577C>T	ENST00000274605.5	+	5	1569	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	404						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAAGACACAACTTCGGGG	0.647000													13	85					0	0	0.119110	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892011	72892011	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr7:72892011T>C	ENST00000339594.4	-	7	2118	c.1780A>G	c.(1780-1782)Aga>Gga	p.R594G	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R594G	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	594					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCACCAATCTGAATGCTGGA	0.458000													4	187					0	0	0.009096	0	0
IFT43	112752	broad.mit.edu	37	14	76525675	76525675	+	Missense_Mutation	SNP	G	G	A	rs2302858	by1000genomes	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr14:76525675G>A	ENST00000314067.6	+	5	288	c.254G>A	c.(253-255)cGc>cAc	p.R85H	IFT43_ENST00000238628.6_Intron	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	85			R -> H (in dbSNP:rs2302858).		cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAGTTTCCGCCTCAGACCA	0.448000													7	85					0	0	0.038147	0	0
CD163	9332	broad.mit.edu	37	12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:7636017G>A	ENST00000359156.4	-	12	3236	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_ENST00000396620.3_Missense_Mutation_p.R1045C|CD163_ENST00000432237.2_Missense_Mutation_p.R1012C|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.R1000C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1012	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGCCCCAGCGTCTGGCAGGA	0.512000													7	50					0	0	0.029380	0	0
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.4	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)cgg>c	p.LALR31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													3	6	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													2	4	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													3	5	---	---	---	---					
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aafs	p.KK187fs		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309													2	4	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1																						GAAGCAAATGTAAAAAAAAAAA	0.386													6	5	---	---	---	---					
SORD2P	653381	broad.mit.edu	37	15	45123910	45123911	+	RNA	DEL	AA	AA	-			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:45123910_45123911delAA	ENST00000561384.2	-	0	726																											ATCTGAAGGTAAAAAAAAAAAA	0.421													3	4	---	---	---	---					
ADCY7	113	broad.mit.edu	37	16	50340985	50340986	+	Frame_Shift_Ins	INS	-	-	C	rs74793314		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:50340985_50340986insC	ENST00000394697.2	+	15	2117_2118	c.1777_1778insC	c.(1777-1779)ccgfs	p.P593fs	ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	593					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CATCCCCCGGGCCCGCCACGAC	0.658													7	43	---	---	---	---					
FAM192A	80011	broad.mit.edu	37	16	57206187	57206189	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:57206187_57206189delTTC	ENST00000309137.8	-	4	580_582	c.322_324delGAA	c.(322-324)del	p.E108del	FAM192A_ENST00000566077.1_In_Frame_Del_p.E31del|FAM192A_ENST00000564108.1_In_Frame_Del_p.E108del|FAM192A_ENST00000567439.1_In_Frame_Del_p.E108del|FAM192A_ENST00000389447.5_In_Frame_Del_p.E108del|FAM192A_ENST00000569266.1_In_Frame_Del_p.E108del	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	108						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GTTCTTTCAGTTCTTCTTCTCTT	0.404													9	108	---	---	---	---					
ZNF41	7592	broad.mit.edu	37	X	47308645	47308646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:47308645_47308646insT	ENST00000377065.4	-	5	1162_1163	c.523_524insA	c.(523-525)aatfs	p.N175fs	ZNF41_ENST00000397050.2_Frame_Shift_Ins_p.N185fs|ZNF41_ENST00000313116.7_Frame_Shift_Ins_p.N175fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	217						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACATGAATTATTTTTTCAATG	0.332													15	131	---	---	---	---					
